{"id":"DOID:0040001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"shrimp allergy","equivalent_identifiers":["DOID:0040001"]}
{"id":"DOID:0040009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lidocaine allergy","equivalent_identifiers":["DOID:0040009","UMLS:C0570646","SNOMEDCT:293722000"]}
{"id":"DOID:0040014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corticosteroid allergy","equivalent_identifiers":["DOID:0040014"]}
{"id":"DOID:0040015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sulfonamide allergy","equivalent_identifiers":["DOID:0040015","UMLS:C0038757","MEDDRA:10060787","SNOMEDCT:91939003"]}
{"id":"DOID:0040021","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cephalosporin allergy","equivalent_identifiers":["DOID:0040021","UMLS:C0571444","SNOMEDCT:294532003"]}
{"id":"DOID:0040023","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cefaclor allergy","equivalent_identifiers":["DOID:0040023","UMLS:C0571453","SNOMEDCT:294541008"]}
{"id":"DOID:0040025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cefuroxime allergy","equivalent_identifiers":["DOID:0040025","UMLS:C0571454","SNOMEDCT:294542001"]}
{"id":"DOID:0040032","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carbapenem allergy","equivalent_identifiers":["DOID:0040032","UMLS:C0571443","SNOMEDCT:294531005"]}
{"id":"DOID:0040037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aztreonam allergy","equivalent_identifiers":["DOID:0040037","UMLS:C0571476","SNOMEDCT:294565006"]}
{"id":"DOID:0040038","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"meropenem allergy","equivalent_identifiers":["DOID:0040038"]}
{"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":"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":"DOID:0050537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior polar cataract","equivalent_identifiers":["DOID:0050537"]}
{"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":"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":"DOID:0060164","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pain disorder","equivalent_identifiers":["DOID:0060164"]}
{"id":"DOID:0060314","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"persistent generalized lymphadenopathy","equivalent_identifiers":["DOID:0060314"]}
{"id":"DOID:0060495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"shellfish allergy","equivalent_identifiers":["DOID:0060495"]}
{"id":"DOID:0060497","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pollen allergy","equivalent_identifiers":["DOID:0060497"]}
{"id":"DOID:0060498","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Timothy grass allergy","equivalent_identifiers":["DOID:0060498"]}
{"id":"DOID:0060508","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orange allergy","equivalent_identifiers":["DOID:0060508"]}
{"id":"DOID:0060512","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tomato allergy","equivalent_identifiers":["DOID:0060512"]}
{"id":"DOID:0060513","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fish allergy","equivalent_identifiers":["DOID:0060513"]}
{"id":"DOID:0060520","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"penicillin allergy","equivalent_identifiers":["DOID:0060520"]}
{"id":"DOID:0060523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mollusc allergy","equivalent_identifiers":["DOID:0060523"]}
{"id":"DOID:0060530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"snail allergy","equivalent_identifiers":["DOID:0060530"]}
{"id":"DOID:0070017","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive dyskeratosis congenita 2","equivalent_identifiers":["DOID:0070017"]}
{"id":"DOID:0070023","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant dyskeratosis congenita 6","equivalent_identifiers":["DOID:0070023"]}
{"id":"DOID:0070025","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked dyskeratosis congenita","equivalent_identifiers":["DOID:0070025"]}
{"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":"DOID:0070272","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary nonpolyposis colorectal cancer type 5","equivalent_identifiers":["DOID:0070272"]}
{"id":"DOID:0070274","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary nonpolyposis colorectal cancer type 2","equivalent_identifiers":["DOID:0070274"]}
{"id":"DOID:0070275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary nonpolyposis colorectal cancer type 4","equivalent_identifiers":["DOID:0070275"]}
{"id":"DOID:0070276","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary nonpolyposis colorectal cancer type 7","equivalent_identifiers":["DOID:0070276"]}
{"id":"DOID:0070335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"celery allergy","equivalent_identifiers":["DOID:0070335"]}
{"id":"DOID:0070480","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schwannomatosis 1","equivalent_identifiers":["DOID:0070480","UMLS:C5670707","NCIT:C186703"],"information_content":92.8}
{"id":"DOID:0070481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schwannomatosis 2","equivalent_identifiers":["DOID:0070481","UMLS:C5670708","NCIT:C186704"],"information_content":92.8}
{"id":"DOID:0070482","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal neurofibromatosis","equivalent_identifiers":["DOID:0070482"]}
{"id":"DOID:0070483","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Watson syndrome","equivalent_identifiers":["DOID:0070483"]}
{"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":"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":"DOID:0080142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mosaic variegated aneuploidy syndrome 2","equivalent_identifiers":["DOID:0080142"]}
{"id":"DOID:0080409","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial adenomatous polyposis 1","equivalent_identifiers":["DOID:0080409"]}
{"id":"DOID:0080410","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial adenomatous polyposis 2","equivalent_identifiers":["DOID:0080410","ICD10:D12.6"]}
{"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":"DOID:0080577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polygenic disease","equivalent_identifiers":["DOID:0080577"]}
{"id":"DOID:0080623","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Heimler syndrome 1","equivalent_identifiers":["DOID:0080623"]}
{"id":"DOID:0080624","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Heimler syndrome 2","equivalent_identifiers":["DOID:0080624"]}
{"id":"DOID:0080652","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"calcium oxalate nephrolithiasis","equivalent_identifiers":["DOID:0080652"]}
{"id":"DOID:0080685","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic dissection","equivalent_identifiers":["DOID:0080685"]}
{"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":"DOID:0080712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gene duplication disease","equivalent_identifiers":["DOID:0080712"]}
{"id":"DOID:0080816","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult-onset severe asthma","equivalent_identifiers":["DOID:0080816"]}
{"id":"DOID:0080832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mild cognitive impairment","equivalent_identifiers":["DOID:0080832"]}
{"id":"DOID:0081144","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"common variable immunodeficiency 1","equivalent_identifiers":["DOID:0081144"]}
{"id":"DOID:0081145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"common variable immunodeficiency 2","equivalent_identifiers":["DOID:0081145"]}
{"id":"DOID:0081146","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"common variable immunodeficiency 3","equivalent_identifiers":["DOID:0081146"]}
{"id":"DOID:0081151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"common variable immunodeficiency 8","equivalent_identifiers":["DOID:0081151"]}
{"id":"DOID:0110915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood hypophosphatasia","equivalent_identifiers":["DOID:0110915"]}
{"id":"DOID:0111145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ureteropelvic junction obstruction","equivalent_identifiers":["DOID:0111145"]}
{"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":"DOID:0111264","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ruijs-Aalfs syndrome","equivalent_identifiers":["DOID:0111264"]}
{"id":"DOID:0111368","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholesterol-ester transfer protein deficiency","equivalent_identifiers":["DOID:0111368"]}
{"id":"DOID:0111503","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Li-Fraumeni syndrome 1","equivalent_identifiers":["DOID:0111503"]}
{"id":"DOID:0111504","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Li-Fraumeni syndrome 2","equivalent_identifiers":["DOID:0111504","UMLS:C1836482","MESH:C563755","NCIT:C176588"],"information_content":92.8}
{"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":"DOID:0111543","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome","equivalent_identifiers":["DOID:0111543"]}
{"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":"DOID:0111684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary mixed polyposis syndrome","equivalent_identifiers":["DOID:0111684"]}
{"id":"DOID:0111867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nonphotosensitive trichothiodystrophy","equivalent_identifiers":["DOID:0111867"]}
{"id":"DOID:0112133","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe congenital neutropenia 3","equivalent_identifiers":["DOID:0112133"]}
{"id":"DOID:070355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multisystem proteinopathy","equivalent_identifiers":["DOID:070355"]}
{"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":"DOID:10272","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"left bundle branch hemiblock","equivalent_identifiers":["DOID:10272","UMLS:C0155702","MEDDRA:10024101","SNOMEDCT:4973001","ICD10:I44.60","ICD9:426.2"]}
{"id":"DOID:1233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transvestism","equivalent_identifiers":["DOID:1233","UMLS:C0040774","MESH:D014190","MEDDRA:10044458","NCIT:C94359","SNOMEDCT:472948001","SNOMEDCT:472981000","SNOMEDCT:472989003","ICD10:F64.1","ICD9:302.3"],"information_content":100.0}
{"id":"DOID:1234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gender incongruence","equivalent_identifiers":["DOID:1234","EFO:0008587","EFO:0020103","UMLS:C0017250","UMLS:C0040630","UMLS:C0236802","MEDDRA:10018054","MEDDRA:10044341","MEDDRA:10061976","MEDDRA:10086387","NCIT:C94362","SNOMEDCT:191787001","SNOMEDCT:5095008","SNOMEDCT:87991007","ICD10:F64","ICD10:F64.2","ICD9:302.50","ICD9:302.6"],"information_content":100.0}
{"id":"DOID:13209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"right bundle branch block","equivalent_identifiers":["DOID:13209","UMLS:C0155704","MEDDRA:10039149","SNOMEDCT:46319007","ICD9:426.51"]}
{"id":"DOID:13352","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ego-dystonic sexual orientation","equivalent_identifiers":["DOID:13352","UMLS:C0233880","SNOMEDCT:52813007","ICD9:302.0"]}
{"id":"DOID:14336","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"estrogen excess","equivalent_identifiers":["DOID:14336","EFO:0009004","UMLS:C0154209","MEDDRA:10020624","MEDDRA:10020689","NCIT:C113344","SNOMEDCT:37295009","ICD10:E28.0","ICD9:256.0"],"information_content":100.0}
{"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":"DOID:2301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrophy of prostate","equivalent_identifiers":["DOID:2301","UMLS:C0156296","MEDDRA:10003709","MEDDRA:10036941","SNOMEDCT:29524003","ICD9:602.2"]}
{"id":"DOID:2497","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"enamel erosion","equivalent_identifiers":["DOID:2497","UMLS:C0399400","SNOMEDCT:234977009","ICD9:521.31"]}
{"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":"DOID:2729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyskeratosis congenita","equivalent_identifiers":["DOID:2729","UMLS:C0265965","MESH:D019871","MEDDRA:10062759","NCIT:C111802","SNOMEDCT:74911008"],"information_content":83.1}
{"id":"DOID:2934","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aleutian mink disease","equivalent_identifiers":["DOID:2934","UMLS:C0002016","MESH:D000453","SNOMEDCT:62251004"]}
{"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":"DOID:3204","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schwannomatosis","equivalent_identifiers":["DOID:3204","UMLS:C1335929","MESH:C536641","NCIT:C6557","ICD10:Q85.03","ICD9:237.73"],"information_content":87.2}
{"id":"DOID:3660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"wheat allergy","equivalent_identifiers":["DOID:3660","EFO:1001243","UMLS:C0949570","MESH:D021182","MEDDRA:10088411","SNOMEDCT:420174000"]}
{"id":"DOID:3883","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lynch syndrome","equivalent_identifiers":["DOID:3883","UMLS:C0009405","UMLS:C4552100","MESH:D003123","MEDDRA:10051981","NCIT:C8494","SNOMEDCT:716318002"],"information_content":78.5}
{"id":"DOID:4378","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peanut allergy","equivalent_identifiers":["DOID:4378","EFO:0007425","UMLS:C0559470","MESH:D021183","MEDDRA:10034202","SNOMEDCT:91935009"]}
{"id":"DOID:4586","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial meningioma","equivalent_identifiers":["DOID:4586","UMLS:C1333989","MESH:C537443","NCIT:C5301"],"information_content":100.0}
{"id":"DOID:4661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple chemical sensitivity","equivalent_identifiers":["DOID:4661","EFO:0007382","UMLS:C0242992","MESH:D018777","MEDDRA:10057865","MEDDRA:10086717","SNOMEDCT:702772003"]}
{"id":"DOID:4667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kyphosis","equivalent_identifiers":["DOID:4667"]}
{"id":"DOID:4668","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital kyphosis","equivalent_identifiers":["DOID:4668"]}
{"id":"DOID:5154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"borna disease","equivalent_identifiers":["DOID:5154","UMLS:C0006023","MESH:D001890"]}
{"id":"DOID:566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"labyrinthine dysfunction","equivalent_identifiers":["DOID:566","UMLS:C0155514","MEDDRA:10023561","MEDDRA:10023562","SNOMEDCT:5239005","ICD10:H83.2","ICD9:386.5"]}
{"id":"DOID:5683","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary breast ovarian cancer syndrome","equivalent_identifiers":["DOID:5683","UMLS:C0677776","MESH:D061325","MEDDRA:10090911","NCIT:C8493","SNOMEDCT:718220008"],"information_content":86.3}
{"id":"DOID:6225","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cronkhite-Canada syndrome","equivalent_identifiers":["DOID:6225","UMLS:C1333764","NCIT:C7035"],"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":"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":"DOID:9373","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postural kyphosis","equivalent_identifiers":["DOID:9373"]}
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{"id":"MONDO:0000023","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infantile liver failure","equivalent_identifiers":["MONDO:0000023","DOID:0080716","OMIM.PS:615438","orphanet:464724","UMLS:C5681094","SNOMEDCT:1208726006","medgen:1813021"],"information_content":89.4}
{"id":"MONDO:0000032","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"febrile seizures, familial","equivalent_identifiers":["MONDO:0000032","DOID:0111297","OMIM.PS:121210"],"information_content":82.6}
{"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":"MONDO:0000062","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isolated microphthalmia","equivalent_identifiers":["MONDO:0000062","DOID:0080637","OMIM.PS:251600"],"information_content":79.3}
{"id":"MONDO:0000079","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrolithiasis/osteoporosis, hypophosphatemic","equivalent_identifiers":["MONDO:0000079","DOID:0080655","OMIM.PS:612286","KEGG.DISEASE:H00888"],"information_content":92.8}
{"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: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":"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: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":"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":"MONDO:0000160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epilepsy, familial adult myoclonic","equivalent_identifiers":["MONDO:0000160","DOID:0111689","OMIM.PS:601068"],"information_content":85.5}
{"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":"MONDO:0000193","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cortisone reductase deficiency","equivalent_identifiers":["MONDO:0000193","DOID:0090139","OMIM.PS:604931","orphanet:168588","UMLS:C1291245","MESH:C536447","SNOMEDCT:124138004","medgen:266223"],"information_content":92.8}
{"id":"MONDO:0000214","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypermanganesemia with dystonia","equivalent_identifiers":["MONDO:0000214","DOID:0080535","OMIM.PS:613280","UMLS:C4708509","SNOMEDCT:768553002","medgen:1632594"],"information_content":92.8}
{"id":"MONDO:0000229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Indian tick typhus","equivalent_identifiers":["MONDO:0000229","DOID:0050042","UMLS:C0343768","medgen:1843392"],"information_content":100.0}
{"id":"MONDO:0000231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Far eastern spotted fever","equivalent_identifiers":["MONDO:0000231","DOID:0050046","UMLS:C3532354","SNOMEDCT:472822008","medgen:759467"],"information_content":100.0}
{"id":"MONDO:0000232","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Flinders island spotted fever","equivalent_identifiers":["MONDO:0000232","DOID:0050047","UMLS:C4505102","medgen:1375989"],"information_content":100.0}
{"id":"MONDO:0000233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Japanese spotted fever","equivalent_identifiers":["MONDO:0000233","DOID:0050050","UMLS:C2108396","MEDDRA:10070494","medgen:1371298"],"information_content":100.0}
{"id":"MONDO:0000239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adiaspiromycosis","equivalent_identifiers":["MONDO:0000239","DOID:0050072","UMLS:C0259737","MESH:C000656784","SNOMEDCT:23892008","medgen:537148"],"information_content":100.0}
{"id":"MONDO:0000240","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"invasive aspergillosis","equivalent_identifiers":["MONDO:0000240","DOID:0050073","UMLS:C0238013","SNOMEDCT:721798004","medgen:922866","icd11.foundation:1314810340"],"information_content":100.0}
{"id":"MONDO:0000241","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Keshan disease","equivalent_identifiers":["MONDO:0000241","DOID:0050083","UMLS:C0268095","MESH:C536166","SNOMEDCT:46939000","medgen:78639"],"information_content":100.0}
{"id":"MONDO:0000242","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tinea barbae","equivalent_identifiers":["MONDO:0000242","DOID:0050096","UMLS:C2349994","MESH:C000656825","MEDDRA:10057682","MEDDRA:10088270","SNOMEDCT:399329002","medgen:748519"],"information_content":100.0}
{"id":"MONDO:0000255","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subcutaneous mycosis","equivalent_identifiers":["MONDO:0000255","DOID:0050135","UMLS:C5230306","SNOMEDCT:789052003","medgen:1684692"],"information_content":92.8}
{"id":"MONDO:0000256","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"systemic mycosis","equivalent_identifiers":["MONDO:0000256","DOID:0050136","UMLS:C0553576","MEDDRA:10042941","MEDDRA:10052366","SNOMEDCT:399314004","medgen:639956"],"information_content":80.6}
{"id":"MONDO:0000257","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute diarrhea","equivalent_identifiers":["MONDO:0000257","DOID:0050140","UMLS:C0740441","MEDDRA:10000706","MEDDRA:10055955","SNOMEDCT:409966000","medgen:677005"],"information_content":64.3}
{"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:0000262","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otomycosis","equivalent_identifiers":["MONDO:0000262","DOID:0050147","UMLS:C0029895","MESH:D059249","MEDDRA:10052557","MEDDRA:10088657","SNOMEDCT:53316003","medgen:452110","icd11.foundation:107388709"],"information_content":95.4}
{"id":"MONDO:0000263","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngotracheitis","equivalent_identifiers":["MONDO:0000263","DOID:0050148","UMLS:C0023076","UMLS:C0155811","UMLS:C0155837","MEDDRA:10000827","MEDDRA:10008942","MEDDRA:10023882","MEDDRA:10023883","MEDDRA:10023894","MEDDRA:10023895","MEDDRA:10023896","SNOMEDCT:276443001","SNOMEDCT:55130001","SNOMEDCT:64375000","SNOMEDCT:83271005","medgen:507907","ICD10:J04","ICD10:J37.1","ICD9:464","ICD9:476.1"],"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:0000273","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kunjin virus infectous disease","equivalent_identifiers":["MONDO:0000273","DOID:0050174"],"information_content":100.0}
{"id":"MONDO:0000276","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Powassan encephalitis","equivalent_identifiers":["MONDO:0000276","DOID:0050179","UMLS:C0032858","UMLS:C1563215","SNOMEDCT:416543004","SNOMEDCT:416707008","medgen:18601","icd11.foundation:1674038791"],"information_content":100.0}
{"id":"MONDO:0000283","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type","equivalent_identifiers":["MONDO:0000283","DOID:0050200"],"information_content":100.0}
{"id":"MONDO:0000290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary amebic meningoencephalitis","equivalent_identifiers":["MONDO:0000290","DOID:0050242","UMLS:C0300934","UMLS:C4303098","MESH:C535275","SNOMEDCT:721816008","medgen:81253"],"information_content":100.0}
{"id":"MONDO:0000291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulomatous amebic encephalitis","equivalent_identifiers":["MONDO:0000291","DOID:0050246","UMLS:C0338428","SNOMEDCT:230187000","medgen:572559"],"information_content":100.0}
{"id":"MONDO:0000293","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coenurosis","equivalent_identifiers":["MONDO:0000293","DOID:0050251","UMLS:C0009225","SNOMEDCT:24360007","medgen:3142","icd11.foundation:1545561495"],"information_content":100.0}
{"id":"MONDO:0000295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acanthocephaliasis","equivalent_identifiers":["MONDO:0000295","DOID:0050254","UMLS:C0277331","SNOMEDCT:105713003","medgen:548052","icd11.foundation:1026340475"],"information_content":100.0}
{"id":"MONDO:0000299","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thelaziasis","equivalent_identifiers":["MONDO:0000299","DOID:0050261","UMLS:C0344058","SNOMEDCT:46477004","medgen:576041","icd11.foundation:1803398353"],"information_content":100.0}
{"id":"MONDO:0000302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"basidiobolomycosis","equivalent_identifiers":["MONDO:0000302","DOID:0050278","UMLS:C0343965","MEDDRA:10090300","SNOMEDCT:4921002","medgen:575966","icd11.foundation:2087283296"],"information_content":92.8}
{"id":"MONDO:0000303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conidiobolomycosis","equivalent_identifiers":["MONDO:0000303","DOID:0050279","UMLS:C0276712","SNOMEDCT:240783007","medgen:547510","icd11.foundation:1326582778"],"information_content":100.0}
{"id":"MONDO:0000304","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"penicilliosis","equivalent_identifiers":["MONDO:0000304","DOID:0050288","UMLS:C1274008","UMLS:C4076231","SNOMEDCT:372936000","SNOMEDCT:713315007","medgen:697372"],"information_content":100.0}
{"id":"MONDO:0000306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichosporonosis","equivalent_identifiers":["MONDO:0000306","DOID:0050290","UMLS:C0343939","MESH:D060586","MEDDRA:10053461","SNOMEDCT:240761008","medgen:452453"],"information_content":95.4}
{"id":"MONDO:0000309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aniseikonia","equivalent_identifiers":["MONDO:0000309","DOID:0050304","EFO:1001266","UMLS:C0003078","MESH:D000839","MEDDRA:10002534","SNOMEDCT:16059006","medgen:1943","icd11.foundation:1672014953"],"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":"MONDO:0000321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"typhoidal tularemia","equivalent_identifiers":["MONDO:0000321","DOID:0050383","UMLS:C0473876","SNOMEDCT:398554008","medgen:633510"],"information_content":100.0}
{"id":"MONDO:0000327","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Buruli Ulcer","equivalent_identifiers":["MONDO:0000327","DOID:0050456","UMLS:C0085568","MESH:D054312","MEDDRA:10066289","MEDDRA:10066290","NCIT:C84604","SNOMEDCT:15845006","medgen:43206","ICD10:A31.1"],"information_content":92.8}
{"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:0000330","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endemic typhus","equivalent_identifiers":["MONDO:0000330","DOID:0050481","orphanet:83315","UMLS:C0041472","MESH:D014437","MEDDRA:10028281","MEDDRA:10028282","MEDDRA:10039133","NCIT:C84688","SNOMEDCT:25668000","medgen:11977","icd11.foundation:4659958"],"information_content":100.0}
{"id":"MONDO:0000332","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sennetsu fever","equivalent_identifiers":["MONDO:0000332","DOID:0050485","UMLS:C0520779","MESH:C537582","SNOMEDCT:21013006","medgen:105459"],"information_content":100.0}
{"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:0000337","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exanthema subitum","equivalent_identifiers":["MONDO:0000337","DOID:0050495","EFO:1001320","UMLS:C0015231","UMLS:C0595993","MESH:D005077","MEDDRA:10015586","MEDDRA:10039222","MEDDRA:10039223","MEDDRA:10050048","NCIT:C128420","SNOMEDCT:54385001","medgen:41909","ICD10:B08.2","ICD9:058.1"],"information_content":100.0}
{"id":"MONDO:0000338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"variola major","equivalent_identifiers":["MONDO:0000338","DOID:0050508","UMLS:C1812609","MEDDRA:10047031","SNOMEDCT:47452006","medgen:740750","ICD9:050.0"],"information_content":100.0}
{"id":"MONDO:0000340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bulbospinal polio","equivalent_identifiers":["MONDO:0000340","DOID:0050514"],"information_content":100.0}
{"id":"MONDO:0000341","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paralytic poliomyelitis","equivalent_identifiers":["MONDO:0000341","DOID:0050515","UMLS:C1405301","medgen:1684656"],"information_content":90.9}
{"id":"MONDO:0000342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"O'nyong'nyong fever","equivalent_identifiers":["MONDO:0000342","DOID:0050516","UMLS:C0276286","MEDDRA:10080464","SNOMEDCT:85579005","medgen:547234","ICD10:A92.1"],"information_content":100.0}
{"id":"MONDO:0000344","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ross river fever","equivalent_identifiers":["MONDO:0000344","DOID:0050518","UMLS:C0919833","MESH:D000096745","MEDDRA:10050931","MEDDRA:10066922","SNOMEDCT:602001","SNOMEDCT:789400009","medgen:1673033"],"information_content":100.0}
{"id":"MONDO:0000345","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Oropouche fever","equivalent_identifiers":["MONDO:0000345","DOID:0050521","UMLS:C0276386","MEDDRA:10080465","SNOMEDCT:72880002","medgen:547314","ICD10:A93.0"],"information_content":100.0}
{"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":"MONDO:0000358","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofacial cleft","equivalent_identifiers":["MONDO:0000358","DOID:0050567","OMIM.PS:119530","UMLS:C3266076","SNOMEDCT:449790007","medgen:472000"],"information_content":76.5}
{"id":"MONDO:0000359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylocostal dysostosis","equivalent_identifiers":["MONDO:0000359","DOID:0050568","OMIM.PS:277300","UMLS:C0265343","MESH:C537565","MEDDRA:10088002","MEDDRA:10088003","NCIT:C125598","medgen:82707"],"information_content":85.5}
{"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":"MONDO:0000367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"taeniasis","equivalent_identifiers":["MONDO:0000367","DOID:0050596","EFO:1001433","UMLS:C0039254","UMLS:C0152073","MESH:D013622","MEDDRA:10004201","MEDDRA:10043092","MEDDRA:10043095","MEDDRA:10043096","NCIT:C85180","SNOMEDCT:69163003","SNOMEDCT:76172008","medgen:11701","icd11.foundation:733748279","ICD10:B68.1","ICD9:123.2"],"information_content":92.8}
{"id":"MONDO:0000376","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"respiratory system cancer","equivalent_identifiers":["MONDO:0000376","DOID:0050615","UMLS:C3164456","MEDDRA:10026676","MEDDRA:10061270","NCIT:C4571","SNOMEDCT:449096009","medgen:756863"],"information_content":58.7}
{"id":"MONDO:0000382","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"respiratory system benign neoplasm","equivalent_identifiers":["MONDO:0000382","DOID:0050621","UMLS:C0497556","NCIT:C8531","SNOMEDCT:255166003","medgen:635669"],"information_content":74.7}
{"id":"MONDO:0000383","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign reproductive system neoplasm","equivalent_identifiers":["MONDO:0000383","DOID:0050622","UMLS:C1332536","NCIT:C7617","medgen:234034"],"information_content":64.1}
{"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:0000386","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"digestive system neuroendocrine tumor, grade 1/2","equivalent_identifiers":["MONDO:0000386","DOID:0050626","UMLS:C2930967","MEDDRA:10090770","MEDDRA:10090773","NCIT:C95404","medgen:443945"],"information_content":62.9}
{"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":"MONDO:0000389","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atelosteogenesis","equivalent_identifiers":["MONDO:0000389","DOID:0050648","OMIM.PS:108720","UMLS:C5574658","SNOMEDCT:43814000","medgen:1806597"],"information_content":90.9}
{"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:0000393","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"partial fetal alcohol syndrome","equivalent_identifiers":["MONDO:0000393","DOID:0050666","UMLS:C3661483","medgen:775682"],"information_content":100.0}
{"id":"MONDO:0000395","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alcohol-related birth defect","equivalent_identifiers":["MONDO:0000395","DOID:0050668","UMLS:C3146244","NCIT:C92727","medgen:459973"],"information_content":100.0}
{"id":"MONDO:0000396","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic cerebral palsy","equivalent_identifiers":["MONDO:0000396","DOID:0050669","UMLS:C0338596","MEDDRA:10086400","NCIT:C116903","SNOMEDCT:230773005","medgen:137905","icd11.foundation:1426032265"],"information_content":84.2}
{"id":"MONDO:0000397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxic cerebral palsy","equivalent_identifiers":["MONDO:0000397","DOID:0050670","UMLS:C0394005","MESH:C562856","MEDDRA:10086399","NCIT:C97168","SNOMEDCT:278512001","medgen:95998","icd11.foundation:1134558601"],"information_content":95.4}
{"id":"MONDO:0000400","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mixed cerebral palsy","equivalent_identifiers":["MONDO:0000400","DOID:0050673","UMLS:C0751024","MEDDRA:10086402","NCIT:C97177","SNOMEDCT:702318008","medgen:148218"],"information_content":95.4}
{"id":"MONDO:0000402","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"small cell carcinoma","equivalent_identifiers":["MONDO:0000402","DOID:0050685","EFO:0008524","UMLS:C0262584","UMLS:C0334239","MESH:D018288","MEDDRA:10029882","MEDDRA:10041056","NCIT:C3915","NCIT:C4099","SNOMEDCT:11010461000119101","SNOMEDCT:74364000","medgen:90748"],"information_content":68.5}
{"id":"MONDO:0000408","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal alcohol spectrum disorder","equivalent_identifiers":["MONDO:0000408","DOID:0050696","UMLS:C2985290","MESH:D063647","MEDDRA:10087902","MEDDRA:10087903","NCIT:C92780","SNOMEDCT:609437000","medgen:457516"],"information_content":89.4}
{"id":"MONDO:0000409","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chorioamnionitis","equivalent_identifiers":["MONDO:0000409","DOID:0050697","EFO:0009948","UMLS:C0008495","MESH:D002821","MEDDRA:10008755","NCIT:C26720","SNOMEDCT:11612004","medgen:3056"],"information_content":95.4}
{"id":"MONDO:0000410","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"funisitis","equivalent_identifiers":["MONDO:0000410","DOID:0050698","UMLS:C1275592","MEDDRA:10064502","NCIT:C97077","SNOMEDCT:396343006","medgen:226906"],"information_content":95.4}
{"id":"MONDO:0000421","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inborn serine deficiency","equivalent_identifiers":["MONDO:0000421","DOID:0050721"],"information_content":83.6}
{"id":"MONDO:0000430","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mature T-cell and NK-cell non-Hodgkin lymphoma","equivalent_identifiers":["MONDO:0000430","DOID:0050743","DOID:0050749","UMLS:C5551485","MESH:D016411","NCIT:C3468","SNOMEDCT:109977009","medgen:1790498"],"information_content":63.9}
{"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":"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:0000446","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"midface dysplasia","equivalent_identifiers":["MONDO:0000446","DOID:0050767"],"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: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:0000450","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"secondary progressive multiple sclerosis","equivalent_identifiers":["MONDO:0000450","DOID:0050783","EFO:0008522","UMLS:C0751965","MEDDRA:10063400","SNOMEDCT:425500002","medgen:155969","icd11.foundation:1045965709"],"information_content":100.0}
{"id":"MONDO:0000451","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary progressive multiple sclerosis","equivalent_identifiers":["MONDO:0000451","DOID:0050784","EFO:0008520","UMLS:C0751964","MEDDRA:10063401","SNOMEDCT:428700003","medgen:155968","icd11.foundation:1020720762"],"information_content":100.0}
{"id":"MONDO:0000452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive relapsing multiple sclerosis","equivalent_identifiers":["MONDO:0000452","DOID:0050785","UMLS:C0393666","MEDDRA:10067063","SNOMEDCT:230374002","SNOMEDCT:724778008","medgen:95982"],"information_content":100.0}
{"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: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:0000456","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral creatine deficiency syndrome","equivalent_identifiers":["MONDO:0000456","DOID:0050798","OMIM.PS:300352","orphanet:79172","UMLS:C5244016","MEDDRA:10084104","medgen:1826001"],"information_content":90.9}
{"id":"MONDO:0000459","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesenchymal glioblastoma","equivalent_identifiers":["MONDO:0000459","DOID:0050805","UMLS:C3829122","NCIT:C111695","medgen:821870"],"information_content":92.8}
{"id":"MONDO:0000461","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nutritional biotin deficiency","equivalent_identifiers":["MONDO:0000461","DOID:0050810","UMLS:C0268680","UMLS:C3714396","MESH:C531633","MEDDRA:10004906","SNOMEDCT:413652008","SNOMEDCT:440731000124104","SNOMEDCT:49607006","medgen:785975"],"information_content":89.4}
{"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":"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: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: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":"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:0000480","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anismus","equivalent_identifiers":["MONDO:0000480","DOID:0050839","UMLS:C0267601","MEDDRA:10064125","SNOMEDCT:83605009","medgen:540810"],"information_content":100.0}
{"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":"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: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":"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:0000489","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetic encephalopathy","equivalent_identifiers":["MONDO:0000489","DOID:0050850","UMLS:C1868773","MEDDRA:10067018","medgen:1806599"],"information_content":100.0}
{"id":"MONDO:0000491","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"limb ischemia","equivalent_identifiers":["MONDO:0000491","DOID:0050852","UMLS:C2945695","MEDDRA:10077112","MEDDRA:10077142","SNOMEDCT:21631000119105","medgen:754513"],"information_content":100.0}
{"id":"MONDO:0000492","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic venous insufficiency","equivalent_identifiers":["MONDO:0000492","DOID:0050853","UMLS:C1306557","MEDDRA:10066682","medgen:727071"],"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":"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":"MONDO:0000496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemorrhagic cystitis","equivalent_identifiers":["MONDO:0000496","DOID:0050859","UMLS:C0085692","MESH:D000096722","MEDDRA:10011793","MEDDRA:10011794","MEDDRA:10019598","MEDDRA:10055853","NCIT:C114666","SNOMEDCT:87696004","medgen:508360"],"information_content":100.0}
{"id":"MONDO:0000497","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyometritis","equivalent_identifiers":["MONDO:0000497","DOID:0050862","UMLS:C0034215","MESH:D055112","MEDDRA:10037651","NCIT:C121207","SNOMEDCT:88981003","medgen:18784"],"information_content":95.4}
{"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}
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{"id":"MONDO:0000503","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung adenocarcinoma in situ","equivalent_identifiers":["MONDO:0000503","DOID:0050870","UMLS:C4521520","NCIT:C136486","medgen:1620128"],"information_content":92.8}
{"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":"MONDO:0000509","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-syndromic intellectual disability","equivalent_identifiers":["MONDO:0000509","DOID:0050889"],"information_content":66.8}
{"id":"MONDO:0000514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone squamous cell carcinoma","equivalent_identifiers":["MONDO:0000514","DOID:0050896"],"information_content":88.2}
{"id":"MONDO:0000515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone chondrosarcoma","equivalent_identifiers":["MONDO:0000515","DOID:0050897","UMLS:C3163843","SNOMEDCT:447792005","medgen:756255"],"information_content":90.9}
{"id":"MONDO:0000530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rectum adenoma","equivalent_identifiers":["MONDO:0000530","DOID:0050915","UMLS:C1302652","MEDDRA:10048829","NCIT:C5546","SNOMEDCT:399730005","medgen:266267"],"information_content":85.5}
{"id":"MONDO:0000548","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian clear cell cancer","equivalent_identifiers":["MONDO:0000548","DOID:0050934","UMLS:C1518230","NCIT:C40077","medgen:276544"],"information_content":86.3}
{"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":"MONDO:0000553","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uterine corpus endometrial carcinoma","equivalent_identifiers":["MONDO:0000553","DOID:0050939"],"information_content":100.0}
{"id":"MONDO:0000554","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endocervical adenocarcinoma","equivalent_identifiers":["MONDO:0000554","DOID:0050940","UMLS:C1263762","UMLS:C1266059","NCIT:C127907","SNOMEDCT:123842006","SNOMEDCT:128682003","medgen:688039"],"information_content":90.9}
{"id":"MONDO:0000565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infective endocarditis","equivalent_identifiers":["MONDO:0000565","DOID:0060000","orphanet:570762","UMLS:C1541923","NCIT:C78265","SNOMEDCT:233850007","medgen:323818","icd11.foundation:512128824"],"information_content":85.5}
{"id":"MONDO:0000569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune disorder of endocrine system","equivalent_identifiers":["MONDO:0000569","DOID:0060005","UMLS:C0342552","MEDDRA:10003818","MEDDRA:10078953","SNOMEDCT:237822008","medgen:575099"],"information_content":71.4}
{"id":"MONDO:0000572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"recombinase activating gene 1 deficiency","equivalent_identifiers":["MONDO:0000572","DOID:0060011"],"information_content":100.0}
{"id":"MONDO:0000588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune disorder of gastrointestinal tract","equivalent_identifiers":["MONDO:0000588","DOID:0060031"],"information_content":72.6}
{"id":"MONDO:0000590","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune disorder of peripheral nervous system","equivalent_identifiers":["MONDO:0000590","DOID:0060033"],"information_content":79.6}
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{"id":"MONDO:0000608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Juvenile gout","equivalent_identifiers":["MONDO:0000608","DOID:0060062","OMIM.PS:162000","UMLS:C0268113","MESH:C537696","SNOMEDCT:46785007","medgen:75651"],"information_content":87.2}
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{"id":"MONDO:0000621","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immune system cancer","equivalent_identifiers":["MONDO:0000621","DOID:0060083"],"information_content":63.5}
{"id":"MONDO:0000624","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign female reproductive system neoplasm","equivalent_identifiers":["MONDO:0000624","DOID:0060086","UMLS:C0744514","NCIT:C4934","medgen:152872"],"information_content":65.9}
{"id":"MONDO:0000627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign endocrine neoplasm","equivalent_identifiers":["MONDO:0000627","DOID:0060089","UMLS:C0347524","MEDDRA:10004252","MEDDRA:10004322","MEDDRA:10014710","MEDDRA:10060994","NCIT:C4621","SNOMEDCT:253004003","SNOMEDCT:92085000","medgen:87577"],"information_content":72.9}
{"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:0000634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thoracic benign neoplasm","equivalent_identifiers":["MONDO:0000634","DOID:0060097","UMLS:C0346440","NCIT:C4565","SNOMEDCT:255059002","medgen:138065"],"information_content":70.2}
{"id":"MONDO:0000637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"musculoskeletal system cancer","equivalent_identifiers":["MONDO:0000637","DOID:0060100","UMLS:C0036210","MEDDRA:10077675","NCIT:C166357","medgen:1714562"],"information_content":60.0}
{"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:0000649","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sensory system cancer","equivalent_identifiers":["MONDO:0000649","DOID:0060116"],"information_content":67.9}
{"id":"MONDO:0000653","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"integumentary system cancer","equivalent_identifiers":["MONDO:0000653","DOID:0060122"],"information_content":65.2}
{"id":"MONDO:0000654","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign connective and soft tissue neoplasm","equivalent_identifiers":["MONDO:0000654","DOID:0060123","UMLS:C0347481","NCIT:C53684","medgen:83866"],"information_content":57.3}
{"id":"MONDO:0000660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"akinetopsia","equivalent_identifiers":["MONDO:0000660","DOID:0060130"],"information_content":100.0}
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{"id":"MONDO:0000667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"auditory agnosia","equivalent_identifiers":["MONDO:0000667","DOID:0060137","UMLS:C0234501","SNOMEDCT:43659006","medgen:68602","HP:5200410"],"information_content":92.8}
{"id":"MONDO:0000668","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autotopagnosia","equivalent_identifiers":["MONDO:0000668","DOID:0060138","UMLS:C0234511","SNOMEDCT:24500009","medgen:65883","HP:5200413"],"information_content":100.0}
{"id":"MONDO:0000669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"color agnosia","equivalent_identifiers":["MONDO:0000669","DOID:0060139"],"information_content":100.0}
{"id":"MONDO:0000670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cortical deafness","equivalent_identifiers":["MONDO:0000670","DOID:0060140","UMLS:C0392704","medgen:98233"],"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":"MONDO:0000672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"form agnosia","equivalent_identifiers":["MONDO:0000672","DOID:0060142","UMLS:C0563621","SNOMEDCT:285757001","medgen:107878"],"information_content":100.0}
{"id":"MONDO:0000673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"integrative agnosia","equivalent_identifiers":["MONDO:0000673","DOID:0060143"],"information_content":100.0}
{"id":"MONDO:0000674","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mirror agnosia","equivalent_identifiers":["MONDO:0000674","DOID:0060144"],"information_content":100.0}
{"id":"MONDO:0000675","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pain agnosia","equivalent_identifiers":["MONDO:0000675","DOID:0060145","EFO:1001484","UMLS:C0563625","NCIT:C125664","SNOMEDCT:285761007","medgen:154351"],"information_content":100.0}
{"id":"MONDO:0000676","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phonagnosia","equivalent_identifiers":["MONDO:0000676","DOID:0060146"],"information_content":100.0}
{"id":"MONDO:0000678","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"simultanagnosia","equivalent_identifiers":["MONDO:0000678","DOID:0060148","UMLS:C2827429","MEDDRA:10082795","NCIT:C84395","medgen:415993","icd11.foundation:1669328667"],"information_content":95.4}
{"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":"MONDO:0000681","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tactile agnosia","equivalent_identifiers":["MONDO:0000681","DOID:0060151"],"information_content":100.0}
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{"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":"MONDO:0000690","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"body dysmorphic disorder","equivalent_identifiers":["MONDO:0000690","DOID:0060163","UMLS:C0005887","MESH:D057215","MEDDRA:10005892","MEDDRA:10013193","MEDDRA:10013484","MEDDRA:10049096","MEDDRA:10052793","SNOMEDCT:83482000","medgen:2302","icd11.foundation:731724655"],"information_content":100.0}
{"id":"MONDO:0000694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seasonal affective disorder","equivalent_identifiers":["MONDO:0000694","DOID:0060167","UMLS:C0085159","MESH:D016574","MEDDRA:10039775","MEDDRA:10064243","SNOMEDCT:247803002","medgen:38984"],"information_content":95.4}
{"id":"MONDO:0000700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hemiplegic migraine","equivalent_identifiers":["MONDO:0000700","DOID:0060178","OMIM.PS:141500","UMLS:C0338484","UMLS:C0477373","MEDDRA:10067039","NCIT:C117009","SNOMEDCT:95656000","medgen:87374","icd11.foundation:1827007904","ICD10:G43.8","ICD9:346.8"],"information_content":88.2}
{"id":"MONDO:0000701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ischemic colitis","equivalent_identifiers":["MONDO:0000701","DOID:0060181","UMLS:C0162529","MESH:D017091","MEDDRA:10009895","MEDDRA:10009896","MEDDRA:10023037","MEDDRA:10055744","SNOMEDCT:30588004","medgen:57930","ICD10:K55.9"],"information_content":100.0}
{"id":"MONDO:0000704","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphocytic colitis","equivalent_identifiers":["MONDO:0000704","DOID:0060184","EFO:1001294","UMLS:C0400822","MESH:D046730","MEDDRA:10025268","NCIT:C27147","SNOMEDCT:1187071008","SNOMEDCT:31437008","medgen:98006","icd11.foundation:1629251056","ICD10:K52.832"],"information_content":95.4}
{"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:0000707","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diversion colitis","equivalent_identifiers":["MONDO:0000707","DOID:0060187","UMLS:C0267532","MEDDRA:10084068","SNOMEDCT:51290000","medgen:540758","icd11.foundation:553304993"],"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":"MONDO:0000722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"synpolydactyly","equivalent_identifiers":["MONDO:0000722","DOID:0060242"],"information_content":87.2}
{"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":"MONDO:0000724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"specific language impairment","equivalent_identifiers":["MONDO:0000724","DOID:0060244","OMIM.PS:606711","EFO:1001510","UMLS:C0454651","SNOMEDCT:229746007","medgen:627772"],"information_content":88.2}
{"id":"MONDO:0000726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic scoliosis","equivalent_identifiers":["MONDO:0000726","DOID:0060250","UMLS:C0595995","SNOMEDCT:203639008","medgen:671079"],"information_content":86.3}
{"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":"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":"MONDO:0000732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"combined oxidative phosphorylation deficiency","equivalent_identifiers":["MONDO:0000732","DOID:0060286","OMIM.PS:609060","UMLS:C4540031","medgen:1626645","icd11.foundation:1953023896"],"information_content":72.4}
{"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:0000734","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ohdo syndrome","equivalent_identifiers":["MONDO:0000734","DOID:0060289"],"information_content":90.9}
{"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:0000739","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uvulitis","equivalent_identifiers":["MONDO:0000739","DOID:0060310","UMLS:C0042174","MEDDRA:10051962","NCIT:C128385","SNOMEDCT:300932000","medgen:508266","icd11.foundation:776797866","ICD10:K12.2"],"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: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":"MONDO:0000743","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oral hairy leukoplakia","equivalent_identifiers":["MONDO:0000743","DOID:0060315","EFO:1001360","UMLS:C0206186","MESH:D017733","MEDDRA:10024397","MEDDRA:10030979","MEDDRA:10052574","NCIT:C3722","SNOMEDCT:414952002","medgen:104797","ICD10:K13.3","HP:0025126"],"information_content":95.4}
{"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":"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":"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:0000749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast abscess","equivalent_identifiers":["MONDO:0000749","DOID:0060323","UMLS:C0151463","MEDDRA:10000275","MEDDRA:10006171","MEDDRA:10084506","SNOMEDCT:28432003","medgen:508760","icd11.foundation:1033306788","HP:0020225"],"information_content":100.0}
{"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:0000751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervical polyp","equivalent_identifiers":["MONDO:0000751","DOID:0060325","EFO:0009475","UMLS:C0007855","UMLS:C0007873","UMLS:C0153996","UMLS:C0347493","MESH:D002583","MEDDRA:10008225","MEDDRA:10008290","MEDDRA:10008297","MEDDRA:10008320","MEDDRA:10008338","MEDDRA:10008354","MEDDRA:10028986","MEDDRA:10029103","MEDDRA:10029109","MEDDRA:10036124","MEDDRA:10036125","NCIT:C2939","SNOMEDCT:123841004","SNOMEDCT:255196008","SNOMEDCT:65576009","medgen:507540","ICD10:D26.9","ICD9:219","HP:0030159"],"information_content":90.9}
{"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":"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":"MONDO:0000758","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bacillary angiomatosis","equivalent_identifiers":["MONDO:0000758","DOID:0060345","UMLS:C0085434","MESH:D016917","MEDDRA:10002463","MEDDRA:10003971","NCIT:C3477","SNOMEDCT:58213005","medgen:88409","icd11.foundation:1416616903"],"information_content":100.0}
{"id":"MONDO:0000766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal endothelial dystrophy","equivalent_identifiers":["MONDO:0000766","DOID:0060443","UMLS:C5441823","MEDDRA:10014823","SNOMEDCT:416960004","medgen:1779156"],"information_content":81.3}
{"id":"MONDO:0000771","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"allergic respiratory disease","equivalent_identifiers":["MONDO:0000771","DOID:0060496","UMLS:C1504369","MEDDRA:10063532","SNOMEDCT:421092003","medgen:734246"],"information_content":79.0}
{"id":"MONDO:0000774","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune neuropathy","equivalent_identifiers":["MONDO:0000774","DOID:0040087","DOID:0060499","UMLS:C2748363","MEDDRA:10070439","medgen:1843469"],"information_content":100.0}
{"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:0000807","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"latex allergy","equivalent_identifiers":["MONDO:0000807","DOID:0060532","UMLS:C0577628","MESH:D020315","MEDDRA:10056435","SNOMEDCT:1003755004","SNOMEDCT:300916003","medgen:107909","HP:0500094"],"information_content":100.0}
{"id":"MONDO:0000809","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"purpura fulminans","equivalent_identifiers":["MONDO:0000809","DOID:0060538","EFO:1001913","UMLS:C0085650","UMLS:C0311369","MESH:D055665","MEDDRA:10037556","SNOMEDCT:13507004","medgen:88448","icd11.foundation:1293848111","ICD10:D65"],"information_content":95.4}
{"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":"MONDO:0000812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal disease","equivalent_identifiers":["MONDO:0000812","DOID:0060564","UMLS:C0037933","MESH:D013122","MEDDRA:10041565","MEDDRA:10061368","MEDDRA:10070759","SNOMEDCT:699699005","medgen:52455"],"information_content":75.0}
{"id":"MONDO:0000816","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"abdominal obesity-metabolic syndrome","equivalent_identifiers":["MONDO:0000816","DOID:0060611","OMIM.PS:605552","UMLS:C0524620","UMLS:C2930930","MESH:C535554","MEDDRA:10052066","MEDDRA:10052070","MEDDRA:10082306","NCIT:C84442","medgen:419670"],"information_content":88.2}
{"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":"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":"MONDO:0000824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital diarrhea","equivalent_identifiers":["MONDO:0000824","DOID:0060774","OMIM.PS:214700"],"information_content":80.6}
{"id":"MONDO:0000827","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"salmonellosis","equivalent_identifiers":["MONDO:0000827","DOID:0060859","orphanet:795","EFO:1001418","UMLS:C0036117","MESH:D012480","MEDDRA:10039430","MEDDRA:10039436","MEDDRA:10039437","MEDDRA:10039438","MEDDRA:10039447","NCIT:C157974","SNOMEDCT:302231008","medgen:48542","ICD10:A02.0","ICD9:003.0"],"information_content":88.2}
{"id":"MONDO:0000831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombosis","equivalent_identifiers":["MONDO:0000831","DOID:0060903","UMLS:C0040053","MESH:D013927","MEDDRA:10043607","MEDDRA:10043628","NCIT:C26891","SNOMEDCT:118927008","SNOMEDCT:264579008","SNOMEDCT:439127006","medgen:21160"],"information_content":76.2}
{"id":"MONDO:0000836","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"disease of bone structure","equivalent_identifiers":["MONDO:0000836","DOID:0080010","UMLS:C0477681","medgen:1843487"],"information_content":81.3}
{"id":"MONDO:0000840","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysbaric osteonecrosis","equivalent_identifiers":["MONDO:0000840","DOID:0080018","UMLS:C3494941","SNOMEDCT:431591000124102","medgen:782135"],"information_content":100.0}
{"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":"MONDO:0000849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrogenesis imperfecta ossium","equivalent_identifiers":["MONDO:0000849","DOID:0080040"],"information_content":100.0}
{"id":"MONDO:0000858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal intestinal dysplasia","equivalent_identifiers":["MONDO:0000858","DOID:0080072","UMLS:C0345244","MEDDRA:10073659","SNOMEDCT:253783001","medgen:576840"],"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":"MONDO:0000870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood acute lymphoblastic leukemia","equivalent_identifiers":["MONDO:0000870","DOID:0080144","UMLS:C0023452","NCIT:C27290","NCIT:C3168","medgen:44122"],"information_content":77.3}
{"id":"MONDO:0000878","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cytomegalovirus retinitis","equivalent_identifiers":["MONDO:0000878","DOID:0080160","EFO:1001302","UMLS:C0206178","MESH:D017726","MEDDRA:10009704","MEDDRA:10011835","NCIT:C50521","SNOMEDCT:22455005","medgen:61532"],"information_content":100.0}
{"id":"MONDO:0000879","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous candidiasis","equivalent_identifiers":["MONDO:0000879","DOID:0080161","UMLS:C0006846","MESH:D002179","MEDDRA:10007141","MEDDRA:10007160","MEDDRA:10011673","MEDDRA:10027819","MEDDRA:10027824","MEDDRA:10027827","MEDDRA:10027838","MEDDRA:10040809","MEDDRA:10043652","MEDDRA:10054152","SNOMEDCT:49883006","medgen:2427"],"information_content":95.4}
{"id":"MONDO:0000888","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucositis","equivalent_identifiers":["MONDO:0000888","DOID:0080178","EFO:1001891","UMLS:C0521585","MEDDRA:10017981","NCIT:C3853","SNOMEDCT:95518006","medgen:636691"],"information_content":64.3}
{"id":"MONDO:0000889","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"haemophilus meningitis","equivalent_identifiers":["MONDO:0000889","DOID:0080179","EFO:1000955","UMLS:C0025292","UMLS:C0276028","MESH:D008583","MEDDRA:10018953","MEDDRA:10018955","MEDDRA:10019521","MEDDRA:10027241","MEDDRA:10060626","MEDDRA:10060656","SNOMEDCT:192643004","SNOMEDCT:5900006","medgen:7535","ICD10:G00.0","ICD9:320.0"],"information_content":100.0}
{"id":"MONDO:0000890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Zika virus congenital syndrome","equivalent_identifiers":["MONDO:0000890","DOID:0080180","UMLS:C4546023","MEDDRA:10081044","SNOMEDCT:762725007","medgen:1622152"],"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: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":"MONDO:0000904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complex cortical dysplasia with other brain malformations","equivalent_identifiers":["MONDO:0000904","DOID:0090131","OMIM.PS:614039"],"information_content":83.1}
{"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: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: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":"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":"MONDO:0000918","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometritis","equivalent_identifiers":["MONDO:0000918","DOID:1002","EFO:1001312","UMLS:C0014179","MESH:D004716","MEDDRA:10014791","MEDDRA:10014795","NCIT:C26764","SNOMEDCT:78623009","medgen:41789","HP:0025636"],"information_content":87.2}
{"id":"MONDO:0000920","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"duodenum cancer","equivalent_identifiers":["MONDO:0000920","DOID:10021","UMLS:C0153426","MESH:D004379","MEDDRA:10025885","MEDDRA:10025888","NCIT:C9328","SNOMEDCT:363403002","medgen:56301","ICD10:C17.0","ICD9:152.0"],"information_content":83.1}
{"id":"MONDO:0000922","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pelvic inflammatory disease","equivalent_identifiers":["MONDO:0000922","DOID:1003","EFO:1001388","UMLS:C0242172","MESH:D000292","MEDDRA:10013114","MEDDRA:10021965","MEDDRA:10034253","MEDDRA:10034254","MEDDRA:10034257","MEDDRA:10035007","NCIT:C3889","SNOMEDCT:198130006","medgen:66845","ICD10:N73.9","ICD9:614.9"],"information_content":81.3}
{"id":"MONDO:0000923","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"interstitial emphysema","equivalent_identifiers":["MONDO:0000923","DOID:10030","UMLS:C0038536","UMLS:C1370824","MESH:D013352","MEDDRA:10022606","MEDDRA:10042344","NCIT:C127819","NCIT:C34571","SNOMEDCT:11211003","SNOMEDCT:3830001","SNOMEDCT:77690003","medgen:234586","icd11.foundation:2008095771","ICD10:J98.2","ICD9:518.1","HP:6001021"],"information_content":95.4}
{"id":"MONDO:0000931","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometrial disorder","equivalent_identifiers":["MONDO:0000931","DOID:1005","UMLS:C0151622","MEDDRA:10013219","MEDDRA:10014753","MEDDRA:10014754","NCIT:C3504","SNOMEDCT:418632009","medgen:57473"],"information_content":61.6}
{"id":"MONDO:0000938","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastric leiomyoma","equivalent_identifiers":["MONDO:0000938","DOID:10087","UMLS:C0238440","MEDDRA:10081041","NCIT:C3876","SNOMEDCT:276812001","medgen:116062"],"information_content":100.0}
{"id":"MONDO:0000939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intracranial abscess","equivalent_identifiers":["MONDO:0000939","DOID:10095","UMLS:C0021874","MEDDRA:10022755","NCIT:C34734","SNOMEDCT:27614006","medgen:9529","icd11.foundation:1128677700","ICD9:324.0"],"information_content":92.8}
{"id":"MONDO:0000940","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trypanosomiasis","equivalent_identifiers":["MONDO:0000940","DOID:10113","UMLS:C0041227","MESH:D014352","MEDDRA:10044707","MEDDRA:10044709","MEDDRA:10044710","SNOMEDCT:78940002","medgen:52872","ICD10:B57.2","ICD9:086"],"information_content":88.2}
{"id":"MONDO:0000942","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal disease","equivalent_identifiers":["MONDO:0000942","DOID:10124","EFO:0009464","UMLS:C0010034","MESH:D003316","MEDDRA:10011003","MEDDRA:10013209","MEDDRA:10061453","NCIT:C26731","SNOMEDCT:15250008","medgen:3617","ICD10:H18.9","ICD9:371.9"],"information_content":66.5}
{"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":"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:0000958","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuroretinitis","equivalent_identifiers":["MONDO:0000958","DOID:10176","UMLS:C0154874","MEDDRA:10060701","SNOMEDCT:410471004","medgen:57826","icd11.foundation:418437487","ICD10:H30.9"],"information_content":100.0}
{"id":"MONDO:0000962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spindle cell lipoma","equivalent_identifiers":["MONDO:0000962","DOID:10184","UMLS:C0334474","NCIT:C4254","SNOMEDCT:27313007","SNOMEDCT:404058008","medgen:83153"],"information_content":95.4}
{"id":"MONDO:0000967","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conventional lipoma","equivalent_identifiers":["MONDO:0000967","DOID:10193","UMLS:C1333059","NCIT:C27530","medgen:272486"],"information_content":90.9}
{"id":"MONDO:0000977","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondroid lipoma","equivalent_identifiers":["MONDO:0000977","DOID:10208","UMLS:C1266131","NCIT:C6503","SNOMEDCT:128746001","SNOMEDCT:404065000","medgen:266104"],"information_content":100.0}
{"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":"MONDO:0000983","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exhibitionism","equivalent_identifiers":["MONDO:0000983","DOID:10236","UMLS:C0015269","MESH:D005084","MEDDRA:10015670","MEDDRA:10015671","MEDDRA:10016756","NCIT:C94352","SNOMEDCT:58349009","medgen:41913","ICD10:F65.2","ICD9:302.4"],"information_content":100.0}
{"id":"MONDO:0000984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thalassemia","equivalent_identifiers":["MONDO:0000984","DOID:10241","EFO:1001996","UMLS:C0039730","MESH:D013789","MEDDRA:10043388","MEDDRA:10043389","MEDDRA:10043394","MEDDRA:10054658","NCIT:C35069","SNOMEDCT:40108008","SNOMEDCT:84188003","medgen:21121","ICD10:D56","ICD9:282.4"],"information_content":78.0}
{"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":"MONDO:0000988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"discharging ear","equivalent_identifiers":["MONDO:0000988","DOID:10261","UMLS:C0155540","MEDDRA:10014003","MEDDRA:10033099","MEDDRA:10033100","MEDDRA:10033101","NCIT:C35199","SNOMEDCT:162364004","SNOMEDCT:300132001","SNOMEDCT:65668001","medgen:57608","ICD10:H92.1","ICD9:388.6"],"information_content":95.4}
{"id":"MONDO:0000989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mumps","equivalent_identifiers":["MONDO:0000989","DOID:10264","EFO:0007383","UMLS:C0026780","UMLS:C0376551","MESH:D009107","MESH:D019351","MEDDRA:10009300","MEDDRA:10028257","MEDDRA:10065183","NCIT:C29888","SNOMEDCT:240526004","SNOMEDCT:36989005","SNOMEDCT:721787000","medgen:44521","ICD10:B26","ICD9:072"],"information_content":95.4}
{"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":"MONDO:0001011","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast cyst","equivalent_identifiers":["MONDO:0001011","DOID:10350","EFO:1000848","UMLS:C0006144","MESH:D047688","MEDDRA:10006220","MEDDRA:10011736","MEDDRA:10087481","MEDDRA:10087482","NCIT:C5315","SNOMEDCT:399294002","medgen:14220","ICD10:N63","HP:6001046"],"information_content":92.8}
{"id":"MONDO:0001015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eosinophilic meningitis","equivalent_identifiers":["MONDO:0001015","DOID:10361","UMLS:C0154652","MEDDRA:10014960","MEDDRA:10027234","NCIT:C128374","SNOMEDCT:25671008","medgen:509620","ICD9:322.1"],"information_content":100.0}
{"id":"MONDO:0001019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"suppression amblyopia","equivalent_identifiers":["MONDO:0001019","DOID:10375","UMLS:C0750903","MEDDRA:10001912","MEDDRA:10001913","MEDDRA:10042158","MEDDRA:10042582","SNOMEDCT:35600002","medgen:152911","ICD10:H53.03","ICD9:368.01"],"information_content":95.4}
{"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":"MONDO:0001021","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ametropic amblyopia","equivalent_identifiers":["MONDO:0001021","DOID:10377","UMLS:C0152190","MEDDRA:10038266","SNOMEDCT:90927000","medgen:508919","ICD10:H53.02","ICD9:368.03"],"information_content":100.0}
{"id":"MONDO:0001022","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"disuse amblyopia","equivalent_identifiers":["MONDO:0001022","DOID:10378","UMLS:C0152187","UMLS:C0152189","MEDDRA:10001909","MEDDRA:10012409","SNOMEDCT:193638002","medgen:508918","ICD10:H53.01","ICD9:368.02"],"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: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:0001038","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"perforated corneal ulcer","equivalent_identifiers":["MONDO:0001038","DOID:10445","UMLS:C0151844","MEDDRA:10034387","MEDDRA:10045296","SNOMEDCT:46606001","medgen:508831","icd11.foundation:232838320","ICD10:H16.07","ICD9:370.06"],"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":"MONDO:0001040","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasopharyngitis","equivalent_identifiers":["MONDO:0001040","DOID:10460","UMLS:C0027441","UMLS:C0155826","MESH:D009304","MEDDRA:10009021","MEDDRA:10028810","MEDDRA:10067475","NCIT:C34837","SNOMEDCT:47841006","SNOMEDCT:51476001","medgen:6527","ICD10:J31.1","ICD9:472.2"],"information_content":92.8}
{"id":"MONDO:0001041","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dentin caries","equivalent_identifiers":["MONDO:0001041","DOID:10461","UMLS:C0266846","SNOMEDCT:442551007","medgen:540210","ICD10:K02","ICD9:521.02"],"information_content":100.0}
{"id":"MONDO:0001042","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"patellar tendinitis","equivalent_identifiers":["MONDO:0001042","DOID:10471","UMLS:C0158317","MEDDRA:10034123","SNOMEDCT:37785001","medgen:510513","icd11.foundation:1366847963","ICD10:M76.5","ICD9:726.64"],"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: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":"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:0001049","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dressler syndrome","equivalent_identifiers":["MONDO:0001049","DOID:10507","UMLS:C0152107","MEDDRA:10013637","MEDDRA:10013638","MEDDRA:10036233","MEDDRA:10036401","SNOMEDCT:66189004","SNOMEDCT:827164008","medgen:508890","icd11.foundation:1353640147","ICD10:I24.1","ICD9:411.0"],"information_content":100.0}
{"id":"MONDO:0001052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic fungal otitis externa","equivalent_identifiers":["MONDO:0001052","DOID:10519","UMLS:C0155396","MEDDRA:10009010","SNOMEDCT:111898002","medgen:509951","ICD9:380.15"],"information_content":100.0}
{"id":"MONDO:0001054","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"double pterygium","equivalent_identifiers":["MONDO:0001054","DOID:10525","UMLS:C0155157","MEDDRA:10013612","SNOMEDCT:41564009","medgen:509817","ICD9:372.44"],"information_content":100.0}
{"id":"MONDO:0001056","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastric cancer","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:0001060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microinvasive gastric cancer","equivalent_identifiers":["MONDO:0001060","DOID:10541","UMLS:C0349530","NCIT:C27131","SNOMEDCT:276809004","medgen:138098"],"information_content":95.4}
{"id":"MONDO:0001065","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"supine hypotensive syndrome","equivalent_identifiers":["MONDO:0001065","DOID:10556","UMLS:C0157456","UMLS:C0341966","MEDDRA:10026926","SNOMEDCT:88887003","medgen:574749","ICD9:669.20"],"information_content":100.0}
{"id":"MONDO:0001067","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"early yaws","equivalent_identifiers":["MONDO:0001067","DOID:10568","UMLS:C0275990","UMLS:C0275998","UMLS:C0343834","MEDDRA:10022036","NCIT:C41352","SNOMEDCT:23191004","SNOMEDCT:266147005","SNOMEDCT:30283007","SNOMEDCT:49442000","medgen:124440","ICD10:A66.0","ICD10:A66.6","ICD9:102.0","ICD9:102.6"],"information_content":100.0}
{"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: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":"MONDO:0001074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic tic disorder","equivalent_identifiers":["MONDO:0001074","DOID:10600","UMLS:C0008701","MEDDRA:10068454","MEDDRA:10076661","NCIT:C116768","medgen:40301","ICD10:F95.1","ICD9:307.22"],"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:0001078","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tropical sprue","equivalent_identifiers":["MONDO:0001078","DOID:10607","UMLS:C0038054","MESH:D013182","MEDDRA:10044697","NCIT:C45428","SNOMEDCT:47384003","medgen:21300","icd11.foundation:316377284","ICD10:K90.1","ICD9:579.1"],"information_content":100.0}
{"id":"MONDO:0001079","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic steatorrhea","equivalent_identifiers":["MONDO:0001079","DOID:10610","UMLS:C0152166","MEDDRA:10033641","MEDDRA:10033642","SNOMEDCT:54576000","medgen:508909","ICD10:K90.3","ICD9:579.4"],"information_content":100.0}
{"id":"MONDO:0001083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Fanconi renotubular syndrome","equivalent_identifiers":["MONDO:0001083","DOID:1062","UMLS:C0015624","MESH:D005198","MEDDRA:10016219","MEDDRA:10037081","NCIT:C3034","SNOMEDCT:236466005","SNOMEDCT:40488004","medgen:4653"],"information_content":83.6}
{"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":"MONDO:0001087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizotypal personality disorder","equivalent_identifiers":["MONDO:0001087","DOID:10646","UMLS:C0036363","UMLS:C1443045","MESH:D012569","MEDDRA:10039650","MEDDRA:10039651","NCIT:C92632","SNOMEDCT:31027006","medgen:1826899","ICD10:F21","ICD9:301.22"],"information_content":100.0}
{"id":"MONDO:0001091","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipoma of colon","equivalent_identifiers":["MONDO:0001091","DOID:10655","UMLS:C0940607","NCIT:C5493","medgen:182652"],"information_content":100.0}
{"id":"MONDO:0001098","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"separation anxiety disorder","equivalent_identifiers":["MONDO:0001098","DOID:10685","EFO:1001916","UMLS:C0003477","UMLS:C1527281","MESH:D001010","MEDDRA:10040045","NCIT:C35014","SNOMEDCT:11806006","SNOMEDCT:126943008","medgen:1999","icd11.foundation:830200631"],"information_content":100.0}
{"id":"MONDO:0001099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lactocele","equivalent_identifiers":["MONDO:0001099","DOID:10686","UMLS:C0152243","MESH:C535998","MEDDRA:10017590","NCIT:C3515","SNOMEDCT:42385006","medgen:101829","icd11.foundation:1987155556","ICD10:N64.89","ICD9:611.5","HP:0430075"],"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:0001103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"giardiasis","equivalent_identifiers":["MONDO:0001103","DOID:10718","UMLS:C0017536","MESH:D005873","MEDDRA:0017536","MEDDRA:10018260","MEDDRA:10018261","MEDDRA:10018262","MEDDRA:10064239","SNOMEDCT:10679007","SNOMEDCT:58265007","medgen:42213","icd11.foundation:433310499","ICD10:A07.1","ICD9:007.1"],"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: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":"MONDO:0001109","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"petrositis","equivalent_identifiers":["MONDO:0001109","DOID:10755","UMLS:C0155448","UMLS:C0155449","UMLS:C0155450","MESH:D059270","MEDDRA:10001001","MEDDRA:10009104","MEDDRA:10034762","MEDDRA:10034763","SNOMEDCT:28593007","SNOMEDCT:34997001","SNOMEDCT:51211002","medgen:452133","icd11.foundation:716546173","ICD10:H70.2","ICD10:H70.21","ICD10:H70.22","ICD9:383.2","ICD9:383.21","ICD9:383.22"],"information_content":100.0}
{"id":"MONDO:0001112","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bubonic plague","equivalent_identifiers":["MONDO:0001112","DOID:10773","UMLS:C0282312","MEDDRA:10006520","SNOMEDCT:50797007","medgen:76407","icd11.foundation:1742025109","ICD10:A20.0","ICD9:020.0"],"information_content":100.0}
{"id":"MONDO:0001115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial polycythemia","equivalent_identifiers":["MONDO:0001115","DOID:10780","OMIM.PS:133100","UMLS:C0152264","MEDDRA:10016209","MEDDRA:10016210","NCIT:C26955","medgen:57520","ICD9:289.6"],"information_content":85.5}
{"id":"MONDO:0001116","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesenteric lymphadenitis","equivalent_identifiers":["MONDO:0001116","DOID:10782","UMLS:C0025469","MESH:D008640","MEDDRA:10027393","MEDDRA:10029717","MEDDRA:10088083","NCIT:C26830","SNOMEDCT:267548000","SNOMEDCT:44897000","medgen:6318","ICD10:I88.0","ICD9:289.2"],"information_content":95.4}
{"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:0001118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Queensland tick typhus","equivalent_identifiers":["MONDO:0001118","DOID:10784","UMLS:C2979888","MEDDRA:10037731","MEDDRA:10039127","SNOMEDCT:68981009","medgen:755996"],"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:0001121","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontal sinusitis","equivalent_identifiers":["MONDO:0001121","DOID:10791","UMLS:C0016735","MESH:D015522","NCIT:C34626","SNOMEDCT:78737005","medgen:8919"],"information_content":92.8}
{"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:0001132","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sexual sadism","equivalent_identifiers":["MONDO:0001132","DOID:10817","UMLS:C0036039","UMLS:C0036913","MESH:D012448","MEDDRA:10039367","MEDDRA:10040487","NCIT:C94358","SNOMEDCT:112081003","SNOMEDCT:59394009","SNOMEDCT:765765000","medgen:19957","ICD10:F65.52","ICD9:302.84"],"information_content":100.0}
{"id":"MONDO:0001133","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant essential hypertension","equivalent_identifiers":["MONDO:0001133","DOID:10823","UMLS:C0024588","MEDDRA:10015490","MEDDRA:10025548","NCIT:C34802","SNOMEDCT:78975002","medgen:9866","ICD9:401.0"],"information_content":100.0}
{"id":"MONDO:0001135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"voyeurism","equivalent_identifiers":["MONDO:0001135","DOID:10834","UMLS:C0042979","MESH:D014843","MEDDRA:10047717","NCIT:C94360","SNOMEDCT:63835008","medgen:12126","ICD10:F65.3","ICD9:302.82"],"information_content":100.0}
{"id":"MONDO:0001137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Murray valley encephalitis","equivalent_identifiers":["MONDO:0001137","DOID:10842","UMLS:C0153066","MEDDRA:10003804","MEDDRA:10014583","MEDDRA:10053981","SNOMEDCT:66454007","medgen:509134","icd11.foundation:1040970454","ICD10:A83.4","ICD9:062.4"],"information_content":100.0}
{"id":"MONDO:0001139","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Masochism","equivalent_identifiers":["MONDO:0001139","DOID:10849","UMLS:C0024862","UMLS:C0036908","MESH:D008398","MEDDRA:10026864","MEDDRA:10040484","NCIT:C94356","SNOMEDCT:51239001","SNOMEDCT:64031009","medgen:20727","ICD10:F65.51","ICD9:302.83"],"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":"MONDO:0001143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paralytic strabismus","equivalent_identifiers":["MONDO:0001143","DOID:10863","EFO:0009678","UMLS:C0152221","MEDDRA:10033844","MEDDRA:10033845","SNOMEDCT:400942002","medgen:508935","ICD10:H49","ICD9:378.5","HP:0031775"],"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: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: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":"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":"MONDO:0001154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Siberian tick typhus","equivalent_identifiers":["MONDO:0001154","DOID:10921","UMLS:C0549160","MEDDRA:10029786","MEDDRA:10029787","SNOMEDCT:186781003","medgen:639822","ICD10:A77.2","ICD9:082.2"],"information_content":100.0}
{"id":"MONDO:0001155","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Marginal ulcer","equivalent_identifiers":["MONDO:0001155","DOID:10927","UMLS:C0024799","UMLS:C0156042","UMLS:C0392502","UMLS:C1384631","MEDDRA:10000773","MEDDRA:10000775","MEDDRA:10008884","MEDDRA:10008885","MEDDRA:10017881","MEDDRA:10018035","MEDDRA:10018036","MEDDRA:10042127","MEDDRA:10045307","MEDDRA:10055259","NCIT:C196823","NCIT:C196830","NCIT:C79766","SNOMEDCT:16121001","SNOMEDCT:4269005","SNOMEDCT:63954007","medgen:730503","icd11.foundation:491213123","ICD10:K28.0","ICD9:534.0"],"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":"MONDO:0001157","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dependent personality disorder","equivalent_identifiers":["MONDO:0001157","DOID:10931","UMLS:C0011548","MESH:D003859","MEDDRA:10012354","MEDDRA:10012355","MEDDRA:10034102","NCIT:C92637","SNOMEDCT:84466009","medgen:4225","icd11.foundation:1283123068","ICD10:F60.7","ICD9:301.6"],"information_content":100.0}
{"id":"MONDO:0001158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obsessive-compulsive personality disorder","equivalent_identifiers":["MONDO:0001158","DOID:10932","UMLS:C0009595","UMLS:C1704373","MESH:D003193","MEDDRA:10002196","MEDDRA:10002197","MEDDRA:10010223","MEDDRA:10029894","MEDDRA:10029901","NCIT:C92638","SNOMEDCT:112091009","SNOMEDCT:1376001","SNOMEDCT:473456000","medgen:40432","ICD10:F60.5","ICD9:301.4"],"information_content":100.0}
{"id":"MONDO:0001159","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple personality disorder","equivalent_identifiers":["MONDO:0001159","DOID:10934","UMLS:C0026773","MESH:D009105","MEDDRA:10013468","MEDDRA:10028241","MEDDRA:10028242","NCIT:C94330","SNOMEDCT:31611000","medgen:44520","ICD10:F44.81","ICD9:300.14"],"information_content":100.0}
{"id":"MONDO:0001160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dissociative disorder","equivalent_identifiers":["MONDO:0001160","DOID:10935","UMLS:C0012746","UMLS:C0041857","MESH:D004213","MEDDRA:10013462","MEDDRA:10013463","MEDDRA:10013464","MEDDRA:10013465","NCIT:C92197","SNOMEDCT:44376007","medgen:3871","ICD10:F44.9","ICD10:F48.9","ICD9:300.15","ICD9:300.9"],"information_content":89.4}
{"id":"MONDO:0001161","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizoid personality disorder","equivalent_identifiers":["MONDO:0001161","DOID:10936","UMLS:C0036339","MESH:D012557","MEDDRA:10039623","MEDDRA:10039624","MEDDRA:10039625","NCIT:C92631","SNOMEDCT:52954000","medgen:20662","icd11.foundation:1524611454","ICD10:F60.1","ICD9:301.2"],"information_content":100.0}
{"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:0001163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paranoid personality disorder","equivalent_identifiers":["MONDO:0001163","DOID:10938","UMLS:C0030477","MESH:D010260","MEDDRA:10033868","MEDDRA:10033869","NCIT:C92630","SNOMEDCT:13601005","medgen:45321","icd11.foundation:1066693864","ICD10:F60.0","ICD9:301.0"],"information_content":100.0}
{"id":"MONDO:0001164","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"antisocial personality disorder","equivalent_identifiers":["MONDO:0001164","DOID:10939","UMLS:C0003431","MESH:D000987","MEDDRA:10002821","MEDDRA:10002822","MEDDRA:10003473","MEDDRA:10013455","MEDDRA:10037217","MEDDRA:10037218","MEDDRA:10041260","MEDDRA:10041261","NCIT:C88413","SNOMEDCT:26665006","medgen:1611","icd11.foundation:779282819","ICD10:F60.2","ICD9:301.7"],"information_content":100.0}
{"id":"MONDO:0001165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tongue disorder","equivalent_identifiers":["MONDO:0001165","DOID:10944","UMLS:C0040409","MESH:D014060","MEDDRA:10013275","MEDDRA:10043951","MEDDRA:10043952","MEDDRA:10043954","MEDDRA:10045691","NCIT:C173793","SNOMEDCT:69244009","medgen:52777","ICD10:K14","ICD9:529.9"],"information_content":75.2}
{"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":"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: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:0001169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spastic monoplegia","equivalent_identifiers":["MONDO:0001169","DOID:10968","UMLS:C0154698","MEDDRA:10021743","MEDDRA:10027936","medgen:57593","ICD9:343.3"],"information_content":95.4}
{"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:0001172","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"salpingo-oophoritis","equivalent_identifiers":["MONDO:0001172","DOID:10972","UMLS:C0036133","MEDDRA:10049677","NCIT:C171201","SNOMEDCT:46536000","medgen:508106","ICD10:N70","ICD9:614.2"],"information_content":92.8}
{"id":"MONDO:0001178","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudopterygium","equivalent_identifiers":["MONDO:0001178","DOID:11028","UMLS:C0155161","MEDDRA:10037147","SNOMEDCT:66139007","medgen:509821","ICD9:372.52"],"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:0001180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bullous keratopathy","equivalent_identifiers":["MONDO:0001180","DOID:11031","UMLS:C0155111","MEDDRA:10006564","NCIT:C26970","SNOMEDCT:57207003","medgen:57600","icd11.foundation:1270454490","ICD10:H18.1","ICD9:371.23"],"information_content":100.0}
{"id":"MONDO:0001185","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dissociative amnesia","equivalent_identifiers":["MONDO:0001185","DOID:11037","UMLS:C0236795","MEDDRA:10013461","MEDDRA:10037186","NCIT:C94328","SNOMEDCT:84209002","medgen:66743","icd11.foundation:626975732","ICD10:F44.0","ICD9:300.12"],"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":"MONDO:0001187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urinary bladder cancer","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:0001191","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hirudiniasis","equivalent_identifiers":["MONDO:0001191","DOID:11079","UMLS:C0019575","MEDDRA:10020113","SNOMEDCT:64351000","medgen:507813","ICD10:B88.3","ICD9:134.2"],"information_content":92.8}
{"id":"MONDO:0001195","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spotted fever","equivalent_identifiers":["MONDO:0001195","DOID:11104","orphanet:102022","EFO:1002047","UMLS:C0038041","UMLS:C5680374","MESH:D000073605","MEDDRA:10041743","SNOMEDCT:186771002","medgen:1826170","icd11.foundation:9953620","ICD10:A77.9","ICD9:082.0"],"information_content":81.3}
{"id":"MONDO:0001197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"qualitative platelet defect","equivalent_identifiers":["MONDO:0001197","DOID:11125","UMLS:C0235604","UMLS:C2585231","NCIT:C171098","SNOMEDCT:267532001","medgen:536418","ICD9:287.1"],"information_content":92.8}
{"id":"MONDO:0001202","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostatic cyst","equivalent_identifiers":["MONDO:0001202","DOID:11133","UMLS:C1443972","MEDDRA:10067640","SNOMEDCT:409658007","medgen:731233","ICD10:N42.83","ICD9:600.3"],"information_content":100.0}
{"id":"MONDO:0001203","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prolapse of lacrimal gland","equivalent_identifiers":["MONDO:0001203","DOID:11134","UMLS:C0155231","MEDDRA:10013177","SNOMEDCT:84777002","medgen:509860","ICD10:H04.16","ICD9:375.16"],"information_content":100.0}
{"id":"MONDO:0001207","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal respiratory failure","equivalent_identifiers":["MONDO:0001207","DOID:11161","UMLS:C0521648","MEDDRA:10028975","MEDDRA:10038697","SNOMEDCT:95619009","medgen:105483","ICD10:P28.5","ICD9:770.84"],"information_content":100.0}
{"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: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":"MONDO:0001212","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-suppurative otitis media","equivalent_identifiers":["MONDO:0001212","DOID:11180","UMLS:C0271446","MEDDRA:10029564","SNOMEDCT:275481002","medgen:543351","ICD10:H65","ICD9:381.4"],"information_content":83.6}
{"id":"MONDO:0001216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulp degeneration","equivalent_identifiers":["MONDO:0001216","DOID:11189","UMLS:C0034100","MEDDRA:10037462","NCIT:C34962","SNOMEDCT:22361007","medgen:19578","icd11.foundation:868011012","ICD10:K04.2","ICD9:522.2"],"information_content":100.0}
{"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":"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:0001222","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital T-cell immunodeficiency","equivalent_identifiers":["MONDO:0001222","DOID:11200","UMLS:C1333147","NCIT:C27872","medgen:232099"],"information_content":87.2}
{"id":"MONDO:0001225","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"opioid abuse","equivalent_identifiers":["MONDO:0001225","DOID:11206","UMLS:C0029095","UMLS:C2874460","UMLS:C2874461","UMLS:C2874467","UMLS:C2874468","UMLS:C2874469","UMLS:C3647215","UMLS:C4237237","UMLS:C4237242","UMLS:C4237245","UMLS:C4237251","UMLS:C4268215","UMLS:C4509038","UMLS:C4509039","UMLS:C4536271","MEDDRA:10030887","SNOMEDCT:5602001","medgen:508001","ICD10:F11.1","ICD9:305.5"],"information_content":100.0}
{"id":"MONDO:0001226","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute contagious conjunctivitis","equivalent_identifiers":["MONDO:0001226","DOID:11213","UMLS:C0275586","UMLS:C1313983","MEDDRA:10059861","NCIT:C35704","SNOMEDCT:399219006","medgen:272038"],"information_content":100.0}
{"id":"MONDO:0001227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic tympanitis","equivalent_identifiers":["MONDO:0001227","DOID:11217","UMLS:C0395849","MEDDRA:10009020","MEDDRA:10086672","SNOMEDCT:89723004","medgen:583089","ICD10:H73.1","ICD9:384.1"],"information_content":100.0}
{"id":"MONDO:0001228","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conjunctival folliculosis","equivalent_identifiers":["MONDO:0001228","DOID:11219","UMLS:C0155143","MEDDRA:10000749","SNOMEDCT:41308008","medgen:509806","ICD10:H10.01","ICD9:372.02"],"information_content":100.0}
{"id":"MONDO:0001233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tenonitis","equivalent_identifiers":["MONDO:0001233","DOID:11233","UMLS:C0155259","SNOMEDCT:8976003","medgen:509879","ICD9:376.04"],"information_content":100.0}
{"id":"MONDO:0001234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adhesive otitis media","equivalent_identifiers":["MONDO:0001234","DOID:11235","UMLS:C0155478","MEDDRA:10001287","MEDDRA:10001288","MEDDRA:10027582","MEDDRA:10085925","SNOMEDCT:7699004","medgen:509984","ICD10:H74.1","ICD9:385.1"],"information_content":100.0}
{"id":"MONDO:0001238","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polycythemia neonatorum","equivalent_identifiers":["MONDO:0001238","DOID:11242","UMLS:C0272153","MEDDRA:10036059","MEDDRA:10060476","NCIT:C27069","SNOMEDCT:32984002","medgen:78794","ICD10:P61.1","ICD9:776.4"],"information_content":100.0}
{"id":"MONDO:0001239","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anemia of prematurity","equivalent_identifiers":["MONDO:0001239","DOID:11243","UMLS:C0158996","MEDDRA:10002074","MEDDRA:10002307","NCIT:C97167","SNOMEDCT:47100003","medgen:472907","ICD10:P61.2","ICD9:776.6"],"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: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:0001246","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"typhus","equivalent_identifiers":["MONDO:0001246","DOID:11256","orphanet:102023","EFO:0009117","UMLS:C0041471","UMLS:C0343758","MEDDRA:10045276","MEDDRA:10045277","MEDDRA:10045278","MEDDRA:10061393","SNOMEDCT:240613006","medgen:11976","icd11.foundation:292650041","ICD10:A75.0","ICD10:A75.2","ICD10:A75.9","ICD9:080","ICD9:081.0","ICD9:081.9"],"information_content":88.2}
{"id":"MONDO:0001247","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"social phobia","equivalent_identifiers":["MONDO:0001247","DOID:11257","EFO:1001917","UMLS:C0031572","MESH:D000072861","MEDDRA:10041242","MEDDRA:10041250","NCIT:C34927","SNOMEDCT:25501002","medgen:19254","ICD10:F40.1","ICD9:300.23"],"information_content":100.0}
{"id":"MONDO:0001249","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trachoma","equivalent_identifiers":["MONDO:0001249","DOID:11265","UMLS:C0040592","UMLS:C0153107","UMLS:C0153108","MESH:D014141","MEDDRA:10044325","MEDDRA:10044327","MEDDRA:10044328","MEDDRA:10044329","SNOMEDCT:2576002","SNOMEDCT:29976007","SNOMEDCT:52812002","medgen:52801","icd11.foundation:372424530","ICD10:A71","ICD10:A71.0","ICD10:A71.1","ICD9:076","ICD9:076.0","ICD9:076.1"],"information_content":100.0}
{"id":"MONDO:0001250","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratomalacia","equivalent_identifiers":["MONDO:0001250","DOID:11267","UMLS:C0152455","MESH:C536156","MEDDRA:10023361","MEDDRA:10023362","SNOMEDCT:85149007","medgen:57777","icd11.foundation:497316188","ICD10:H18.44","ICD9:371.45"],"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:0001257","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Microaneurysm","equivalent_identifiers":["MONDO:0001257","DOID:11295","UMLS:C0154834","UMLS:C0333101","MESH:D000071071","MEDDRA:10027526","MEDDRA:10038879","MEDDRA:10038880","MEDDRA:10038882","NCIT:C35842","SNOMEDCT:34037000","SNOMEDCT:87104008","medgen:472899","ICD9:362.14","HP:0032416"],"information_content":92.8}
{"id":"MONDO:0001262","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"African histoplasmosis","equivalent_identifiers":["MONDO:0001262","DOID:11315","UMLS:C0153270","UMLS:C0220977","MEDDRA:10021811","SNOMEDCT:78511005","medgen:526120","ICD9:115.10"],"information_content":100.0}
{"id":"MONDO:0001265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizophreniform disorder","equivalent_identifiers":["MONDO:0001265","DOID:11328","UMLS:C0036358","MEDDRA:10039647","MEDDRA:10039648","NCIT:C94376","SNOMEDCT:88975006","medgen:11336","ICD10:F20.81","ICD9:295.4"],"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":"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: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:0001272","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"functional diarrhea","equivalent_identifiers":["MONDO:0001272","DOID:11371","UMLS:C0156173","MEDDRA:10017495","MEDDRA:10017496","SNOMEDCT:47812002","medgen:510199","ICD10:K59.1","ICD9:564.5"],"information_content":100.0}
{"id":"MONDO:0001274","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anal spasm","equivalent_identifiers":["MONDO:0001274","DOID:11374","UMLS:C0152167","MEDDRA:10002173","SNOMEDCT:17440005","medgen:508910","icd11.foundation:647005938","ICD10:K59.4","ICD9:564.6"],"information_content":95.4}
{"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":"MONDO:0001276","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"expressive language disorder","equivalent_identifiers":["MONDO:0001276","DOID:11385","UMLS:C0236826","UMLS:C0454638","MEDDRA:10015715","NCIT:C92562","SNOMEDCT:229733002","SNOMEDCT:268734000","medgen:452300","ICD10:F80.1","ICD9:315.31"],"information_content":95.4}
{"id":"MONDO:0001280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choroiditis","equivalent_identifiers":["MONDO:0001280","DOID:11406","orphanet:280892","UMLS:C0008526","MESH:D002833","MEDDRA:10008792","NCIT:C35111","SNOMEDCT:16553002","medgen:40282","icd11.foundation:1884626736"],"information_content":88.2}
{"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:0001284","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometriosis of intestine","equivalent_identifiers":["MONDO:0001284","DOID:11428","UMLS:C0156347","MEDDRA:10014782","SNOMEDCT:5562006","medgen:510251","icd11.foundation:706777963","ICD10:N80.5","ICD9:617.5"],"information_content":100.0}
{"id":"MONDO:0001285","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometriosis of pelvic peritoneum","equivalent_identifiers":["MONDO:0001285","DOID:11429","UMLS:C0156345","MEDDRA:10014785","SNOMEDCT:198251001","medgen:510249","icd11.foundation:1015401835","ICD10:N80.3","ICD9:617.3"],"information_content":100.0}
{"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:0001288","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometriosis of rectovaginal septum and vagina","equivalent_identifiers":["MONDO:0001288","DOID:11431","UMLS:C0156346","UMLS:C4281749","NCIT:C128064","SNOMEDCT:198253003","medgen:510250","ICD10:N80.4","ICD9:617.4"],"information_content":100.0}
{"id":"MONDO:0001291","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain compression","equivalent_identifiers":["MONDO:0001291","DOID:11457","UMLS:C0009592","MEDDRA:10006112","MEDDRA:10010215","SNOMEDCT:46963008","medgen:507585","ICD10:G93.5","ICD9:348.4"],"information_content":100.0}
{"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":"MONDO:0001295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"idiopathic peripheral autonomic neuropathy","equivalent_identifiers":["MONDO:0001295","DOID:11488","UMLS:C0154690","MEDDRA:10021237","SNOMEDCT:86489003","medgen:509630","icd11.foundation:1422269907","ICD10:G90.0","ICD9:337.0"],"information_content":100.0}
{"id":"MONDO:0001296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired night blindness","equivalent_identifiers":["MONDO:0001296","DOID:11491","UMLS:C0152202","MEDDRA:10000573","SNOMEDCT:53808001","medgen:508926","icd11.foundation:1609326234","ICD10:H53.62","ICD9:368.62"],"information_content":100.0}
{"id":"MONDO:0001297","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiac tamponade","equivalent_identifiers":["MONDO:0001297","DOID:115","EFO:1001285","UMLS:C0007177","MESH:D002305","MEDDRA:10007610","MEDDRA:10043113","MEDDRA:10053565","NCIT:C50481","SNOMEDCT:35304003","medgen:40108","icd11.foundation:216782575","ICD10:I31.4","ICD9:423.3","HP:0033415"],"information_content":100.0}
{"id":"MONDO:0001300","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autonomic neuropathy","equivalent_identifiers":["MONDO:0001300","DOID:0060054","DOID:11504","UMLS:C0259749","MEDDRA:10003841","MEDDRA:10061666","NCIT:C27033","SNOMEDCT:277879009","medgen:82621"],"information_content":90.9}
{"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:0001307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal abscess","equivalent_identifiers":["MONDO:0001307","DOID:11543","UMLS:C0155091","MEDDRA:10010985","MEDDRA:10010986","NCIT:C26969","SNOMEDCT:64366002","medgen:56351","icd11.foundation:485862779","ICD10:H16.31","ICD9:370.55"],"information_content":100.0}
{"id":"MONDO:0001308","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal deposit","equivalent_identifiers":["MONDO:0001308","DOID:11547","UMLS:C0162281","MEDDRA:10010999","MEDDRA:10011000","MEDDRA:10012368","SNOMEDCT:74460005","medgen:511537","icd11.foundation:1760427912","ICD10:H18.00","ICD9:371.10"],"information_content":90.9}
{"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":"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:0001315","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurocirculatory asthenia","equivalent_identifiers":["MONDO:0001315","DOID:11569","UMLS:C0027821","UMLS:C1535893","MESH:D009449","MESH:D054971","MEDDRA:10007592","MEDDRA:10007655","MEDDRA:10014293","MEDDRA:10029262","MEDDRA:10029334","MEDDRA:10042803","MEDDRA:10058076","MEDDRA:10063927","MEDDRA:10086448","NCIT:C84973","SNOMEDCT:191962000","SNOMEDCT:870368003","medgen:283928","ICD9:306.2"],"information_content":95.4}
{"id":"MONDO:0001317","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phlyctenulosis","equivalent_identifiers":["MONDO:0001317","DOID:11581","UMLS:C0155080","MEDDRA:10034910","MEDDRA:10089366","SNOMEDCT:67895005","medgen:509775","ICD10:H16.25","ICD9:370.31"],"information_content":100.0}
{"id":"MONDO:0001325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"penile cancer","equivalent_identifiers":["MONDO:0001325","DOID:11615","orphanet:398043","UMLS:C0153600","UMLS:C0153601","MEDDRA:10025767","MEDDRA:10026339","MEDDRA:10034299","MEDDRA:10034300","MEDDRA:10034307","MEDDRA:10061337","NCIT:C194358","NCIT:C7547","SNOMEDCT:188230001","SNOMEDCT:363516004","medgen:102277","ICD10:C60","ICD10:C60.2","ICD9:187.3","ICD9:187.4"],"information_content":71.2}
{"id":"MONDO:0001326","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dental pulp necrosis","equivalent_identifiers":["MONDO:0001326","DOID:11623","UMLS:C0011407","UMLS:C0376304","MESH:D003790","MEDDRA:10012327","MEDDRA:10028874","SNOMEDCT:42711005","medgen:8306","ICD10:K04.1","ICD9:522.1"],"information_content":100.0}
{"id":"MONDO:0001327","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pelvic muscle wasting","equivalent_identifiers":["MONDO:0001327","DOID:11629","UMLS:C1456255","medgen:1843467","ICD10:N81.84","ICD9:618.83"],"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:0001329","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"accommodative spasm","equivalent_identifiers":["MONDO:0001329","DOID:11637","UMLS:C0152196","MEDDRA:10000392","MEDDRA:10041393","SNOMEDCT:30069002","medgen:508923","ICD10:H52.53","ICD9:367.53"],"information_content":100.0}
{"id":"MONDO:0001330","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"presbyopia","equivalent_identifiers":["MONDO:0001330","DOID:11638","UMLS:C0033075","MESH:D011305","MEDDRA:10036628","SNOMEDCT:41256004","medgen:10912","icd11.foundation:22794400","ICD10:H52.4","ICD9:367.4"],"information_content":100.0}
{"id":"MONDO:0001332","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"palindromic rheumatism","equivalent_identifiers":["MONDO:0001332","DOID:1166","UMLS:C0085574","UMLS:C0158178","MESH:C538103","MEDDRA:10033534","MEDDRA:10033542","MEDDRA:10033544","SNOMEDCT:202457009","SNOMEDCT:50442003","medgen:39080","icd11.foundation:494875651","ICD10:M12.3","ICD9:719.3","ICD9:719.31"],"information_content":100.0}
{"id":"MONDO:0001336","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hyperlipidemia","equivalent_identifiers":["MONDO:0001336","DOID:1168","UMLS:C0700623","SNOMEDCT:238038003","medgen:675194","ICD10:E78.5"],"information_content":80.9}
{"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:0001340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heart cancer","equivalent_identifiers":["MONDO:0001340","DOID:117","UMLS:C0153500","MESH:D006338","MEDDRA:10007589","MEDDRA:10025543","MEDDRA:10025961","MEDDRA:10061025","NCIT:C3548","SNOMEDCT:363435002","medgen:57787","ICD9:164.1"],"information_content":78.3}
{"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":"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: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":"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":"MONDO:0001361","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spontaneous ocular nystagmus","equivalent_identifiers":["MONDO:0001361","DOID:11771","UMLS:C0271384","MEDDRA:10047539","SNOMEDCT:45339001","medgen:75748","ICD10:H55.03","ICD9:379.53"],"information_content":100.0}
{"id":"MONDO:0001364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"regular astigmatism","equivalent_identifiers":["MONDO:0001364","DOID:11781","UMLS:C0152193","MEDDRA:10038287","SNOMEDCT:68905002","medgen:508921","icd11.foundation:879600754","ICD10:H52.22","ICD9:367.21"],"information_content":100.0}
{"id":"MONDO:0001366","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"splenic sequestration","equivalent_identifiers":["MONDO:0001366","DOID:11786","UMLS:C1260402","MEDDRA:10063715","medgen:1843463","ICD9:289.52"],"information_content":100.0}
{"id":"MONDO:0001369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic laryngitis","equivalent_identifiers":["MONDO:0001369","DOID:11797","UMLS:C0155836","MEDDRA:10008940","MEDDRA:10023877","MEDDRA:10023878","NCIT:C26975","SNOMEDCT:29951006","medgen:102342","icd11.foundation:2009723608","ICD10:J37.0","ICD9:476.0"],"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":"MONDO:0001371","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"protein-energy malnutrition","equivalent_identifiers":["MONDO:0001371","DOID:11801","EFO:0009563","UMLS:C0033677","MESH:D011502","MEDDRA:10026716","MEDDRA:10037007","MEDDRA:10037027","MEDDRA:10046117","NCIT:C34952","SNOMEDCT:238107002","medgen:19521","ICD10:E46","ICD9:263.9"],"information_content":90.9}
{"id":"MONDO:0001377","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitreous syneresis","equivalent_identifiers":["MONDO:0001377","DOID:11816","UMLS:C0155366","MEDDRA:10047649","MEDDRA:10057367","SNOMEDCT:247090008","SNOMEDCT:60189009","medgen:509938","ICD10:H43.81","ICD9:379.21"],"information_content":76.4}
{"id":"MONDO:0001382","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatorenal syndrome","equivalent_identifiers":["MONDO:0001382","DOID:11823","UMLS:C0019212","MESH:D006530","MEDDRA:10016148","MEDDRA:10019845","MEDDRA:10019846","MEDDRA:10042815","NCIT:C113400","SNOMEDCT:51292008","medgen:9224","icd11.foundation:1015890899","ICD10:K76.7","ICD9:572.4"],"information_content":100.0}
{"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:0001385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cortical blindness","equivalent_identifiers":["MONDO:0001385","DOID:11831","UMLS:C0155320","MESH:D019575","MEDDRA:10005177","MEDDRA:10011165","NCIT:C118707","SNOMEDCT:68574006","medgen:57834","ICD10:H47.61","ICD9:377.75"],"information_content":100.0}
{"id":"MONDO:0001386","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"visual epilepsy","equivalent_identifiers":["MONDO:0001386","DOID:11832","UMLS:C0270824","MESH:D012640","NCIT:C3980","SNOMEDCT:39194005","medgen:75723"],"information_content":92.8}
{"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:0001390","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient refractive change","equivalent_identifiers":["MONDO:0001390","DOID:11850","UMLS:C0155000","MEDDRA:10044400","SNOMEDCT:81519008","medgen:509757","icd11.foundation:416871389","ICD9:367.81"],"information_content":100.0}
{"id":"MONDO:0001391","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"indeterminate leprosy","equivalent_identifiers":["MONDO:0001391","DOID:11851","UMLS:C0021192","MEDDRA:10021700","MEDDRA:10021701","SNOMEDCT:14386001","medgen:507841","icd11.foundation:2010059430","ICD10:A30.0","ICD9:030.2"],"information_content":100.0}
{"id":"MONDO:0001392","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monocular exotropia","equivalent_identifiers":["MONDO:0001392","DOID:11853","UMLS:C0152206","MEDDRA:10027872","SNOMEDCT:5725006","medgen:57752","icd11.foundation:1732547896","ICD10:H50.11","ICD9:378.11"],"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:0001398","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ureter benign neoplasm","equivalent_identifiers":["MONDO:0001398","DOID:11885","UMLS:C0154016","MEDDRA:10004418","MEDDRA:10004468","NCIT:C3617","SNOMEDCT:92464009","medgen:102303"],"information_content":88.2}
{"id":"MONDO:0001402","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vaginal cancer","equivalent_identifiers":["MONDO:0001402","DOID:119","UMLS:C0042237","MESH:D014625","MEDDRA:10007120","MEDDRA:10026620","MEDDRA:10046885","MEDDRA:10046888","MEDDRA:10046896","MEDDRA:10046925","NCIT:C7410","SNOMEDCT:363445000","medgen:12040","ICD10:C52","ICD9:184.0"],"information_content":71.2}
{"id":"MONDO:0001405","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tinea cruris","equivalent_identifiers":["MONDO:0001405","DOID:11917","UMLS:C0011638","UMLS:C1384589","MESH:D000084002","MEDDRA:10012509","MEDDRA:10018739","MEDDRA:10039187","MEDDRA:10043868","MEDDRA:10064901","MEDDRA:10087964","NCIT:C34535","SNOMEDCT:399029005","medgen:3769","ICD9:110.3"],"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:0001411","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"synostosis","equivalent_identifiers":["MONDO:0001411","DOID:11971","UMLS:C0039093","MESH:D013580","medgen:11689"],"information_content":67.6}
{"id":"MONDO:0001412","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conjunctival concretion","equivalent_identifiers":["MONDO:0001412","DOID:11988","UMLS:C0155162","MEDDRA:10059789","SNOMEDCT:13706005","medgen:509822","ICD10:H11.12","ICD9:372.54"],"information_content":100.0}
{"id":"MONDO:0001413","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ulceroglandular tularemia","equivalent_identifiers":["MONDO:0001413","DOID:11990","UMLS:C0152941","MEDDRA:10045371","MEDDRA:10060428","SNOMEDCT:37722001","medgen:509087","ICD10:A21.0","ICD9:021.0"],"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: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:0001427","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dieulafoy lesion","equivalent_identifiers":["MONDO:0001427","DOID:12070","UMLS:C0341217","UMLS:C1135229","SNOMEDCT:109558001","medgen:574250","ICD10:K31.82","ICD9:537.84"],"information_content":100.0}
{"id":"MONDO:0001428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pylorospasm","equivalent_identifiers":["MONDO:0001428","DOID:12072","UMLS:C0152163","MEDDRA:10037628","MEDDRA:10041401","SNOMEDCT:335002","medgen:508908","ICD9:537.81"],"information_content":100.0}
{"id":"MONDO:0001433","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vaginal disease","equivalent_identifiers":["MONDO:0001433","DOID:121","UMLS:C0042251","MESH:D014623","MEDDRA:10046903","MEDDRA:10061402","NCIT:C26910","SNOMEDCT:25658005","medgen:12042"],"information_content":68.4}
{"id":"MONDO:0001434","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory spondylopathy","equivalent_identifiers":["MONDO:0001434","DOID:12105","UMLS:C0021396","UMLS:C0949690","MESH:D025241","MEDDRA:10058338","SNOMEDCT:202649003","SNOMEDCT:371082009","SNOMEDCT:784332006","medgen:215416","ICD9:720.81"],"information_content":100.0}
{"id":"MONDO:0001435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bullous retinoschisis","equivalent_identifiers":["MONDO:0001435","DOID:12108","UMLS:C0344289","MEDDRA:10006572","SNOMEDCT:65545003","medgen:576202","ICD9:361.12"],"information_content":100.0}
{"id":"MONDO:0001436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemosiderosis","equivalent_identifiers":["MONDO:0001436","DOID:12119","UMLS:C0019114","MESH:D006486","MEDDRA:10019024","MEDDRA:10019613","NCIT:C82892","SNOMEDCT:39011001","medgen:42409"],"information_content":80.9}
{"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":"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":"MONDO:0001442","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysthymic disorder","equivalent_identifiers":["MONDO:0001442","DOID:12139","EFO:0008623","UMLS:C0013415","MESH:D019263","MEDDRA:10013981","MEDDRA:10013982","NCIT:C34562","SNOMEDCT:78667006","medgen:8517","icd11.foundation:810797047","ICD10:F34.1","ICD9:300.4"],"information_content":100.0}
{"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":"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":"MONDO:0001446","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"low compliance bladder","equivalent_identifiers":["MONDO:0001446","DOID:12144","UMLS:C0489967","MEDDRA:10024894","SNOMEDCT:9009001","medgen:635444","ICD9:596.52"],"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":"MONDO:0001449","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphocytic choriomeningitis","equivalent_identifiers":["MONDO:0001449","DOID:12155","UMLS:C0024266","MESH:D008216","MEDDRA:10008761","MEDDRA:10024047","MEDDRA:10025266","MEDDRA:10025267","MEDDRA:10027219","MEDDRA:10070611","NCIT:C174114","SNOMEDCT:276064006","SNOMEDCT:276817007","SNOMEDCT:397961002","SNOMEDCT:398136003","SNOMEDCT:721781004","medgen:44220","icd11.foundation:307264938","ICD10:A87.2"],"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":"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:0001458","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ulnar nerve lesion","equivalent_identifiers":["MONDO:0001458","DOID:12168","UMLS:C1288279","MEDDRA:10024252","MEDDRA:10045379","SNOMEDCT:367475009","medgen:710723","ICD10:G56.2","ICD9:354.2"],"information_content":100.0}
{"id":"MONDO:0001461","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tinea corporis","equivalent_identifiers":["MONDO:0001461","DOID:12179","UMLS:C0040252","UMLS:C0546826","MEDDRA:10005913","MEDDRA:10012506","MEDDRA:10012515","MEDDRA:10039185","MEDDRA:10043867","SNOMEDCT:84849002","medgen:508197","ICD9:110.5"],"information_content":95.4}
{"id":"MONDO:0001464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sigmoid colon cancer","equivalent_identifiers":["MONDO:0001464","DOID:12192","UMLS:C0153436","MEDDRA:10026456","NCIT:C194080","SNOMEDCT:363410008","medgen:509292","ICD10:C18.7","ICD9:153.3"],"information_content":92.8}
{"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":"MONDO:0001468","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Plica syndrome","equivalent_identifiers":["MONDO:0001468","DOID:12225","UMLS:C0410485","UMLS:C0554601","UMLS:C0878705","MEDDRA:10066850","MEDDRA:10089294","SNOMEDCT:240171001","SNOMEDCT:268005002","medgen:640475","ICD10:M67.5","ICD9:727.83"],"information_content":100.0}
{"id":"MONDO:0001472","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular lymphoma","equivalent_identifiers":["MONDO:0001472","DOID:12253","UMLS:C0349644","NCIT:C6810","SNOMEDCT:277664004","medgen:138110"],"information_content":88.2}
{"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: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: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:0001479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous diphtheria","equivalent_identifiers":["MONDO:0001479","DOID:12275","EFO:1000683","UMLS:C0012555","MEDDRA:10011661","NCIT:C34544","SNOMEDCT:18901009","medgen:41599","icd11.foundation:618920860","ICD10:A36.3","ICD9:032.85"],"information_content":100.0}
{"id":"MONDO:0001481","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"femoral vein thrombophlebitis","equivalent_identifiers":["MONDO:0001481","DOID:12282","UMLS:C0265066","SNOMEDCT:1748006","SNOMEDCT:195410000","medgen:539052","ICD10:I80.1","ICD9:451.11"],"information_content":100.0}
{"id":"MONDO:0001482","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular leukemia","equivalent_identifiers":["MONDO:0001482","DOID:12286","UMLS:C1336711","NCIT:C9277","medgen:234941"],"information_content":100.0}
{"id":"MONDO:0001484","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paranoid schizophrenia","equivalent_identifiers":["MONDO:0001484","DOID:1229","UMLS:C0036349","UMLS:C0270398","MESH:D012563","MEDDRA:10033872","MEDDRA:10033877","MEDDRA:10033878","MEDDRA:10033883","MEDDRA:10039639","NCIT:C35006","SNOMEDCT:31658008","SNOMEDCT:64905009","medgen:20664","ICD10:F20.0","ICD9:295.3","ICD9:295.32"],"information_content":100.0}
{"id":"MONDO:0001485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical depressive disorder","equivalent_identifiers":["MONDO:0001485","DOID:12294","UMLS:C0154437","MEDDRA:10003748","SNOMEDCT:191659001","medgen:509593","ICD10:F32.89","ICD9:296.82"],"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":"MONDO:0001491","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cough variant asthma","equivalent_identifiers":["MONDO:0001491","DOID:12323","UMLS:C0694548","MESH:D000096823","MEDDRA:10063076","NCIT:C197887","SNOMEDCT:409663006","medgen:675053","icd11.foundation:1466639844","ICD10:J45.991","ICD9:493.82"],"information_content":100.0}
{"id":"MONDO:0001495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hematocele","equivalent_identifiers":["MONDO:0001495","DOID:12332","UMLS:C0018931","UMLS:C1456400","MESH:D006398","MEDDRA:10018833","MEDDRA:10060542","SNOMEDCT:103620004","SNOMEDCT:66259004","medgen:42386"],"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:0001501","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retroperitoneal sarcoma","equivalent_identifiers":["MONDO:0001501","DOID:12341","UMLS:C0585129","MEDDRA:10077289","NCIT:C4832","SNOMEDCT:307219002","medgen:107937"],"information_content":81.3}
{"id":"MONDO:0001502","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retroperitoneum carcinoma","equivalent_identifiers":["MONDO:0001502","DOID:12342","UMLS:C0948749","MEDDRA:10051974","NCIT:C7352","medgen:215301"],"information_content":75.2}
{"id":"MONDO:0001504","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetishism","equivalent_identifiers":["MONDO:0001504","DOID:1235","UMLS:C0015957","MESH:D005329","MEDDRA:10016530","MEDDRA:10016531","NCIT:C94353","SNOMEDCT:59174009","medgen:8827","ICD10:F65.0","ICD9:302.81"],"information_content":100.0}
{"id":"MONDO:0001507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"viral labyrinthitis","equivalent_identifiers":["MONDO:0001507","DOID:12357","UMLS:C0155508","MEDDRA:10047466","SNOMEDCT:409711008","medgen:509997","ICD9:386.35"],"information_content":100.0}
{"id":"MONDO:0001508","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"patulous eustachian tube","equivalent_identifiers":["MONDO:0001508","DOID:12358","UMLS:C0155434","MEDDRA:10015546","MEDDRA:10034163","SNOMEDCT:30280005","medgen:509965","icd11.foundation:1112306780","ICD10:H69.0","ICD9:381.7"],"information_content":100.0}
{"id":"MONDO:0001513","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulsating exophthalmos","equivalent_identifiers":["MONDO:0001513","DOID:12364","UMLS:C0155271","MEDDRA:10037465","SNOMEDCT:2284002","medgen:509887","icd11.foundation:1825207679","ICD10:H05.26","ICD9:376.35"],"information_content":100.0}
{"id":"MONDO:0001514","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Urethrocele","equivalent_identifiers":["MONDO:0001514","DOID:12369","UMLS:C0238502","MEDDRA:10067784","SNOMEDCT:12068006","medgen:451007","ICD10:N81.0","ICD9:618.03","HP:0100821"],"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: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":"MONDO:0001517","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysentery","equivalent_identifiers":["MONDO:0001517","DOID:12384","EFO:1001869","UMLS:C0013369","MESH:D004403","MEDDRA:10012742","MEDDRA:10013898","MEDDRA:10021907","MEDDRA:10021908","MEDDRA:10051402","MEDDRA:10055411","SNOMEDCT:111939009","SNOMEDCT:19213003","medgen:3934","ICD9:009.2"],"information_content":64.3}
{"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:0001520","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kleptomania","equivalent_identifiers":["MONDO:0001520","DOID:12400","UMLS:C0022734","MEDDRA:10023461","NCIT:C94333","SNOMEDCT:69361009","medgen:5974","icd11.foundation:804604349","ICD10:F63.2","ICD9:312.32","HP:5200337"],"information_content":100.0}
{"id":"MONDO:0001521","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intermittent explosive disorder","equivalent_identifiers":["MONDO:0001521","DOID:12401","UMLS:C0021776","UMLS:C0152183","MEDDRA:10015705","MEDDRA:10022568","NCIT:C94332","SNOMEDCT:231527003","SNOMEDCT:40987004","medgen:7116","icd11.foundation:295017661","ICD10:F63.81","ICD9:301.3","ICD9:312.34"],"information_content":100.0}
{"id":"MONDO:0001522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyromania","equivalent_identifiers":["MONDO:0001522","DOID:12402","UMLS:C0016142","MESH:D005391","MEDDRA:10037674","MEDDRA:10040440","NCIT:C94334","SNOMEDCT:248015004","SNOMEDCT:600009","medgen:42028","icd11.foundation:1532500290","ICD10:F63.1","ICD9:312.33","HP:5200338"],"information_content":100.0}
{"id":"MONDO:0001527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conjugate gaze palsy","equivalent_identifiers":["MONDO:0001527","DOID:12445","UMLS:C0702143","MEDDRA:10033562","SNOMEDCT:1534008","medgen:675273","ICD9:378.81"],"information_content":100.0}
{"id":"MONDO:0001528","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulva cancer","equivalent_identifiers":["MONDO:0001528","DOID:1245","UMLS:C0375071","MESH:D014846","MEDDRA:10026648","MEDDRA:10047741","MEDDRA:10047743","MEDDRA:10047777","NCIT:C7502","SNOMEDCT:363367000","medgen:91196","ICD10:C51","ICD9:184.4"],"information_content":69.1}
{"id":"MONDO:0001532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"capillariasis","equivalent_identifiers":["MONDO:0001532","DOID:12474","UMLS:C0006897","MEDDRA:10007187","SNOMEDCT:52979002","medgen:507518","icd11.foundation:839653996","ICD10:B81.1","ICD9:127.5"],"information_content":100.0}
{"id":"MONDO:0001534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ocular hyperemia","equivalent_identifiers":["MONDO:0001534","DOID:1248","UMLS:C0155169","MEDDRA:10015942","MEDDRA:10020567","MEDDRA:10030041","MEDDRA:10030042","MEDDRA:10060481","SNOMEDCT:359610006","SNOMEDCT:781682005","medgen:509827"],"information_content":100.0}
{"id":"MONDO:0001535","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vagus nerve disorder","equivalent_identifiers":["MONDO:0001535","DOID:12491","UMLS:C0152179","MESH:D020421","MEDDRA:10046966","MEDDRA:10046967","MEDDRA:10061403","NCIT:C27591","SNOMEDCT:73765005","medgen:101824","ICD10:G52.2","ICD9:352.3"],"information_content":90.9}
{"id":"MONDO:0001538","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal ischemia","equivalent_identifiers":["MONDO:0001538","DOID:12510","UMLS:C0162291","MEDDRA:10023036","MEDDRA:10038871","MEDDRA:10038872","MEDDRA:10055754","SNOMEDCT:26468004","medgen:102372","ICD10:H35.82","ICD9:362.84"],"information_content":95.4}
{"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:0001546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypermobility of coccyx","equivalent_identifiers":["MONDO:0001546","DOID:12537","UMLS:C0158295","MEDDRA:10020676","SNOMEDCT:202809009","medgen:510502","icd11.foundation:588794167","ICD9:724.71"],"information_content":100.0}
{"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: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":"MONDO:0001555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal thyrotoxicosis","equivalent_identifiers":["MONDO:0001555","DOID:12573","UMLS:C0158983","MEDDRA:10028976","NCIT:C114906","SNOMEDCT:13795004","medgen:510684","ICD10:P72.1","ICD9:775.3"],"information_content":100.0}
{"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:0001558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Potter sequence","equivalent_identifiers":["MONDO:0001558","DOID:12594","UMLS:C0178426","MEDDRA:10036462","NCIT:C40435","SNOMEDCT:41962002","medgen:472617","ICD10:Q60.6"],"information_content":95.4}
{"id":"MONDO:0001559","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"perineocele","equivalent_identifiers":["MONDO:0001559","DOID:12637","UMLS:C1456251","MEDDRA:10087765","MEDDRA:10087770","medgen:1843478","ICD10:N81.81","ICD9:618.05"],"information_content":100.0}
{"id":"MONDO:0001560","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypertrophic pyloric stenosis","equivalent_identifiers":["MONDO:0001560","DOID:12638","EFO:0004707","MESH:D046248","NCIT:C98952","SNOMEDCT:48644003","ICD10:Q40.0","ICD9:750.5"],"information_content":85.5}
{"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":"MONDO:0001564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"binocular vision disease","equivalent_identifiers":["MONDO:0001564","DOID:12667","EFO:0009535","UMLS:C0005461","MEDDRA:10004718","NCIT:C34422","SNOMEDCT:83275001","medgen:571","ICD10:H53.30","ICD9:368.30"],"information_content":95.4}
{"id":"MONDO:0001565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"abnormal retinal correspondence","equivalent_identifiers":["MONDO:0001565","DOID:12668","UMLS:C0155010","MEDDRA:10000172","SNOMEDCT:79195003","medgen:509763","icd11.foundation:119512999","ICD10:H53.31","ICD9:368.34"],"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":"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:0001568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mixed receptive-expressive language disorder","equivalent_identifiers":["MONDO:0001568","DOID:12685","UMLS:C0236827","MEDDRA:10027778","NCIT:C92563","SNOMEDCT:25766007","medgen:452301","ICD10:F80.2","ICD9:315.32"],"information_content":100.0}
{"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: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:0001572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leiomyoma","equivalent_identifiers":["MONDO:0001572","DOID:127","UMLS:C0023267","MESH:D007889","MEDDRA:10016628","MEDDRA:10024184","MEDDRA:10024185","NCIT:C3157","SNOMEDCT:1162890002","SNOMEDCT:1187125003","SNOMEDCT:146801000119103","medgen:9710"],"information_content":70.8}
{"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":"MONDO:0001577","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"respiratory syncytial virus infectious disease","equivalent_identifiers":["MONDO:0001577","DOID:1273","EFO:1001413","UMLS:C0035235","MESH:D018357","MEDDRA:10052200","MEDDRA:10061603","NCIT:C3354","SNOMEDCT:55735004","medgen:48424"],"information_content":95.4}
{"id":"MONDO:0001579","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal staphyloma","equivalent_identifiers":["MONDO:0001579","DOID:12753","UMLS:C0152440","MEDDRA:10011048","SNOMEDCT:52476003","medgen:509034","icd11.foundation:212928655","ICD10:H18.72","ICD9:371.73"],"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:0001583","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetic polyneuropathy","equivalent_identifiers":["MONDO:0001583","DOID:12785","UMLS:C0271680","MEDDRA:10012685","MEDDRA:10036113","SNOMEDCT:49455004","medgen:75763","icd11.foundation:1837670870","ICD9:357.2"],"information_content":100.0}
{"id":"MONDO:0001585","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hallucinogen abuse","equivalent_identifiers":["MONDO:0001585","DOID:12797","UMLS:C0018526","MEDDRA:10019080","SNOMEDCT:74851005","medgen:507771","ICD10:F16.1","ICD9:305.3"],"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: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:0001594","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Achilles bursitis","equivalent_identifiers":["MONDO:0001594","DOID:12857","UMLS:C0149846","MEDDRA:10000443","MEDDRA:10065541","MEDDRA:10083620","SNOMEDCT:221695002","medgen:508442","icd11.foundation:426746156","ICD10:M76.6"],"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":"MONDO:0001596","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypochondriasis","equivalent_identifiers":["MONDO:0001596","DOID:12883","UMLS:C0020604","MESH:D006998","MEDDRA:10020965","NCIT:C9493","SNOMEDCT:18193002","medgen:9382","icd11.foundation:675329566","ICD10:F45.21","ICD9:300.7"],"information_content":100.0}
{"id":"MONDO:0001597","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"submandibular gland disorder","equivalent_identifiers":["MONDO:0001597","DOID:12897","UMLS:C0038557","MESH:D013364","medgen:52535"],"information_content":86.3}
{"id":"MONDO:0001600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ranula","equivalent_identifiers":["MONDO:0001600","DOID:12904","UMLS:C0026686","UMLS:C2242813","MESH:D011900","MEDDRA:10028079","MEDDRA:10037838","MEDDRA:10039416","MEDDRA:10051499","MEDDRA:10060870","MEDDRA:10060871","NCIT:C127828","NCIT:C27649","SNOMEDCT:14919007","SNOMEDCT:69825009","medgen:10117","icd11.foundation:48444833","ICD10:K11.6","ICD9:527.6","HP:0030706"],"information_content":100.0}
{"id":"MONDO:0001601","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ovale malaria","equivalent_identifiers":["MONDO:0001601","DOID:12919","UMLS:C0152072","MEDDRA:10033117","SNOMEDCT:19341001","medgen:508870","ICD10:B53.0","ICD9:084.3"],"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:0001606","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central nervous system leukemia","equivalent_identifiers":["MONDO:0001606","DOID:12969","UMLS:C1332884","MEDDRA:10066231","MEDDRA:10067299","NCIT:C5440","medgen:234102"],"information_content":92.8}
{"id":"MONDO:0001615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"shipyard eye","equivalent_identifiers":["MONDO:0001615","DOID:13014","UMLS:C0014493","MEDDRA:10014975","NCIT:C34590","SNOMEDCT:60548004","medgen:4500","icd11.foundation:972253332","ICD10:B30.0","ICD9:077.1"],"information_content":100.0}
{"id":"MONDO:0001618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"balanoposthitis","equivalent_identifiers":["MONDO:0001618","DOID:13031","UMLS:C0004691","MEDDRA:10004078","MEDDRA:10087511","SNOMEDCT:46090001","medgen:507475","icd11.foundation:1742248014","ICD10:N47.6","ICD9:607.1"],"information_content":95.4}
{"id":"MONDO:0001620","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"louse-borne relapsing fever","equivalent_identifiers":["MONDO:0001620","DOID:13035","UMLS:C0152061","MEDDRA:10006037","MEDDRA:10024889","MEDDRA:10038301","NCIT:C128426","SNOMEDCT:14683004","medgen:508863","icd11.foundation:1379934125","ICD10:A68.0","ICD9:087.0"],"information_content":100.0}
{"id":"MONDO:0001621","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tick-borne relapsing fever","equivalent_identifiers":["MONDO:0001621","DOID:13036","UMLS:C0035022","MEDDRA:10038302","MEDDRA:10043843","NCIT:C34976","SNOMEDCT:10301003","medgen:20515","icd11.foundation:923521593","ICD10:A68.1","ICD9:087.1"],"information_content":100.0}
{"id":"MONDO:0001626","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"traumatic glaucoma","equivalent_identifiers":["MONDO:0001626","DOID:13060","UMLS:C0339594","MEDDRA:10018313","MEDDRA:10018330","SNOMEDCT:68241007","medgen:573251","ICD9:365.65"],"information_content":100.0}
{"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":"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":"MONDO:0001632","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intracranial arteriosclerosis","equivalent_identifiers":["MONDO:0001632","DOID:13097","UMLS:C0007771","MESH:D002537","medgen:3319"],"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:0001634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bladder leiomyoma","equivalent_identifiers":["MONDO:0001634","DOID:13109","UMLS:C1332560","MEDDRA:10066276","NCIT:C6178","medgen:272371"],"information_content":95.4}
{"id":"MONDO:0001641","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"severe pre-eclampsia","equivalent_identifiers":["MONDO:0001641","DOID:13129","UMLS:C0156669","UMLS:C0341950","NCIT:C112843","SNOMEDCT:46764007","medgen:574734","icd11.foundation:479404771","ICD9:642.50"],"information_content":95.4}
{"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:0001646","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign secondary hypertension","equivalent_identifiers":["MONDO:0001646","DOID:13143","UMLS:C0155620","MEDDRA:10004455","MEDDRA:10039837","NCIT:C3658","SNOMEDCT:194785008","medgen:57610","ICD9:405.1"],"information_content":95.4}
{"id":"MONDO:0001647","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign renovascular hypertension","equivalent_identifiers":["MONDO:0001647","DOID:13145","UMLS:C0155621","MEDDRA:10004450","medgen:1843496","icd11.foundation:1396824741","ICD9:405.11"],"information_content":100.0}
{"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:0001656","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"megaesophagus","equivalent_identifiers":["MONDO:0001656","DOID:13186","UMLS:C0025164","MEDDRA:10052061","MEDDRA:10056100","NCIT:C34811","SNOMEDCT:70667005","medgen:6286"],"information_content":100.0}
{"id":"MONDO:0001657","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain cancer","equivalent_identifiers":["MONDO:0001657","DOID:1319","UMLS:C0153633","UMLS:C0220624","UMLS:C0750979","UMLS:C1334557","MESH:D001932","MEDDRA:10006131","MEDDRA:10025539","MEDDRA:10025783","MEDDRA:10025785","NCIT:C3568","NCIT:C5115","NCIT:C7710","SNOMEDCT:428061005","SNOMEDCT:93727008","medgen:57796","ICD10:C71","ICD9:191","ICD9:239.6"],"information_content":64.1}
{"id":"MONDO:0001660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proliferative diabetic retinopathy","equivalent_identifiers":["MONDO:0001660","DOID:13207","EFO:0009322","UMLS:C0154830","MEDDRA:10036857","NCIT:C84457","SNOMEDCT:59276001","medgen:56347","icd11.foundation:348602398","ICD9:362.02"],"information_content":100.0}
{"id":"MONDO:0001661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"background diabetic retinopathy","equivalent_identifiers":["MONDO:0001661","DOID:13208","EFO:0009760","UMLS:C0004606","MEDDRA:10003995","MEDDRA:10054109","NCIT:C35668","SNOMEDCT:390834004","medgen:2531","ICD9:362.03"],"information_content":95.4}
{"id":"MONDO:0001672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bronchus cancer","equivalent_identifiers":["MONDO:0001672","DOID:1325","UMLS:C0348343","UMLS:C1322284","NCIT:C156885","SNOMEDCT:363493006","medgen:730206","ICD10:C34","ICD9:162.9"],"information_content":85.5}
{"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":"MONDO:0001676","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythropoietic protoporphyria","equivalent_identifiers":["MONDO:0001676","DOID:13270","OMIM.PS:177000","orphanet:659681","UMLS:C0162568","MESH:D046351","MEDDRA:10015289","SNOMEDCT:51022005","medgen:56455","icd11.foundation:1642941362","ICD10:E80.0"],"information_content":89.4}
{"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:0001687","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetic cataract","equivalent_identifiers":["MONDO:0001687","DOID:13328","UMLS:C0011876","MEDDRA:10007749","MEDDRA:10012648","SNOMEDCT:43959009","medgen:507634","icd11.foundation:340836242","ICD9:366.41"],"information_content":100.0}
{"id":"MONDO:0001688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toxic optic neuropathy","equivalent_identifiers":["MONDO:0001688","DOID:13329","UMLS:C0155303","MESH:D000081028","MEDDRA:10044245","SNOMEDCT:26125006","medgen:509903","icd11.foundation:1481748859","ICD10:H46.3","ICD9:377.34"],"information_content":100.0}
{"id":"MONDO:0001692","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pedophilia","equivalent_identifiers":["MONDO:0001692","DOID:13351","UMLS:C0030764","MESH:D010378","MEDDRA:10033361","MEDDRA:10034217","NCIT:C94355","SNOMEDCT:84002002","medgen:18340","ICD10:F65.4","ICD9:302.2"],"information_content":100.0}
{"id":"MONDO:0001699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tinea manuum","equivalent_identifiers":["MONDO:0001699","DOID:13369","UMLS:C0153246","MESH:C000656824","MEDDRA:10012510","MEDDRA:10067197","MEDDRA:10073383","SNOMEDCT:48971001","medgen:509222","ICD10:B35.2","ICD9:110.2"],"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":"MONDO:0001701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastrointestinal anthrax","equivalent_identifiers":["MONDO:0001701","DOID:13386","UMLS:C0152945","MESH:C571911","MEDDRA:10017931","SNOMEDCT:111798006","medgen:102256","icd11.foundation:1800193089","ICD10:A22.2","ICD9:022.2"],"information_content":95.4}
{"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":"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:0001706","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral sarcoidosis","equivalent_identifiers":["MONDO:0001706","DOID:13403","UMLS:C0398676","MEDDRA:10008131","NCIT:C35441","SNOMEDCT:111936002","medgen:140767"],"information_content":100.0}
{"id":"MONDO:0001707","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiac sarcoidosis","equivalent_identifiers":["MONDO:0001707","DOID:13405","UMLS:C0392077","MEDDRA:10007604","MEDDRA:10019307","MEDDRA:10039488","NCIT:C35589","SNOMEDCT:75403004","medgen:140260"],"information_content":100.0}
{"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":"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:0001714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bejel","equivalent_identifiers":["MONDO:0001714","DOID:13431","UMLS:C0004945","MEDDRA:10083964","SNOMEDCT:240686008","medgen:2569"],"information_content":100.0}
{"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:0001725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"balanitis xerotica obliterans","equivalent_identifiers":["MONDO:0001725","DOID:13477","UMLS:C0152460","MESH:D052798","MEDDRA:10004077","MEDDRA:10068590","NCIT:C3523","SNOMEDCT:198033005","SNOMEDCT:700082001","medgen:57542","ICD9:607.81"],"information_content":95.4}
{"id":"MONDO:0001730","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urethral syndrome","equivalent_identifiers":["MONDO:0001730","DOID:13498","UMLS:C0156279","MEDDRA:10046477","MEDDRA:10046478","SNOMEDCT:31273004","medgen:510225","ICD10:N34.3","ICD9:597.81"],"information_content":100.0}
{"id":"MONDO:0001732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trigonitis","equivalent_identifiers":["MONDO:0001732","DOID:13507","UMLS:C1261278","MEDDRA:10044668","NCIT:C123175","SNOMEDCT:74445007","medgen:687797","icd11.foundation:1938116176","ICD10:N30.3","ICD9:595.3"],"information_content":100.0}
{"id":"MONDO:0001735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paranasal sinus disorder","equivalent_identifiers":["MONDO:0001735","DOID:1352","EFO:0009481","UMLS:C0030469","MESH:D010254","MEDDRA:10051829","MEDDRA:10062244","NCIT:C26843","SNOMEDCT:7393007","medgen:14608"],"information_content":70.3}
{"id":"MONDO:0001737","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tetanus neonatorum","equivalent_identifiers":["MONDO:0001737","DOID:13521","UMLS:C0343312","MEDDRA:10043378","NCIT:C116814","SNOMEDCT:43424001","medgen:575516","icd11.foundation:2085616610","ICD10:A33","ICD9:771.3"],"information_content":100.0}
{"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":"MONDO:0001742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"interval angle-closure glaucoma","equivalent_identifiers":["MONDO:0001742","DOID:13549","UMLS:C0154945","MEDDRA:10022560","SNOMEDCT:65460003","medgen:509734","ICD10:H40.23","ICD9:365.21"],"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":"MONDO:0001749","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cortical senile cataract","equivalent_identifiers":["MONDO:0001749","DOID:13574","UMLS:C0154980","MEDDRA:10011170","SNOMEDCT:78875003","medgen:509748","ICD9:366.15"],"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":"MONDO:0001752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alveolalgia","equivalent_identifiers":["MONDO:0001752","DOID:13585","UMLS:C0013240","UMLS:C0085784","MESH:D004368","MEDDRA:10001894","MEDDRA:10013787","MEDDRA:10013788","MEDDRA:10066995","SNOMEDCT:251331003","SNOMEDCT:61804006","medgen:3923","ICD10:M27.3","ICD9:526.5"],"information_content":100.0}
{"id":"MONDO:0001762","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dentine erosion","equivalent_identifiers":["MONDO:0001762","DOID:13629","UMLS:C1456162","medgen:1843465","ICD9:521.32"],"information_content":100.0}
{"id":"MONDO:0001774","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior scleritis","equivalent_identifiers":["MONDO:0001774","DOID:13676","UMLS:C0155357","MEDDRA:10036362","SNOMEDCT:267660007","medgen:509932","icd11.foundation:982348440","ICD10:H15.03","ICD9:379.07"],"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":"MONDO:0001780","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premature ejaculation","equivalent_identifiers":["MONDO:0001780","DOID:13709","EFO:0803321","UMLS:C0033038","MESH:D061686","MEDDRA:10014330","MEDDRA:10036596","MEDDRA:10036597","MEDDRA:10081554","NCIT:C94349","SNOMEDCT:44001008","medgen:452112","ICD10:F52.4","ICD9:302.75","HP:0012876"],"information_content":100.0}
{"id":"MONDO:0001782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mature cataract","equivalent_identifiers":["MONDO:0001782","DOID:13717","UMLS:C0152257","UMLS:C3665439","SNOMEDCT:193590000","SNOMEDCT:849000","medgen:784053"],"information_content":100.0}
{"id":"MONDO:0001783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometrial stromal nodule","equivalent_identifiers":["MONDO:0001783","DOID:1373","EFO:1000241","UMLS:C0334485","UMLS:C4284031","NCIT:C4262","SNOMEDCT:70971005","SNOMEDCT:721571001","medgen:90790"],"information_content":88.2}
{"id":"MONDO:0001786","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uterine inflammatory disease","equivalent_identifiers":["MONDO:0001786","DOID:13736","EFO:0009572","UMLS:C0269047","MEDDRA:10045963","SNOMEDCT:28783002","medgen:541692","ICD10:N71.9","ICD9:615.9"],"information_content":89.4}
{"id":"MONDO:0001790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal cord lipoma","equivalent_identifiers":["MONDO:0001790","DOID:13743","orphanet:645276","UMLS:C0347446","MEDDRA:10064898","NCIT:C4619","SNOMEDCT:189017000","medgen:91131"],"information_content":83.6}
{"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":"MONDO:0001794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pthirus pubis infestation","equivalent_identifiers":["MONDO:0001794","DOID:13760","UMLS:C0030759","UMLS:C0277352","MEDDRA:10034212","MEDDRA:10037286","NCIT:C35777","SNOMEDCT:19690006","SNOMEDCT:71011005","medgen:10616","ICD10:B85.3","ICD9:132.2"],"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:0001797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chancroid","equivalent_identifiers":["MONDO:0001797","DOID:13778","UMLS:C0007947","MESH:D002602","MEDDRA:10008392","MEDDRA:10018944","MEDDRA:10018945","MEDDRA:10060620","MEDDRA:10060621","SNOMEDCT:266143009","medgen:872","icd11.foundation:1357024926","ICD10:A57","ICD9:099.0"],"information_content":100.0}
{"id":"MONDO:0001798","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypermobility syndrome","equivalent_identifiers":["MONDO:0001798","DOID:13781","UMLS:C0152093","MEDDRA:10020677","MEDDRA:10087557","SNOMEDCT:85551004","medgen:508885","ICD10:M35.7","ICD9:728.5"],"information_content":100.0}
{"id":"MONDO:0001802","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute tympanitis","equivalent_identifiers":["MONDO:0001802","DOID:13790","UMLS:C0155460","MEDDRA:10000936","MEDDRA:10086670","SNOMEDCT:297009","medgen:509976","ICD10:H73.0","ICD9:384.00"],"information_content":100.0}
{"id":"MONDO:0001809","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adhesions of uterus","equivalent_identifiers":["MONDO:0001809","DOID:13812","UMLS:C0241593","UMLS:C1704274","MEDDRA:10022821","MEDDRA:10046826","MEDDRA:10074333","SNOMEDCT:301789000","SNOMEDCT:361115000","medgen:537073"],"information_content":100.0}
{"id":"MONDO:0001817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute closed-angle glaucoma","equivalent_identifiers":["MONDO:0001817","DOID:13862","UMLS:C0154946","MEDDRA:10000673","MEDDRA:10000674","MEDDRA:10002501","SNOMEDCT:30041005","medgen:509735","ICD10:H40.21","ICD9:365.22"],"information_content":100.0}
{"id":"MONDO:0001818","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"facial neuralgia","equivalent_identifiers":["MONDO:0001818","DOID:13865","EFO:0009380","UMLS:C0015467","MESH:D005156","MEDDRA:10016057","MEDDRA:10029225","MEDDRA:10061594","SNOMEDCT:4151000119102","medgen:5099"],"information_content":100.0}
{"id":"MONDO:0001821","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypoactive sexual desire disorder","equivalent_identifiers":["MONDO:0001821","DOID:13868","UMLS:C0020594","MEDDRA:10020933","NCIT:C94337","SNOMEDCT:270903007","medgen:43792","ICD10:F52.0","ICD9:302.71"],"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: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":"MONDO:0001825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"squamous papilloma","equivalent_identifiers":["MONDO:0001825","DOID:139","EFO:1001970","UMLS:C0205874","MEDDRA:10081692","NCIT:C3712","SNOMEDCT:63451008","medgen:61470","HP:0031021"],"information_content":79.9}
{"id":"MONDO:0001827","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"white piedra","equivalent_identifiers":["MONDO:0001827","DOID:13902","UMLS:C0040249","MEDDRA:10043865","MEDDRA:10080473","SNOMEDCT:35586003","medgen:452113","icd11.foundation:303653536","ICD10:B36.2","ICD9:111.2"],"information_content":100.0}
{"id":"MONDO:0001828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired color blindness","equivalent_identifiers":["MONDO:0001828","DOID:13912","UMLS:C0155018","MEDDRA:10010051","MEDDRA:10055513","NCIT:C118712","SNOMEDCT:71676008","medgen:57828","ICD10:H53.52","ICD9:368.55"],"information_content":100.0}
{"id":"MONDO:0001830","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"somatization disorder","equivalent_identifiers":["MONDO:0001830","DOID:13918","UMLS:C0520482","MEDDRA:10006368","MEDDRA:10006369","MEDDRA:10041318","MEDDRA:10041319","SNOMEDCT:397795007","SNOMEDCT:397826007","SNOMEDCT:397923000","medgen:99241","ICD10:F45.0","ICD9:300.81"],"information_content":100.0}
{"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: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: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":"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:0001852","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"small intestine lymphoma","equivalent_identifiers":["MONDO:0001852","DOID:13996","UMLS:C0278805","NCIT:C4007","SNOMEDCT:449074003","medgen:82986"],"information_content":80.6}
{"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":"MONDO:0001856","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"splenic artery aneurysm","equivalent_identifiers":["MONDO:0001856","DOID:14006","UMLS:C0155747","MEDDRA:10002358","MEDDRA:10041645","SNOMEDCT:70405009","medgen:510069","ICD9:442.83"],"information_content":100.0}
{"id":"MONDO:0001858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Tietze syndrome","equivalent_identifiers":["MONDO:0001858","DOID:14021","UMLS:C0040213","UMLS:C5238797","MESH:D013991","MEDDRA:10043851","MEDDRA:10043852","MEDDRA:10063529","MEDDRA:10067349","MEDDRA:10067358","NCIT:C168333","SNOMEDCT:30128009","medgen:52753","ICD10:M94.0","ICD9:733.6"],"information_content":100.0}
{"id":"MONDO:0001859","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"algoneurodystrophy","equivalent_identifiers":["MONDO:0001859","DOID:14022","UMLS:C0205930","MEDDRA:10001665","medgen:526108","ICD10:M89.0","ICD9:733.7"],"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":"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":"MONDO:0001870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute poststreptococcal glomerulonephritis","equivalent_identifiers":["MONDO:0001870","DOID:14064","UMLS:C0403414","MEDDRA:10036303","SNOMEDCT:68544003","medgen:140785"],"information_content":100.0}
{"id":"MONDO:0001875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epicondylitis","equivalent_identifiers":["MONDO:0001875","DOID:14087","DOID:14088","EFO:1001887","EFO:1001896","UMLS:C0014488","UMLS:C0039516","UMLS:C0158309","MESH:D013716","MEDDRA:10014971","MEDDRA:10018503","MEDDRA:10024032","MEDDRA:10027064","MEDDRA:10043258","MEDDRA:10068808","NCIT:C34589","NCIT:C35067","SNOMEDCT:202855006","SNOMEDCT:53286005","SNOMEDCT:73583000","medgen:4090","ICD10:M77.1","ICD9:726.32"],"information_content":95.4}
{"id":"MONDO:0001879","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anus cancer","equivalent_identifiers":["MONDO:0001879","DOID:14110","UMLS:C0153446","MEDDRA:10025719","NCIT:C7379","SNOMEDCT:363490009","medgen:56303","ICD10:C21.0","ICD10:C21.1","ICD9:154.2","ICD9:154.3"],"information_content":70.8}
{"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":"MONDO:0001882","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bacteriuria","equivalent_identifiers":["MONDO:0001882","DOID:1412","UMLS:C0004659","MESH:D001437","MEDDRA:10004056","MEDDRA:10004059","SNOMEDCT:61373006","medgen:491","icd11.foundation:626563645","ICD10:R82.71","HP:0012461"],"information_content":100.0}
{"id":"MONDO:0001883","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blue toe syndrome","equivalent_identifiers":["MONDO:0001883","DOID:14121","UMLS:C0242645","MESH:D018438","MEDDRA:10059126","medgen:66940"],"information_content":100.0}
{"id":"MONDO:0001885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lateral cystocele","equivalent_identifiers":["MONDO:0001885","DOID:14130","UMLS:C2711750","SNOMEDCT:441891001","medgen:751516","ICD10:N81.12","ICD9:618.02"],"information_content":100.0}
{"id":"MONDO:0001886","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"midline cystocele","equivalent_identifiers":["MONDO:0001886","DOID:14131","UMLS:C1456248","SNOMEDCT:423633003","medgen:733480","ICD10:N81.11","ICD9:618.01"],"information_content":100.0}
{"id":"MONDO:0001889","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ovarian failure","equivalent_identifiers":["MONDO:0001889","DOID:1414","EFO:0009003","UMLS:C0029697","UMLS:C0154208","UMLS:C0747102","MEDDRA:10013904","MEDDRA:10033141","MEDDRA:10033165","MEDDRA:10046088","NCIT:C113351","SNOMEDCT:111550004","SNOMEDCT:37102008","medgen:509544","icd11.foundation:1801368748","ICD9:256.3"],"information_content":71.0}
{"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":"MONDO:0001901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IgG Deficiency","equivalent_identifiers":["MONDO:0001901","DOID:14176","UMLS:C0162539","MESH:D017099","MEDDRA:10021275","MEDDRA:10057863","NCIT:C27024","SNOMEDCT:190981001","medgen:56446","ICD10:D80.3"],"information_content":100.0}
{"id":"MONDO:0001902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital agammaglobulinemia","equivalent_identifiers":["MONDO:0001902","DOID:14177","UMLS:C1457897","UMLS:C5574711","MEDDRA:10010509","MEDDRA:10060747","MEDDRA:10071120","MEDDRA:10071133","SNOMEDCT:116133005","SNOMEDCT:267460002","medgen:1806025","ICD9:279.04"],"information_content":92.8}
{"id":"MONDO:0001903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"calcific tendinitis","equivalent_identifiers":["MONDO:0001903","DOID:14181","UMLS:C0158303","UMLS:C0521515","MEDDRA:10006937","MEDDRA:10077510","MEDDRA:10077511","SNOMEDCT:27741009","SNOMEDCT:699942000","SNOMEDCT:95414005","medgen:636635","icd11.foundation:856383808","ICD10:M75.3","ICD9:726.11"],"information_content":100.0}
{"id":"MONDO:0001904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyneuropathy due to drug","equivalent_identifiers":["MONDO:0001904","DOID:14184","UMLS:C0154762","SNOMEDCT:7339009","medgen:509649","ICD10:G62.0","ICD9:357.6"],"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":"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":"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:0001912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute frontal sinusitis","equivalent_identifiers":["MONDO:0001912","DOID:14225","UMLS:C0155805","MEDDRA:10000750","SNOMEDCT:91038008","medgen:510087","icd11.foundation:86893536","ICD10:J01.1","ICD9:461.1"],"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":"MONDO:0001914","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scleromalacia perforans","equivalent_identifiers":["MONDO:0001914","DOID:14230","UMLS:C0155354","MEDDRA:10039715","SNOMEDCT:26664005","medgen:509929","icd11.foundation:740830358","ICD10:H15.05","ICD9:379.04"],"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":"MONDO:0001923","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitreoretinal dystrophy","equivalent_identifiers":["MONDO:0001923","DOID:14251","UMLS:C0154863","SNOMEDCT:79556007","medgen:509690","icd11.foundation:817777781","ICD10:H35.51","ICD9:362.73"],"information_content":100.0}
{"id":"MONDO:0001926","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ureter Disorder","equivalent_identifiers":["MONDO:0001926","DOID:1426","UMLS:C0403608","MESH:D014515","MEDDRA:10046400","MEDDRA:10049751","MEDDRA:10062220","NCIT:C27148","SNOMEDCT:128073008","medgen:98018"],"information_content":71.9}
{"id":"MONDO:0001928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"suppurative cholangitis","equivalent_identifiers":["MONDO:0001928","DOID:14269","UMLS:C0267924","MEDDRA:10008610","MEDDRA:10056952","NCIT:C35336","SNOMEDCT:69850007","medgen:82766","icd11.foundation:32799822","HP:0030987"],"information_content":100.0}
{"id":"MONDO:0001929","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ascending cholangitis","equivalent_identifiers":["MONDO:0001929","DOID:14270","UMLS:C0311273","MEDDRA:10003444","NCIT:C35372","SNOMEDCT:26918003","medgen:81387"],"information_content":100.0}
{"id":"MONDO:0001930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute cholangitis","equivalent_identifiers":["MONDO:0001930","DOID:14271","UMLS:C0267917","MEDDRA:10008605","MEDDRA:10008606","NCIT:C35334","SNOMEDCT:6215006","medgen:82764"],"information_content":95.4}
{"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: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:0001942","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized anxiety disorder","equivalent_identifiers":["MONDO:0001942","DOID:14320","EFO:1001892","UMLS:C0270549","MESH:D000098647","MEDDRA:10018075","MEDDRA:10018105","NCIT:C92622","SNOMEDCT:21897009","medgen:452363","ICD10:F41.1","ICD9:300.02"],"information_content":100.0}
{"id":"MONDO:0001950","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal ectasia","equivalent_identifiers":["MONDO:0001950","DOID:1436","UMLS:C0155135","MEDDRA:10011006","SNOMEDCT:14748007","medgen:509803","icd11.foundation:1703179358","ICD10:H18.71","ICD9:371.71"],"information_content":100.0}
{"id":"MONDO:0001951","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crusted scabies","equivalent_identifiers":["MONDO:0001951","DOID:14374","UMLS:C0028425","MEDDRA:10029791","NCIT:C34855","SNOMEDCT:128870005","medgen:14409"],"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":"MONDO:0001954","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombophlebitis migrans","equivalent_identifiers":["MONDO:0001954","DOID:14392","UMLS:C0152250","UMLS:C0398359","MEDDRA:10043581","MEDDRA:10060905","SNOMEDCT:31268005","medgen:508947","icd11.foundation:674623750","ICD10:I82.1","ICD9:453.1"],"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:0001957","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"critical illness polyneuropathy","equivalent_identifiers":["MONDO:0001957","DOID:14402","UMLS:C0393851","MEDDRA:10066336","NCIT:C191601","SNOMEDCT:230594005","medgen:140748","ICD10:G62.81","ICD9:357.82"],"information_content":100.0}
{"id":"MONDO:0001962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"abnormality of glucagon secretion","equivalent_identifiers":["MONDO:0001962","DOID:14427","UMLS:C0154191","MEDDRA:10000204","MEDDRA:10018403","MEDDRA:10061186","SNOMEDCT:11178005","medgen:509540","ICD9:251.4"],"information_content":100.0}
{"id":"MONDO:0001965","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Sclerokeratitis","equivalent_identifiers":["MONDO:0001965","DOID:14444","UMLS:C0155090","MEDDRA:10023339","MEDDRA:10039718","MEDDRA:10064846","SNOMEDCT:27886001","SNOMEDCT:417290008","medgen:509781","icd11.foundation:219361296","ICD10:H16.33","ICD9:370.54"],"information_content":100.0}
{"id":"MONDO:0001966","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic closed-angle glaucoma","equivalent_identifiers":["MONDO:0001966","DOID:14445","UMLS:C0154947","MEDDRA:10008833","SNOMEDCT:33647009","medgen:509736","ICD10:H40.22","ICD9:365.23"],"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":"MONDO:0001969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mixed gonadal dysgenesis","equivalent_identifiers":["MONDO:0001969","DOID:14449","UMLS:C0018055","MESH:D006060","SNOMEDCT:83579008","medgen:6654"],"information_content":100.0}
{"id":"MONDO:0001971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"farmer's lung","equivalent_identifiers":["MONDO:0001971","DOID:14453","UMLS:C0015634","MESH:D005203","MEDDRA:10016221","MEDDRA:10016222","MEDDRA:10073657","NCIT:C34605","SNOMEDCT:18690003","medgen:8785","icd11.foundation:666590509","ICD10:J67.0","ICD9:495.0"],"information_content":100.0}
{"id":"MONDO:0001979","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dumping syndrome","equivalent_identifiers":["MONDO:0001979","DOID:14495","EFO:1001307","UMLS:C0013288","MESH:D004377","MEDDRA:10013810","NCIT:C2994","medgen:8501","icd11.foundation:237191235","ICD10:K91.1","HP:6001017"],"information_content":100.0}
{"id":"MONDO:0001982","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Niemann-Pick disease","equivalent_identifiers":["MONDO:0001982","DOID:14504","EFO:1001380","UMLS:C0028064","MESH:D009542","MEDDRA:10029403","MEDDRA:10041515","NCIT:C61269","SNOMEDCT:58459009","medgen:10348","icd11.foundation:398872780","ICD10:E75.24"],"information_content":82.6}
{"id":"MONDO:0001997","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"root resorption","equivalent_identifiers":["MONDO:0001997","DOID:14550","UMLS:C0035851","MESH:D012391","medgen:11268"],"information_content":100.0}
{"id":"MONDO:0001999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary pulmonary hypertension","equivalent_identifiers":["MONDO:0001999","DOID:14557","UMLS:C0152171","MEDDRA:10036727","MEDDRA:10037405","medgen:57749","ICD10:I27.0","ICD9:416.0"],"information_content":95.4}
{"id":"MONDO:0002002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postsurgical hypothyroidism","equivalent_identifiers":["MONDO:0002002","DOID:1458","UMLS:C0154157","MEDDRA:10021117","MEDDRA:10057242","SNOMEDCT:27059002","medgen:509534","ICD10:E89.0","ICD9:244.0"],"information_content":100.0}
{"id":"MONDO:0002006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"serous labyrinthitis","equivalent_identifiers":["MONDO:0002006","DOID:1467","UMLS:C0155504","MEDDRA:10040112","SNOMEDCT:41674001","medgen:509993","ICD9:386.31"],"information_content":100.0}
{"id":"MONDO:0002008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"labyrinthitis","equivalent_identifiers":["MONDO:0002008","DOID:1468","DOID:3930","EFO:0009604","UMLS:C0022893","MESH:D007762","MEDDRA:10021964","MEDDRA:10023567","MEDDRA:10023569","MEDDRA:10023570","MEDDRA:10059398","MEDDRA:10066966","NCIT:C128369","SNOMEDCT:23919004","medgen:5991","icd11.foundation:901550793","ICD10:H83.0","ICD9:386.3"],"information_content":87.2}
{"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:0002010","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FG syndrome","equivalent_identifiers":["MONDO:0002010","DOID:14711","OMIM.PS:305450","EFO:0009297","UMLS:C0220769","MESH:C537923","SNOMEDCT:49984004","medgen:113106","icd11.foundation:156523187"],"information_content":87.2}
{"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":"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: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:0002026","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"candidiasis","equivalent_identifiers":["MONDO:0002026","DOID:1508","EFO:1001283","UMLS:C0006840","MESH:D002177","MEDDRA:10007134","MEDDRA:10007136","MEDDRA:10007152","MEDDRA:10007154","MEDDRA:10007163","MEDDRA:10027817","MEDDRA:10027821","MEDDRA:10027825","MEDDRA:10027834","MEDDRA:10049991","MEDDRA:10074170","NCIT:C26711","SNOMEDCT:78048006","medgen:14299","ICD10:B37","ICD9:112"],"information_content":82.1}
{"id":"MONDO:0002027","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"avoidant personality disorder","equivalent_identifiers":["MONDO:0002027","DOID:1509","UMLS:C0004444","UMLS:C0494415","MEDDRA:10003864","MEDDRA:10003865","NCIT:C92636","SNOMEDCT:231528008","SNOMEDCT:37746008","medgen:13985","icd11.foundation:429615620","ICD10:F60.6","ICD9:301.82"],"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:0002036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"penile disorder","equivalent_identifiers":["MONDO:0002036","DOID:1529","UMLS:C0029785","UMLS:C0030846","MESH:D010409","MEDDRA:10013252","MEDDRA:10034303","MEDDRA:10034336","MEDDRA:10045820","NCIT:C26846","SNOMEDCT:33958003","medgen:10627","ICD10:N48.8","ICD9:607.8"],"information_content":64.7}
{"id":"MONDO:0002037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pleural disease","equivalent_identifiers":["MONDO:0002037","DOID:1532","UMLS:C0032226","MESH:D010995","MEDDRA:10035595","MEDDRA:10035596","MEDDRA:10035597","NCIT:C26859","SNOMEDCT:88075009","medgen:10804"],"information_content":72.6}
{"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":"MONDO:0002046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alcohol abuse","equivalent_identifiers":["MONDO:0002046","DOID:1574","UMLS:C0085762","UMLS:C2874409","UMLS:C2874410","UMLS:C2874416","UMLS:C2874418","UMLS:C2874419","UMLS:C2874420","UMLS:C4236923","UMLS:C4236924","UMLS:C4236926","UMLS:C4236927","UMLS:C4236932","UMLS:C4236934","UMLS:C4236937","UMLS:C4236938","UMLS:C4236940","UMLS:C4236946","UMLS:C4236947","UMLS:C4236949","UMLS:C4236953","UMLS:C4236955","UMLS:C4268202","UMLS:C4268203","UMLS:C4268214","UMLS:C4509032","UMLS:C4509033","UMLS:C5936802","MESH:D000437","MEDDRA:10001584","MEDDRA:10001589","MEDDRA:10063501","NCIT:C195570","NCIT:C195576","NCIT:C20701","SNOMEDCT:15167005","medgen:39339","ICD10:F10.1","ICD9:305.0","HP:0430037"],"information_content":89.4}
{"id":"MONDO:0002048","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thrombocytopenia due to immune destruction","equivalent_identifiers":["MONDO:0002048","DOID:1587","UMLS:C0272286","MEDDRA:10083567","NCIT:C3991","SNOMEDCT:2897005","medgen:75778"],"information_content":86.3}
{"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":"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":"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":"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:0002060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intraductal papilloma","equivalent_identifiers":["MONDO:0002060","DOID:1627","UMLS:C0206713","MESH:D018300","NCIT:C3785","SNOMEDCT:5244003","medgen:61667","icd11.foundation:288706574"],"information_content":82.6}
{"id":"MONDO:0002065","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign breast adenomyoepithelioma","equivalent_identifiers":["MONDO:0002065","DOID:1641","UMLS:C1332477","NCIT:C5144","medgen:231421"],"information_content":100.0}
{"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":"MONDO:0002072","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"melanotic neuroectodermal tumor","equivalent_identifiers":["MONDO:0002072","DOID:166","EFO:1001038","UMLS:C0206094","MESH:D017600","NCIT:C3717","SNOMEDCT:1513001","SNOMEDCT:404042005","SNOMEDCT:767047005","medgen:60073"],"information_content":95.4}
{"id":"MONDO:0002073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant pineal area germ cell neoplasm","equivalent_identifiers":["MONDO:0002073","DOID:1660","UMLS:C0349621","UMLS:C1334612","NCIT:C4659","NCIT:C6767","SNOMEDCT:277508009","medgen:233159"],"information_content":86.3}
{"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":"MONDO:0002087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peritoneum cancer","equivalent_identifiers":["MONDO:0002087","DOID:1725","UMLS:C0153466","UMLS:C0153467","MEDDRA:10026340","MEDDRA:10026469","MEDDRA:10026669","MEDDRA:10061269","NCIT:C194243","NCIT:C3538","SNOMEDCT:363492001","medgen:102270","ICD10:C48.1","ICD9:158.8"],"information_content":69.0}
{"id":"MONDO:0002095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vascular cancer","equivalent_identifiers":["MONDO:0002095","DOID:175","orphanet:673466","EFO:0003967","UMLS:C0346845","UMLS:C1290407","UMLS:C1334616","UMLS:C1334617","UMLS:C1334630","UMLS:C1335753","UMLS:C1458139","MESH:D009383","NCIT:C5348","NCIT:C5380","NCIT:C5383","NCIT:C5388","NCIT:C7390","NCIT:C8538","SNOMEDCT:1254956005","SNOMEDCT:1254957001","SNOMEDCT:126737003","SNOMEDCT:93817006","medgen:264315"],"information_content":67.3}
{"id":"MONDO:0002099","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Histoplasma capsulatum infectious disease","equivalent_identifiers":["MONDO:0002099","DOID:1759","UMLS:C0153261","MEDDRA:10021808","SNOMEDCT:76255006","ICD10:B39.4","ICD9:115.0"],"information_content":90.9}
{"id":"MONDO:0002100","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiovascular cancer","equivalent_identifiers":["MONDO:0002100","DOID:176","UMLS:C3898472","NCIT:C114940","medgen:858066"],"information_content":65.5}
{"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:0002103","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"factitious disorder","equivalent_identifiers":["MONDO:0002103","DOID:1766","UMLS:C0015480","UMLS:C0015481","UMLS:C0026785","MESH:D005162","MESH:D009110","MEDDRA:10016068","MEDDRA:10016071","MEDDRA:10016072","MEDDRA:10016073","MEDDRA:10016074","MEDDRA:10028279","MEDDRA:10061595","NCIT:C92198","SNOMEDCT:21586000","SNOMEDCT:430751001","SNOMEDCT:50705009","medgen:4632","ICD9:300.16","HP:5200425"],"information_content":95.4}
{"id":"MONDO:0002104","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conversion disorder","equivalent_identifiers":["MONDO:0002104","DOID:1768","UMLS:C0009946","MESH:D003291","MEDDRA:10010893","MEDDRA:10010894","MEDDRA:10010895","MEDDRA:10010896","MEDDRA:10021155","MEDDRA:10029335","MEDDRA:10037942","medgen:3230","ICD10:F44","ICD9:300.11"],"information_content":100.0}
{"id":"MONDO:0002105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toxic megacolon","equivalent_identifiers":["MONDO:0002105","DOID:1770","UMLS:C0025162","MESH:D008532","MEDDRA:10027115","MEDDRA:10044144","SNOMEDCT:1269214001","SNOMEDCT:28536002","medgen:9940","icd11.foundation:1497870078","ICD10:K59.31"],"information_content":100.0}
{"id":"MONDO:0002108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid cancer","equivalent_identifiers":["MONDO:0002108","DOID:1781","UMLS:C0007115","MEDDRA:10026535","MEDDRA:10043738","MEDDRA:10043745","MEDDRA:10043749","MEDDRA:10066474","NCIT:C7510","SNOMEDCT:363478007","medgen:2869","ICD10:C73","ICD9:193","KEGG.DISEASE:05216"],"information_content":62.7}
{"id":"MONDO:0002109","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary cancer","equivalent_identifiers":["MONDO:0002109","DOID:1785","EFO:0005578","UMLS:C0496842","MEDDRA:10026671","MEDDRA:10026672","MEDDRA:10035101","MEDDRA:10035106","MEDDRA:10073833","NCIT:C4769","SNOMEDCT:363482009","medgen:96922","ICD10:C75.1"],"information_content":82.6}
{"id":"MONDO:0002110","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenal rest tumor","equivalent_identifiers":["MONDO:0002110","DOID:1786","EFO:1000798","UMLS:C0001630","MESH:D000314","NCIT:C2860","SNOMEDCT:54292009","medgen:7902"],"information_content":100.0}
{"id":"MONDO:0002112","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign peritoneal mesothelioma","equivalent_identifiers":["MONDO:0002112","DOID:1789","UMLS:C0346113","NCIT:C7354","SNOMEDCT:109852009","medgen:87540"],"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:0002120","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuroendocrine carcinoma","equivalent_identifiers":["MONDO:0002120","DOID:1800","UMLS:C0206695","MESH:D018278","MEDDRA:10057270","NCIT:C3773","SNOMEDCT:1286767006","SNOMEDCT:253000007","medgen:104919"],"information_content":61.6}
{"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: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":"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":"MONDO:0002129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone cancer","equivalent_identifiers":["MONDO:0002129","DOID:184","EFO:1000350","UMLS:C0279530","MESH:D001859","MEDDRA:10005949","MEDDRA:10005950","MEDDRA:10053650","NCIT:C4016","SNOMEDCT:428281000","medgen:79002"],"information_content":63.1}
{"id":"MONDO:0002134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"physiological sexual disorder","equivalent_identifiers":["MONDO:0002134","DOID:1876","UMLS:C0237873","MESH:D012735","medgen:66756","ICD10:F52.9"],"information_content":90.9}
{"id":"MONDO:0002135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic nerve disorder","equivalent_identifiers":["MONDO:0002135","DOID:1891","UMLS:C0029132","MESH:D009901","MEDDRA:10030932","MEDDRA:10061322","NCIT:C79698","SNOMEDCT:77157004","medgen:854546"],"information_content":73.4}
{"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: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":"MONDO:0002150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypothalamic disorder","equivalent_identifiers":["MONDO:0002150","DOID:1931","UMLS:C0020655","MESH:D007027","MEDDRA:10073187","SNOMEDCT:399100005","medgen:6988"],"information_content":74.3}
{"id":"MONDO:0002153","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"telogen effluvium","equivalent_identifiers":["MONDO:0002153","DOID:1943","UMLS:C0263518","MEDDRA:10043200","NCIT:C112200","SNOMEDCT:39479004","medgen:537938","icd11.foundation:1188535025","ICD10:L65.0","ICD9:704.02","HP:0025470"],"information_content":100.0}
{"id":"MONDO:0002154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichomoniasis","equivalent_identifiers":["MONDO:0002154","DOID:1947","UMLS:C0040921","MESH:D014245","MEDDRA:10044618","MEDDRA:10044620","MEDDRA:10044623","NCIT:C35720","SNOMEDCT:105648001","SNOMEDCT:56335008","medgen:52838","icd11.foundation:1220564554","ICD10:A59","ICD9:131"],"information_content":86.3}
{"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":"MONDO:0002156","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fallopian tube disorder","equivalent_identifiers":["MONDO:0002156","DOID:1962","EFO:0009548","UMLS:C0015556","MESH:D005184","MEDDRA:10052094","NCIT:C26771","SNOMEDCT:128134005","medgen:8774"],"information_content":68.1}
{"id":"MONDO:0002158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fallopian tube cancer","equivalent_identifiers":["MONDO:0002158","DOID:1964","orphanet:180242","UMLS:C0153579","MEDDRA:10016181","MEDDRA:10025913","MEDDRA:10025915","NCIT:C7480","SNOMEDCT:363444001","medgen:102276","icd11.foundation:459381514","ICD10:C57.0","ICD9:183.2"],"information_content":70.0}
{"id":"MONDO:0002163","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thymus lipoma","equivalent_identifiers":["MONDO:0002163","DOID:1975","UMLS:C1336744","NCIT:C6452","SNOMEDCT:447137005","medgen:234427"],"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: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":"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: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":"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:0002182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"communication disorder","equivalent_identifiers":["MONDO:0002182","DOID:2033","UMLS:C0009460","MESH:D003147","MEDDRA:10010117","MEDDRA:10010118","MEDDRA:10010119","MEDDRA:10061046","NCIT:C2958","SNOMEDCT:278919001","medgen:3549","ICD10:F80.9"],"information_content":79.9}
{"id":"MONDO:0002183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"enthesopathy","equivalent_identifiers":["MONDO:0002183","DOID:204","EFO:0009666","UMLS:C0242490","MESH:D000070676","MEDDRA:10014910","MEDDRA:10014918","MEDDRA:10045864","SNOMEDCT:23680005","medgen:66909","ICD10:M77.9","ICD9:726.90"],"information_content":87.2}
{"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":"MONDO:0002186","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute maxillary sinusitis","equivalent_identifiers":["MONDO:0002186","DOID:2050","UMLS:C0155804","MEDDRA:10000858","MEDDRA:10001078","SNOMEDCT:68272006","medgen:510086","icd11.foundation:1617309258","ICD10:J01.0","ICD9:461.0"],"information_content":100.0}
{"id":"MONDO:0002187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulvar disease","equivalent_identifiers":["MONDO:0002187","DOID:2059","UMLS:C0042994","MESH:D014845","MEDDRA:10013287","MEDDRA:10047727","MEDDRA:10047728","MEDDRA:10047754","MEDDRA:10047755","NCIT:C27631","SNOMEDCT:5089007","medgen:53055"],"information_content":66.1}
{"id":"MONDO:0002190","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulvar syringoma","equivalent_identifiers":["MONDO:0002190","DOID:2064","UMLS:C1520099","NCIT:C40311","medgen:311490"],"information_content":100.0}
{"id":"MONDO:0002191","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syringoma","equivalent_identifiers":["MONDO:0002191","DOID:2065","UMLS:C0206673","MESH:D018252","MEDDRA:10042927","NCIT:C3761","SNOMEDCT:302828001","SNOMEDCT:71244007","medgen:60205","icd11.foundation:1091480008"],"information_content":92.8}
{"id":"MONDO:0002192","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulvar angiokeratoma","equivalent_identifiers":["MONDO:0002192","DOID:2066","UMLS:C1274281","MEDDRA:10047735","NCIT:C8596","SNOMEDCT:402841001","medgen:266144"],"information_content":100.0}
{"id":"MONDO:0002200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eccrine mixed tumor of skin","equivalent_identifiers":["MONDO:0002200","DOID:2079","EFO:1000385","UMLS:C0346026","NCIT:C4474","SNOMEDCT:254720009","SNOMEDCT:400144002","medgen:91074"],"information_content":95.4}
{"id":"MONDO:0002204","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient arthritis","equivalent_identifiers":["MONDO:0002204","DOID:2092","UMLS:C3887596","SNOMEDCT:6011000119108","medgen:854445","icd11.foundation:846745561","ICD10:M12.8","ICD9:716.4"],"information_content":100.0}
{"id":"MONDO:0002205","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulvar melanoma","equivalent_identifiers":["MONDO:0002205","DOID:2093","UMLS:C0241989","NCIT:C40329","SNOMEDCT:254896002","medgen:66040","HP:0030418"],"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":"MONDO:0002216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brain sarcoma","equivalent_identifiers":["MONDO:0002216","DOID:2132","UMLS:C1332607","MEDDRA:10073857","NCIT:C5154","medgen:272381"],"information_content":88.2}
{"id":"MONDO:0002233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"enamel caries","equivalent_identifiers":["MONDO:0002233","DOID:217","UMLS:C0266853","SNOMEDCT:109570002","SNOMEDCT:80353004","medgen:540214","ICD9:521.01"],"information_content":95.4}
{"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":"MONDO:0002235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eyelid neoplasm","equivalent_identifiers":["MONDO:0002235","DOID:2173","EFO:1000934","UMLS:C0015424","MESH:D005142","MEDDRA:10050497","MEDDRA:10062423","NCIT:C3031","SNOMEDCT:278697001","medgen:41939"],"information_content":76.7}
{"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: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: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: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":"MONDO:0002253","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylosis","equivalent_identifiers":["MONDO:0002253","DOID:2247","UMLS:C0038019","UMLS:C0158244","MESH:D055009","MEDDRA:10025020","MEDDRA:10041678","MEDDRA:10041681","MEDDRA:10041682","SNOMEDCT:48210000","medgen:21295","ICD10:M47","ICD9:721.9"],"information_content":100.0}
{"id":"MONDO:0002256","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervix disorder","equivalent_identifiers":["MONDO:0002256","DOID:2253","UMLS:C0007867","MESH:D002577","MEDDRA:10008351","MEDDRA:10013204","MEDDRA:10013281","MEDDRA:10046780","MEDDRA:10048920","NCIT:C40241","SNOMEDCT:63339007","medgen:2970"],"information_content":62.5}
{"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":"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":"MONDO:0002259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gonadal disease","equivalent_identifiers":["MONDO:0002259","DOID:2277","UMLS:C0018050","MESH:D006058","NCIT:C26786","medgen:9074"],"information_content":58.8}
{"id":"MONDO:0002261","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratopathy","equivalent_identifiers":["MONDO:0002261","DOID:2283","UMLS:C0235270","MEDDRA:10023365","MEDDRA:10023367","NCIT:C27012","medgen:68615"],"information_content":92.8}
{"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:0002269","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastroenteritis","equivalent_identifiers":["MONDO:0002269","DOID:2326","EFO:1001463","UMLS:C0017160","MESH:D005759","MEDDRA:10017888","MEDDRA:10017907","NCIT:C34632","SNOMEDCT:25374005","medgen:8967"],"information_content":64.3}
{"id":"MONDO:0002272","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyclonal hypergammaglobulinemia","equivalent_identifiers":["MONDO:0002272","DOID:2344","UMLS:C0154254","MEDDRA:10036041","MEDDRA:10036042","NCIT:C35885","SNOMEDCT:190808009","medgen:56337","ICD10:D89.0","ICD9:273.0"],"information_content":83.6}
{"id":"MONDO:0002274","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monoclonal paraproteinemia disease","equivalent_identifiers":["MONDO:0002274","DOID:2346","UMLS:C0026471","MEDDRA:10027866","MEDDRA:10027867","SNOMEDCT:267440005","medgen:10088","ICD9:273.1"],"information_content":100.0}
{"id":"MONDO:0002275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"generalized atherosclerosis","equivalent_identifiers":["MONDO:0002275","DOID:2347","UMLS:C0017327","MEDDRA:10003603","MEDDRA:10018104","MEDDRA:10073905","NCIT:C35767","SNOMEDCT:39823006","medgen:4866","ICD10:I70.91","ICD9:440.9"],"information_content":100.0}
{"id":"MONDO:0002279","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"iron metabolism disease","equivalent_identifiers":["MONDO:0002279","DOID:2351","UMLS:C0012715","MESH:D019189","MEDDRA:10022983","SNOMEDCT:30913008","medgen:8438","ICD9:275.0"],"information_content":75.7}
{"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":"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":"MONDO:0002282","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"West Nile fever","equivalent_identifiers":["MONDO:0002282","DOID:2366","UMLS:C0043124","MESH:D014901","SNOMEDCT:417093003","medgen:22705","ICD10:A92.3","ICD9:066.4"],"information_content":90.9}
{"id":"MONDO:0002283","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuroaxonal dystrophy","equivalent_identifiers":["MONDO:0002283","DOID:2367","UMLS:C0338473","MESH:D019150","NCIT:C161542","SNOMEDCT:230365004","medgen:90924"],"information_content":79.3}
{"id":"MONDO:0002285","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pupil disorder","equivalent_identifiers":["MONDO:0002285","DOID:238","UMLS:C0034124","MESH:D011681","MEDDRA:10037514","MEDDRA:10037521","MEDDRA:10037522","NCIT:C193440","SNOMEDCT:68633000","medgen:11038"],"information_content":89.4}
{"id":"MONDO:0002286","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"renal artery disease","equivalent_identifiers":["MONDO:0002286","DOID:2388","UMLS:C0268790","UMLS:C3640053","MEDDRA:10038544","MEDDRA:10038553","NCIT:C101254","NCIT:C35338","SNOMEDCT:16934004","medgen:768693","ICD9:593.81"],"information_content":87.2}
{"id":"MONDO:0002287","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glandular cystitis","equivalent_identifiers":["MONDO:0002287","DOID:2392","UMLS:C0268837","MEDDRA:10048837","NCIT:C39860","SNOMEDCT:72815004","medgen:82830"],"information_content":95.4}
{"id":"MONDO:0002289","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"iris disorder","equivalent_identifiers":["MONDO:0002289","DOID:240","UMLS:C0022078","MESH:D007499","MEDDRA:10022950","MEDDRA:10061254","MEDDRA:10068847","NCIT:C34737","SNOMEDCT:85478004","medgen:9556"],"information_content":75.2}
{"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":"MONDO:0002299","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glomangioma","equivalent_identifiers":["MONDO:0002299","DOID:2436","UMLS:C0334421","NCIT:C4222","SNOMEDCT:1293123009","SNOMEDCT:7429002","medgen:87239"],"information_content":90.9}
{"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: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":"MONDO:0002307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blepharoconjunctivitis","equivalent_identifiers":["MONDO:0002307","DOID:2456","UMLS:C0005743","MEDDRA:10005151","MEDDRA:10005153","MEDDRA:10005154","NCIT:C34430","SNOMEDCT:68659002","medgen:2669","icd11.foundation:956823887","ICD10:H10.5","ICD9:372.2"],"information_content":90.9}
{"id":"MONDO:0002309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papillary conjunctivitis","equivalent_identifiers":["MONDO:0002309","DOID:2458","UMLS:C0854165","MEDDRA:10010753","NCIT:C35616","SNOMEDCT:416878008","medgen:167698","icd11.foundation:392841027"],"information_content":95.4}
{"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: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: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:0002322","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angiodysplasia","equivalent_identifiers":["MONDO:0002322","DOID:2494","UMLS:C0085411","UMLS:C0267370","MESH:D016888","MEDDRA:10051846","MEDDRA:10061636","MEDDRA:10073397","MEDDRA:10084094","MEDDRA:10088396","SNOMEDCT:1290553006","SNOMEDCT:1295237006","SNOMEDCT:90858003","medgen:88403"],"information_content":92.8}
{"id":"MONDO:0002325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tooth erosion","equivalent_identifiers":["MONDO:0002325","DOID:2498","UMLS:C0040436","MESH:D014077","MEDDRA:10015130","MEDDRA:10044038","SNOMEDCT:82212003","medgen:21584","ICD10:K03.2","ICD9:521.3"],"information_content":92.8}
{"id":"MONDO:0002329","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular disorder","equivalent_identifiers":["MONDO:0002329","DOID:2519","EFO:0009601","UMLS:C0039584","UMLS:C1536496","MESH:D013733","MEDDRA:10013273","MEDDRA:10043306","MEDDRA:10043307","MEDDRA:10043361","NCIT:C26890","SNOMEDCT:236763001","SNOMEDCT:64910008","medgen:11743"],"information_content":64.8}
{"id":"MONDO:0002330","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alcoholic psychosis","equivalent_identifiers":["MONDO:0002330","DOID:252","EFO:1001260","UMLS:C0033936","MESH:D011604","MEDDRA:10001632","MEDDRA:10001634","MEDDRA:10037236","MEDDRA:10045621","SNOMEDCT:1231846001","SNOMEDCT:42344001","medgen:11009","ICD9:291.9"],"information_content":100.0}
{"id":"MONDO:0002332","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"splenic disease","equivalent_identifiers":["MONDO:0002332","DOID:2529","EFO:0009002","UMLS:C0037997","MESH:D013158","MEDDRA:10013111","MEDDRA:10013271","MEDDRA:10041633","MEDDRA:10041634","MEDDRA:10041635","NCIT:C35823","SNOMEDCT:51244008","medgen:21291","ICD10:D73","ICD9:289.50"],"information_content":74.6}
{"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: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:0002337","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intra-abdominal hemangioma","equivalent_identifiers":["MONDO:0002337","DOID:254","UMLS:C0154052","MEDDRA:10019394","MEDDRA:10022728","MEDDRA:10055394","MEDDRA:10055901","NCIT:C3635","SNOMEDCT:189197001","medgen:57583","ICD10:D18.03","ICD9:228.04"],"information_content":87.2}
{"id":"MONDO:0002338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"extratemporal epilepsy","equivalent_identifiers":["MONDO:0002338","DOID:2544","UMLS:C0270849","NCIT:C7760","SNOMEDCT:111498005","medgen:78737"],"information_content":100.0}
{"id":"MONDO:0002342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondromalacia","equivalent_identifiers":["MONDO:0002342","DOID:1222","DOID:2557","EFO:0005802","UMLS:C0007302","UMLS:C0085700","MESH:D002357","MEDDRA:10007707","MEDDRA:10007708","MEDDRA:10007709","MEDDRA:10008729","MEDDRA:10008730","MEDDRA:10051395","MEDDRA:10061762","SNOMEDCT:50927007","SNOMEDCT:63198006","medgen:39328","icd11.foundation:547071520","ICD10:M94","ICD10:M94.2","ICD10:M94.9","ICD9:733.92"],"information_content":92.8}
{"id":"MONDO:0002343","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"splenic hemangioma","equivalent_identifiers":["MONDO:0002343","DOID:256","UMLS:C0685201","MEDDRA:10068123","MEDDRA:10068127","NCIT:C8541","SNOMEDCT:93472004","medgen:151930","HP:0410268"],"information_content":95.4}
{"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":"MONDO:0002347","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"barbiturate dependence","equivalent_identifiers":["MONDO:0002347","DOID:2575","UMLS:C0154482","UMLS:C0338767","MEDDRA:10004103","MEDDRA:10012340","MEDDRA:10013667","SNOMEDCT:231472009","medgen:572756","ICD9:304.11"],"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:0002352","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"larynx cancer","equivalent_identifiers":["MONDO:0002352","DOID:2596","EFO:1000354","UMLS:C0007107","MEDDRA:10023825","MEDDRA:10023826","MEDDRA:10023827","MEDDRA:10023900","MEDDRA:10023915","MEDDRA:10026038","MEDDRA:10026044","NCIT:C7484","SNOMEDCT:363429002","medgen:2868","ICD10:C32","ICD9:161"],"information_content":69.0}
{"id":"MONDO:0002353","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glottis neoplasm","equivalent_identifiers":["MONDO:0002353","DOID:2597","UMLS:C0345713","NCIT:C4425","SNOMEDCT:126693009","medgen:138026"],"information_content":87.2}
{"id":"MONDO:0002354","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign laryngeal neoplasm","equivalent_identifiers":["MONDO:0002354","DOID:2598","UMLS:C0153952","MEDDRA:10004278","MEDDRA:10004339","MEDDRA:10023842","MEDDRA:10023914","NCIT:C3601","SNOMEDCT:92175003","medgen:56325"],"information_content":83.1}
{"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":"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":"MONDO:0002359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periosteal chondroma","equivalent_identifiers":["MONDO:0002359","DOID:2601","UMLS:C0334548","NCIT:C4302","SNOMEDCT:1293244004","SNOMEDCT:1293245003","SNOMEDCT:9266000","medgen:87260"],"information_content":100.0}
{"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":"MONDO:0002361","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transverse colon cancer","equivalent_identifiers":["MONDO:0002361","DOID:261","UMLS:C0153434","MEDDRA:10007118","MEDDRA:10026555","NCIT:C194077","SNOMEDCT:363408006","medgen:509290","ICD10:C18.4","ICD9:153.1"],"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":"MONDO:0002367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kidney cancer","equivalent_identifiers":["MONDO:0002367","DOID:263","UMLS:C0494158","UMLS:C0740457","MESH:D007680","MEDDRA:10023400","MEDDRA:10026008","MEDDRA:10038389","MEDDRA:10056796","MEDDRA:10068208","MEDDRA:10083554","NCIT:C120456","NCIT:C7548","SNOMEDCT:363518003","medgen:149263","ICD10:C64","ICD9:189.0"],"information_content":62.5}
{"id":"MONDO:0002368","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papillary serous cystadenocarcinoma","equivalent_identifiers":["MONDO:0002368","DOID:2632","UMLS:C0334361","UMLS:C3839184","NCIT:C4182","NCIT:C8377","SNOMEDCT:716649003","medgen:825029"],"information_content":89.4}
{"id":"MONDO:0002369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystadenoma","equivalent_identifiers":["MONDO:0002369","DOID:2634","UMLS:C0010633","MESH:D003537","MEDDRA:10011812","MEDDRA:10089160","NCIT:C2972","SNOMEDCT:47620003","medgen:8221"],"information_content":76.0}
{"id":"MONDO:0002370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian Brenner tumor","equivalent_identifiers":["MONDO:0002370","DOID:2636","UMLS:C5234884","MEDDRA:10073271","NCIT:C3872","SNOMEDCT:254859006","medgen:1716777"],"information_content":88.2}
{"id":"MONDO:0002371","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast pericanalicular fibroadenoma","equivalent_identifiers":["MONDO:0002371","DOID:2639","UMLS:C0334497","NCIT:C4272","SNOMEDCT:41382006","medgen:90794"],"information_content":100.0}
{"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":"MONDO:0002380","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoepithelioma","equivalent_identifiers":["MONDO:0002380","DOID:2661","UMLS:C0027070","UMLS:C1947949","MESH:D009208","NCIT:C40392","NCIT:C7442","SNOMEDCT:1295245001","SNOMEDCT:69291002","medgen:10235"],"information_content":77.8}
{"id":"MONDO:0002387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"liver angiosarcoma","equivalent_identifiers":["MONDO:0002387","DOID:268","UMLS:C0345907","MEDDRA:10067388","NCIT:C4438","SNOMEDCT:109844006","medgen:138027","ICD10:C22.3"],"information_content":95.4}
{"id":"MONDO:0002388","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intracystic papillary adenoma","equivalent_identifiers":["MONDO:0002388","DOID:2682","UMLS:C0334374","SNOMEDCT:47488001","medgen:87229"],"information_content":100.0}
{"id":"MONDO:0002398","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucinous adenofibroma","equivalent_identifiers":["MONDO:0002398","DOID:2700","UMLS:C0334499","NCIT:C8978","SNOMEDCT:10705005","medgen:83158"],"information_content":89.4}
{"id":"MONDO:0002399","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tenosynovial giant cell tumor, localized type","equivalent_identifiers":["MONDO:0002399","DOID:2701","UMLS:C0588125","MEDDRA:10082904","NCIT:C6532","SNOMEDCT:703702007","SNOMEDCT:95413004","medgen:154413"],"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":"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: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":"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":"MONDO:0002408","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary hyperbilirubinemia","equivalent_identifiers":["MONDO:0002408","DOID:2741","OMIM.PS:237450","UMLS:C0020435","MESH:D006933","NCIT:C84761","medgen:6963"],"information_content":84.8}
{"id":"MONDO:0002412","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"disorder of glycogen metabolism","equivalent_identifiers":["MONDO:0002412","DOID:0050728","DOID:2747","OMIM.PS:232200","orphanet:79201","UMLS:C0017919","MESH:D006008","MEDDRA:10018463","MEDDRA:10018465","MEDDRA:10018466","MEDDRA:10061990","NCIT:C61272","SNOMEDCT:29633007","medgen:6639","icd11.foundation:1187107383","ICD9:271.0"],"information_content":74.5}
{"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":"MONDO:0002419","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient tic disorder","equivalent_identifiers":["MONDO:0002419","DOID:2768","UMLS:C0040702","NCIT:C116767","SNOMEDCT:56573006","medgen:52814","ICD10:F95.0","ICD9:307.21"],"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":"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:0002423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rectosigmoid junction neoplasm","equivalent_identifiers":["MONDO:0002423","DOID:2780","UMLS:C0345873","NCIT:C4877","SNOMEDCT:126848003","medgen:87517"],"information_content":81.3}
{"id":"MONDO:0002427","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellar disorder","equivalent_identifiers":["MONDO:0002427","DOID:2786","UMLS:C0007760","MESH:D002526","MEDDRA:10051087","SNOMEDCT:223176004","medgen:40186"],"information_content":64.4}
{"id":"MONDO:0002436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasal disorder","equivalent_identifiers":["MONDO:0002436","DOID:2825","UMLS:C0028432","MESH:D009668","MEDDRA:10052355","MEDDRA:10062209","SNOMEDCT:89488007","medgen:10385"],"information_content":70.3}
{"id":"MONDO:0002438","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired polycythemia","equivalent_identifiers":["MONDO:0002438","DOID:2834","ICD9:289.0"],"information_content":88.2}
{"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:0002442","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long QT syndrome","equivalent_identifiers":["MONDO:0002442","DOID:2843","UMLS:C0023976","MESH:D008133","MEDDRA:10024803","NCIT:C34786","SNOMEDCT:9651007","medgen:44193","ICD10:I45.81","ICD9:426.82"],"information_content":78.3}
{"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":"MONDO:0002450","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostatic adenoma","equivalent_identifiers":["MONDO:0002450","DOID:2883","UMLS:C0520477","MEDDRA:10036906","MEDDRA:10036940","NCIT:C4795","SNOMEDCT:21173002","medgen:105447"],"information_content":100.0}
{"id":"MONDO:0002453","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retrocochlear disease","equivalent_identifiers":["MONDO:0002453","DOID:2889","UMLS:C0035352","MESH:D012181","medgen:11216"],"information_content":89.4}
{"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: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: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:0002464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lacrimal gland cancer","equivalent_identifiers":["MONDO:0002464","DOID:294","UMLS:C0153627","MEDDRA:10026031","NCIT:C3563","SNOMEDCT:127004000","SNOMEDCT:188272000","medgen:56315","ICD9:190.2"],"information_content":81.7}
{"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":"MONDO:0002470","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"photosensitive trichothiodystrophy","equivalent_identifiers":["MONDO:0002470","DOID:2960","UMLS:C1848412","MESH:C564733","medgen:336339"],"information_content":90.9}
{"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":"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: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":"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:0002480","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometrioid tumor","equivalent_identifiers":["MONDO:0002480","DOID:3001","EFO:0009118","UMLS:C0474809","NCIT:C7113","SNOMEDCT:253013001","medgen:105374"],"information_content":69.0}
{"id":"MONDO:0002485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast neuroendocrine neoplasm","equivalent_identifiers":["MONDO:0002485","DOID:3009","UMLS:C1332635","NCIT:C5169","medgen:231969"],"information_content":85.5}
{"id":"MONDO:0002486","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lobular neoplasia","equivalent_identifiers":["MONDO:0002486","DOID:3010","UMLS:C0861352","MEDDRA:10024756","NCIT:C27939","medgen:167824"],"information_content":84.2}
{"id":"MONDO:0002491","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"substance abuse","equivalent_identifiers":["MONDO:0002491","DOID:302","UMLS:C0013146","UMLS:C0740858","MEDDRA:10013654","MEDDRA:10013655","MEDDRA:10066169","NCIT:C16522","SNOMEDCT:66214007","medgen:152849"],"information_content":85.5}
{"id":"MONDO:0002493","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostatic acinar adenocarcinoma","equivalent_identifiers":["MONDO:0002493","DOID:3024","UMLS:C1332139","NCIT:C5596","medgen:231350"],"information_content":82.6}
{"id":"MONDO:0002503","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult astrocytic tumor","equivalent_identifiers":["MONDO:0002503","DOID:3076","UMLS:C1332183","NCIT:C7049","medgen:272290"],"information_content":80.2}
{"id":"MONDO:0002505","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood astrocytic tumor","equivalent_identifiers":["MONDO:0002505","DOID:3079","UMLS:C1321865","NCIT:C9022","medgen:272112"],"information_content":74.1}
{"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: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":"MONDO:0002509","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-specific granulomatous orchitis","equivalent_identifiers":["MONDO:0002509","DOID:3089","UMLS:C0436545","NCIT:C27162","SNOMEDCT:50390006","medgen:98504"],"information_content":100.0}
{"id":"MONDO:0002512","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papillary adenocarcinoma","equivalent_identifiers":["MONDO:0002512","DOID:3112","UMLS:C0001420","MESH:D000231","NCIT:C2853","SNOMEDCT:4797003","medgen:123"],"information_content":68.5}
{"id":"MONDO:0002519","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anus disorder","equivalent_identifiers":["MONDO:0002519","DOID:3128","EFO:0009660","UMLS:C0003462","MESH:D001004","MEDDRA:10002151","MEDDRA:10002852","MEDDRA:10013189","NCIT:C26695","SNOMEDCT:32110003","medgen:359"],"information_content":68.5}
{"id":"MONDO:0002522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tenosynovial giant cell tumor","equivalent_identifiers":["MONDO:0002522","DOID:314","EFO:1000562","UMLS:C1318543","MESH:D000070779","MEDDRA:10018253","MEDDRA:10018254","MEDDRA:10018255","MEDDRA:10062856","MEDDRA:10087543","MEDDRA:10087544","NCIT:C3402","SNOMEDCT:128777004","SNOMEDCT:310605004","medgen:232927","ICD9:727.02"],"information_content":89.4}
{"id":"MONDO:0002523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucinoses","equivalent_identifiers":["MONDO:0002523","DOID:3141","UMLS:C0162855","UMLS:C1274171","MESH:D017520","SNOMEDCT:11528001","SNOMEDCT:402721001","medgen:56520","icd11.foundation:2018255084"],"information_content":80.6}
{"id":"MONDO:0002525","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inherited lipid metabolism disorder","equivalent_identifiers":["MONDO:0002525","DOID:3146","orphanet:309005","UMLS:C0023772","UMLS:C0154251","UMLS:C1274229","MESH:D008052","MESH:D052439","MEDDRA:10013317","MEDDRA:10024582","MEDDRA:10045807","MEDDRA:10059674","MEDDRA:10061227","MEDDRA:10072272","NCIT:C97092","SNOMEDCT:267431006","SNOMEDCT:402788005","medgen:57587"],"information_content":62.5}
{"id":"MONDO:0002528","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"synovium neoplasm","equivalent_identifiers":["MONDO:0002528","DOID:315","UMLS:C0476203","NCIT:C8964","medgen:99197"],"information_content":84.2}
{"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":"MONDO:0002532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"squamous cell neoplasm","equivalent_identifiers":["MONDO:0002532","DOID:3168","UMLS:C0206720","MESH:D018307","NCIT:C3792","SNOMEDCT:118286007","medgen:60219"],"information_content":56.1}
{"id":"MONDO:0002535","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"verrucous papilloma","equivalent_identifiers":["MONDO:0002535","DOID:3177","UMLS:C0334243","NCIT:C4101","SNOMEDCT:48218007","medgen:83114"],"information_content":100.0}
{"id":"MONDO:0002537","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inverted papilloma","equivalent_identifiers":["MONDO:0002537","DOID:3179","UMLS:C0206721","MESH:D018308","NCIT:C3793","SNOMEDCT:104081000119103","medgen:61668"],"information_content":80.6}
{"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: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":"MONDO:0002553","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebellopontine angle tumor","equivalent_identifiers":["MONDO:0002553","DOID:3200","UMLS:C0474740","MEDDRA:10069726","MEDDRA:10069745","NCIT:C5414","SNOMEDCT:126947009","medgen:99181"],"information_content":90.9}
{"id":"MONDO:0002555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trigeminal schwannoma","equivalent_identifiers":["MONDO:0002555","DOID:3202","UMLS:C0349582","NCIT:C4655","SNOMEDCT:277185000","medgen:83890"],"information_content":100.0}
{"id":"MONDO:0002558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"melanotic neurilemmoma","equivalent_identifiers":["MONDO:0002558","DOID:3205","UMLS:C1306247","NCIT:C6970","SNOMEDCT:253088003","SNOMEDCT:404024000","medgen:266292"],"information_content":89.4}
{"id":"MONDO:0002561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lysosomal storage disease","equivalent_identifiers":["MONDO:0002561","DOID:3211","orphanet:68366","UMLS:C0085078","UMLS:C5848368","MESH:D016464","MEDDRA:10024579","MEDDRA:10086694","NCIT:C61250","SNOMEDCT:23585005","SNOMEDCT:28821000119102","medgen:43098","icd11.foundation:656131403"],"information_content":66.3}
{"id":"MONDO:0002562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"demyelinating disease","equivalent_identifiers":["MONDO:0002562","DOID:3213","UMLS:C0011303","MESH:D003711","MEDDRA:10012303","MEDDRA:10048425","NCIT:C34527","medgen:4189"],"information_content":76.2}
{"id":"MONDO:0002564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"jejunal neoplasm","equivalent_identifiers":["MONDO:0002564","DOID:3218","UMLS:C0022374","MESH:D007580","NCIT:C8401","SNOMEDCT:126834003","medgen:7187"],"information_content":82.1}
{"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: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":"MONDO:0002569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastric dilatation","equivalent_identifiers":["MONDO:0002569","DOID:3229","UMLS:C0038353","MESH:D013271","MEDDRA:10013005","MEDDRA:10013008","MEDDRA:10013015","MEDDRA:10017779","MEDDRA:10042100","MEDDRA:10069737","medgen:11602"],"information_content":100.0}
{"id":"MONDO:0002570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"high pressure neurological syndrome","equivalent_identifiers":["MONDO:0002570","DOID:3230","UMLS:C0019537","MESH:D006610","medgen:5553"],"information_content":95.4}
{"id":"MONDO:0002571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary central nervous system lymphoma","equivalent_identifiers":["MONDO:0002571","DOID:3234","orphanet:46135","EFO:1000157","UMLS:C0280803","UMLS:C0742472","UMLS:C5886912","MEDDRA:10007953","MEDDRA:10036685","NCIT:C9301","SNOMEDCT:307649006","medgen:79187","icd11.foundation:1133193893","ICD9:200.5","HP:0030069"],"information_content":76.0}
{"id":"MONDO:0002583","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucinous ovarian cystadenoma","equivalent_identifiers":["MONDO:0002583","DOID:3267","UMLS:C0346172","NCIT:C4512","SNOMEDCT:119422004","medgen:91088"],"information_content":100.0}
{"id":"MONDO:0002594","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monkeypox","equivalent_identifiers":["MONDO:0002594","DOID:3292","UMLS:C0276180","MESH:D045908","MEDDRA:10069538","MEDDRA:10088911","NCIT:C128421","SNOMEDCT:359814004","medgen:124442","ICD10:B04","ICD9:059.01"],"information_content":100.0}
{"id":"MONDO:0002595","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vaccinia","equivalent_identifiers":["MONDO:0002595","DOID:3298","UMLS:C0042214","MESH:D014615","MEDDRA:10066048","SNOMEDCT:111852003","medgen:52964","icd11.foundation:1275065853"],"information_content":100.0}
{"id":"MONDO:0002598","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"germinoma","equivalent_identifiers":["MONDO:0002598","DOID:3304","UMLS:C0206660","MESH:D018237","MEDDRA:10018207","SNOMEDCT:28307001","medgen:64626","HP:0100620"],"information_content":86.3}
{"id":"MONDO:0002599","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"teratocarcinoma","equivalent_identifiers":["MONDO:0002599","DOID:3305","UMLS:C0206664","MESH:D018243","NCIT:C3756","SNOMEDCT:67830002","medgen:104913"],"information_content":87.2}
{"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":"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:0002603","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angiomyolipoma","equivalent_identifiers":["MONDO:0002603","DOID:3314","UMLS:C0206633","MESH:D018207","MEDDRA:10051810","SNOMEDCT:1293131004","SNOMEDCT:19929002","medgen:64622"],"information_content":89.4}
{"id":"MONDO:0002605","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatic angiomyolipoma","equivalent_identifiers":["MONDO:0002605","DOID:3317","UMLS:C1333962","MEDDRA:10086570","NCIT:C27485","SNOMEDCT:1196904007","medgen:272705","HP:0034832"],"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":"MONDO:0002612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontal lobe epilepsy","equivalent_identifiers":["MONDO:0002612","DOID:3331","UMLS:C0085541","MESH:D017034","MEDDRA:10049424","SNOMEDCT:230394006","medgen:39074"],"information_content":84.2}
{"id":"MONDO:0002613","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"histrionic personality disorder","equivalent_identifiers":["MONDO:0002613","DOID:334","UMLS:C0019681","MESH:D006677","MEDDRA:10020154","MEDDRA:10020155","MEDDRA:10020156","MEDDRA:10021164","MEDDRA:10021165","NCIT:C92634","SNOMEDCT:55341008","medgen:9276","icd11.foundation:953661315","ICD10:F60.4","ICD9:301.5","HP:0012077"],"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:0002616","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesenchymal cell neoplasm","equivalent_identifiers":["MONDO:0002616","DOID:3350","UMLS:C1332517","UMLS:C1334699","NCIT:C6587","NCIT:C7059","medgen:277359"],"information_content":52.4}
{"id":"MONDO:0002619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone fibrosarcoma","equivalent_identifiers":["MONDO:0002619","DOID:3354","UMLS:C2733623","NCIT:C6604","medgen:404782"],"information_content":100.0}
{"id":"MONDO:0002624","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone leiomyosarcoma","equivalent_identifiers":["MONDO:0002624","DOID:3367","UMLS:C1332579","NCIT:C7154","medgen:234043"],"information_content":100.0}
{"id":"MONDO:0002627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondroblastic osteosarcoma","equivalent_identifiers":["MONDO:0002627","DOID:3372","UMLS:C0279603","MEDDRA:10008740","NCIT:C4021","SNOMEDCT:76312009","medgen:79013"],"information_content":100.0}
{"id":"MONDO:0002630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"small cell osteogenic sarcoma","equivalent_identifiers":["MONDO:0002630","DOID:3377","UMLS:C0279622","NCIT:C4023","SNOMEDCT:12302002","SNOMEDCT:1290893002","medgen:83532"],"information_content":100.0}
{"id":"MONDO:0002635","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periodontal disorder","equivalent_identifiers":["MONDO:0002635","DOID:3388","UMLS:C0031090","MESH:D010510","MEDDRA:10034536","MEDDRA:10034537","NCIT:C63743","SNOMEDCT:2556008","medgen:10658","ICD10:K05.6"],"information_content":74.1}
{"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:0002641","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subclavian artery aneurysm","equivalent_identifiers":["MONDO:0002641","DOID:342","UMLS:C0155746","MEDDRA:10002359","MEDDRA:10042331","SNOMEDCT:40136003","medgen:510068","ICD9:442.82"],"information_content":100.0}
{"id":"MONDO:0002643","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vestibular disorder","equivalent_identifiers":["MONDO:0002643","DOID:3426","EFO:0009691","UMLS:C0042594","MESH:D015837","MEDDRA:10013285","MEDDRA:10047386","MEDDRA:10047387","MEDDRA:10047388","medgen:12079","ICD10:H81.9"],"information_content":84.8}
{"id":"MONDO:0002645","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebritis","equivalent_identifiers":["MONDO:0002645","DOID:3431","UMLS:C0742115","MEDDRA:10054860","NCIT:C27199","medgen:149273"],"information_content":100.0}
{"id":"MONDO:0002646","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"viral laryngitis","equivalent_identifiers":["MONDO:0002646","DOID:3436","UMLS:C0853195","MEDDRA:10023880","MEDDRA:10023881","MEDDRA:10047467","NCIT:C27305","SNOMEDCT:441551009","medgen:167276"],"information_content":100.0}
{"id":"MONDO:0002647","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngitis","equivalent_identifiers":["MONDO:0002647","DOID:3437","UMLS:C0023067","MESH:D007827","MEDDRA:10023874","MEDDRA:10023879","MEDDRA:10065735","NCIT:C26811","SNOMEDCT:45913009","medgen:7273"],"information_content":86.3}
{"id":"MONDO:0002648","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mammary Paget disease","equivalent_identifiers":["MONDO:0002648","DOID:3443","UMLS:C0030185","MESH:D010144","MEDDRA:10033367","NCIT:C47857","SNOMEDCT:2985005","medgen:18263"],"information_content":88.2}
{"id":"MONDO:0002654","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uterine disease","equivalent_identifiers":["MONDO:0002654","DOID:345","UMLS:C0042131","MESH:D014591","MEDDRA:10045837","MEDDRA:10046779","MEDDRA:10046781","NCIT:C26907","SNOMEDCT:12337004","medgen:22590","ICD10:N85.9","ICD9:621.9"],"information_content":55.9}
{"id":"MONDO:0002657","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast disorder","equivalent_identifiers":["MONDO:0002657","DOID:3463","EFO:0009483","UMLS:C0006145","MESH:D001941","MEDDRA:10006231","MEDDRA:10006232","MEDDRA:10045645","MEDDRA:10058702","MEDDRA:10061021","NCIT:C26709","SNOMEDCT:79604008","medgen:652","ICD10:N64.9","ICD9:610-612.99"],"information_content":56.0}
{"id":"MONDO:0002659","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uveal cancer","equivalent_identifiers":["MONDO:0002659","DOID:3479","EFO:1001230","UMLS:C3665670","NCIT:C6105","medgen:1772018"],"information_content":70.6}
{"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:0002661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uveal disorder","equivalent_identifiers":["MONDO:0002661","DOID:3480","UMLS:C0042161","MESH:D014603","NCIT:C26908","SNOMEDCT:95678007","medgen:21804"],"information_content":68.0}
{"id":"MONDO:0002680","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic wasting disease","equivalent_identifiers":["MONDO:0002680","DOID:3530","UMLS:C1135993","MESH:D034081"],"information_content":100.0}
{"id":"MONDO:0002684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical choroid plexus papilloma","equivalent_identifiers":["MONDO:0002684","DOID:3544","orphanet:251902","UMLS:C1266176","NCIT:C53686","SNOMEDCT:1156470000","SNOMEDCT:128904001","medgen:220431","icd11.foundation:1640044333"],"information_content":95.4}
{"id":"MONDO:0002687","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"superior mesenteric artery syndrome","equivalent_identifiers":["MONDO:0002687","DOID:3557","orphanet:622099","EFO:1001201","UMLS:C0038828","MESH:D013478","MEDDRA:10054156","NCIT:C85175","SNOMEDCT:197006009","medgen:21404"],"information_content":100.0}
{"id":"MONDO:0002688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"duodenal obstruction","equivalent_identifiers":["MONDO:0002688","DOID:3558","EFO:1000908","UMLS:C0013292","MESH:D004380","MEDDRA:10013830","MEDDRA:10029955","NCIT:C79548","SNOMEDCT:95532008","medgen:4417"],"information_content":90.9}
{"id":"MONDO:0002691","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"liver cancer","equivalent_identifiers":["MONDO:0002691","DOID:3571","UMLS:C0024620","UMLS:C0345904","UMLS:C0854795","MEDDRA:10007090","MEDDRA:10007091","MEDDRA:10019697","MEDDRA:10019699","MEDDRA:10019701","MEDDRA:10019703","MEDDRA:10019711","MEDDRA:10024720","MEDDRA:10024722","MEDDRA:10024727","MEDDRA:10025572","MEDDRA:10025575","MEDDRA:10025623","MEDDRA:10025626","MEDDRA:10025627","MEDDRA:10025630","MEDDRA:10026080","MEDDRA:10026081","MEDDRA:10036681","MEDDRA:10036709","MEDDRA:10073069","MEDDRA:10073832","NCIT:C190593","NCIT:C34803","NCIT:C7692","SNOMEDCT:93870000","SNOMEDCT:95214007","medgen:87520","ICD10:C22.0","ICD10:C22.9","ICD9:155.0","ICD9:155.2"],"information_content":61.2}
{"id":"MONDO:0002693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lateral sinus thrombosis","equivalent_identifiers":["MONDO:0002693","DOID:3574","UMLS:C0270639","MESH:D020227","MEDDRA:10044457","SNOMEDCT:192761004","SNOMEDCT:21258007","medgen:124359"],"information_content":100.0}
{"id":"MONDO:0002695","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sagittal sinus thrombosis","equivalent_identifiers":["MONDO:0002695","DOID:3576","UMLS:C0338575","MESH:D020225","MEDDRA:10039369","MEDDRA:10042567","SNOMEDCT:192760003","SNOMEDCT:70607008","medgen:90927"],"information_content":100.0}
{"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:0002706","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervix endometriosis","equivalent_identifiers":["MONDO:0002706","DOID:361","UMLS:C0269107","MEDDRA:10083458","NCIT:C27623","SNOMEDCT:61640006","medgen:78705","HP:0012889"],"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:0002710","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infiltrating angiolipoma","equivalent_identifiers":["MONDO:0002710","DOID:3615","UMLS:C1305256","NCIT:C7449","medgen:227009"],"information_content":100.0}
{"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:0002715","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uterine cancer","equivalent_identifiers":["MONDO:0002715","DOID:363","UMLS:C0153567","MESH:D014594","MEDDRA:10026618","MEDDRA:10046766","MEDDRA:10046767","NCIT:C3552","SNOMEDCT:371973000","medgen:57791","ICD10:C55","ICD9:179"],"information_content":57.1}
{"id":"MONDO:0002724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mast cell neoplasm","equivalent_identifiers":["MONDO:0002724","DOID:3664","EFO:0009000","UMLS:C0334664","NCIT:C9295","SNOMEDCT:414653009","medgen:83178"],"information_content":77.3}
{"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: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:0002732","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung benign neoplasm","equivalent_identifiers":["MONDO:0002732","DOID:3683","UMLS:C0345963","MEDDRA:10004280","NCIT:C4454","SNOMEDCT:92196005","medgen:83393"],"information_content":77.8}
{"id":"MONDO:0002751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bladder adenocarcinoma","equivalent_identifiers":["MONDO:0002751","DOID:3711","EFO:1000125","UMLS:C0279682","MEDDRA:10004985","NCIT:C39836","NCIT:C4032","SNOMEDCT:255110003","medgen:76014"],"information_content":80.9}
{"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:0002770","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vaginal discharge","equivalent_identifiers":["MONDO:0002770","DOID:3767","EFO:0009365","UMLS:C0227791","UMLS:C0566969","UMLS:C0566986","MESH:D019522","MEDDRA:10013069","MEDDRA:10046901","MEDDRA:10058695","MEDDRA:10078231","NCIT:C50795","SNOMEDCT:271939006","SNOMEDCT:289567003","medgen:65302","icd11.foundation:2123556104","HP:0034269"],"information_content":76.0}
{"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:0002775","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anovulation","equivalent_identifiers":["MONDO:0002775","DOID:3781","UMLS:C0003128","MESH:D000858","MEDDRA:10002658","MEDDRA:10033311","NCIT:C34388","SNOMEDCT:34571000","medgen:1951","icd11.foundation:563648258"],"information_content":95.4}
{"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:0002783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Shwartzman phenomenon","equivalent_identifiers":["MONDO:0002783","DOID:3825","UMLS:C0037018","MESH:D012790","SNOMEDCT:24453002","medgen:48656"],"information_content":100.0}
{"id":"MONDO:0002790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"seminal vesicle tumor","equivalent_identifiers":["MONDO:0002790","DOID:3855","UMLS:C0341767","NCIT:C39908","SNOMEDCT:236740006","medgen:90967"],"information_content":82.1}
{"id":"MONDO:0002791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"large cell medulloblastoma","equivalent_identifiers":["MONDO:0002791","DOID:3857","EFO:0008508","UMLS:C1266180","NCIT:C6904","SNOMEDCT:128790006","medgen:226852"],"information_content":100.0}
{"id":"MONDO:0002794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult medulloblastoma","equivalent_identifiers":["MONDO:0002794","DOID:3864","UMLS:C0278876","NCIT:C4011","medgen:78898"],"information_content":100.0}
{"id":"MONDO:0002797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood medulloblastoma","equivalent_identifiers":["MONDO:0002797","DOID:3869","UMLS:C0278510","NCIT:C3997","medgen:75829"],"information_content":83.6}
{"id":"MONDO:0002798","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood central nervous system primitive neuroectodermal neoplasm","equivalent_identifiers":["MONDO:0002798","DOID:3870","UMLS:C1332957","NCIT:C5961","medgen:232347"],"information_content":90.9}
{"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:0002801","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colonic pseudo-obstruction","equivalent_identifiers":["MONDO:0002801","DOID:3876","EFO:1000871","UMLS:C0009377","UMLS:C1527395","MESH:D003112","MEDDRA:10052447","MEDDRA:10052504","MEDDRA:10057078","SNOMEDCT:35065006","SNOMEDCT:721680006","medgen:3167"],"information_content":100.0}
{"id":"MONDO:0002804","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"apocrine adenoma","equivalent_identifiers":["MONDO:0002804","DOID:3895","UMLS:C0334345","UMLS:C5970487","MEDDRA:10072669","NCIT:C27527","NCIT:C4168","SNOMEDCT:307596009","SNOMEDCT:36318001","medgen:90767"],"information_content":89.4}
{"id":"MONDO:0002805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hidradenoma","equivalent_identifiers":["MONDO:0002805","DOID:3896","UMLS:C5848251","NCIT:C7563","medgen:1851798"],"information_content":86.3}
{"id":"MONDO:0002807","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bronchial neoplasm","equivalent_identifiers":["MONDO:0002807","DOID:3906","EFO:1000849","UMLS:C0006264","MESH:D001984","MEDDRA:10052245","SNOMEDCT:126705004","medgen:2735","HP:0030077"],"information_content":84.2}
{"id":"MONDO:0002808","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic serous cystadenoma","equivalent_identifiers":["MONDO:0002808","DOID:3917","UMLS:C1335316","MEDDRA:10071700","NCIT:C5712","SNOMEDCT:690761000119100","medgen:233833"],"information_content":92.8}
{"id":"MONDO:0002814","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenal carcinoma","equivalent_identifiers":["MONDO:0002814","DOID:3950","MESH:D018268"],"information_content":88.2}
{"id":"MONDO:0002816","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenal cortex disorder","equivalent_identifiers":["MONDO:0002816","DOID:3952","UMLS:C0001614","MESH:D000303","SNOMEDCT:129636003","medgen:154"],"information_content":74.1}
{"id":"MONDO:0002817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Adrenal Cancer","equivalent_identifiers":["MONDO:0002817","DOID:3953","UMLS:C0750887","MESH:D000310","MEDDRA:10001378","MEDDRA:10025696","MEDDRA:10026520","MEDDRA:10073152","NCIT:C9338","SNOMEDCT:363355002","medgen:152909","ICD10:C74","ICD9:194.0"],"information_content":72.9}
{"id":"MONDO:0002831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-keratinizing sinonasal squamous cell carcinoma","equivalent_identifiers":["MONDO:0002831","DOID:4003","UMLS:C0334270","NCIT:C54287","SNOMEDCT:5600009","medgen:83119"],"information_content":92.8}
{"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:0002843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fungal gastritis","equivalent_identifiers":["MONDO:0002843","DOID:4034","UMLS:C0948638","MEDDRA:10051351","MEDDRA:10061972","NCIT:C27342","SNOMEDCT:723097009","medgen:181761"],"information_content":100.0}
{"id":"MONDO:0002847","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skeletal muscle cancer","equivalent_identifiers":["MONDO:0002847","DOID:4043","UMLS:C1334619","NCIT:C6516","medgen:233669"],"information_content":67.4}
{"id":"MONDO:0002848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skeletal muscle neoplasm","equivalent_identifiers":["MONDO:0002848","DOID:4044","UMLS:C1335971","NCIT:C6514","SNOMEDCT:699955004","medgen:236817"],"information_content":66.6}
{"id":"MONDO:0002855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectomesenchymoma","equivalent_identifiers":["MONDO:0002855","DOID:4055","UMLS:C0431111","NCIT:C4716","SNOMEDCT:128750008","SNOMEDCT:1295216003","medgen:98123"],"information_content":92.8}
{"id":"MONDO:0002859","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast rhabdomyosarcoma","equivalent_identifiers":["MONDO:0002859","DOID:4060","UMLS:C1332637","NCIT:C5190","medgen:231970"],"information_content":100.0}
{"id":"MONDO:0002866","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"duodenal disorder","equivalent_identifiers":["MONDO:0002866","DOID:4072","UMLS:C0013289","MESH:D004378","SNOMEDCT:52182008","medgen:8502"],"information_content":76.5}
{"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":"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":"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":"MONDO:0002885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythrasma","equivalent_identifiers":["MONDO:0002885","DOID:4131","EFO:1000696","UMLS:C0014752","UMLS:C2364003","MESH:D004894","MEDDRA:10015248","SNOMEDCT:238418005","SNOMEDCT:264207005","medgen:4529","icd11.foundation:272312002","ICD10:L08.1"],"information_content":100.0}
{"id":"MONDO:0002892","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skull base chordoma","equivalent_identifiers":["MONDO:0002892","DOID:4151","UMLS:C1335975","NCIT:C5453","medgen:233448"],"information_content":86.3}
{"id":"MONDO:0002896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary syphilis","equivalent_identifiers":["MONDO:0002896","DOID:4156","UMLS:C0153139","UMLS:C2931317","MESH:C536772","MEDDRA:10014059","MEDDRA:10056884","NCIT:C128412","SNOMEDCT:186846005","SNOMEDCT:266127002","medgen:419772","ICD9:091"],"information_content":100.0}
{"id":"MONDO:0002898","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin cancer","equivalent_identifiers":["MONDO:0002898","DOID:4159","UMLS:C0007114","MEDDRA:10007115","MEDDRA:10026693","MEDDRA:10040808","MEDDRA:10040890","MEDDRA:10040895","MEDDRA:10040896","MEDDRA:10040900","NCIT:C2920","SNOMEDCT:372130007","medgen:40101"],"information_content":59.6}
{"id":"MONDO:0002901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blood group incompatibility","equivalent_identifiers":["MONDO:0002901","DOID:4176","UMLS:C0005806","MESH:D001787","MEDDRA:10078985","medgen:609"],"information_content":95.4}
{"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":"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":"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":"MONDO:0002910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peroneal neuropathy","equivalent_identifiers":["MONDO:0002910","DOID:4201","UMLS:C0747533","MESH:D020427","NCIT:C27596","medgen:148182"],"information_content":100.0}
{"id":"MONDO:0002917","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hair disease","equivalent_identifiers":["MONDO:0002917","DOID:421","UMLS:C0018500","UMLS:C0554472","MESH:D006201","MEDDRA:10013226","MEDDRA:10019037","MEDDRA:10019038","MEDDRA:10045747","NCIT:C34656","SNOMEDCT:201128002","SNOMEDCT:279425004","medgen:640417"],"information_content":68.0}
{"id":"MONDO:0002918","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"clear cell meningioma","equivalent_identifiers":["MONDO:0002918","DOID:4210","EFO:1000180","UMLS:C0431121","NCIT:C4722","SNOMEDCT:57606003","medgen:98459"],"information_content":92.8}
{"id":"MONDO:0002919","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior cranial fossa meningioma","equivalent_identifiers":["MONDO:0002919","DOID:4211","UMLS:C1565950","NCIT:C6775","medgen:290609"],"information_content":88.2}
{"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:0002927","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spindle cell sarcoma","equivalent_identifiers":["MONDO:0002927","DOID:4235","UMLS:C0205945","MEDDRA:10049067","NCIT:C27005","SNOMEDCT:9801004","medgen:64477"],"information_content":84.2}
{"id":"MONDO:0002928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carcinosarcoma","equivalent_identifiers":["MONDO:0002928","DOID:4236","EFO:1001371","UMLS:C0007140","UMLS:C0206627","UMLS:C1334603","MESH:D002296","MESH:D018199","MESH:D018200","NCIT:C34448","NCIT:C3730","NCIT:C8975","SNOMEDCT:112684005","SNOMEDCT:63264007","medgen:2876"],"information_content":70.2}
{"id":"MONDO:0002929","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary immaturity","equivalent_identifiers":["MONDO:0002929","DOID:424","UMLS:C0270163","SNOMEDCT:42908004","medgen:542574","ICD10:P28.0","ICD9:770.4"],"information_content":100.0}
{"id":"MONDO:0002930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kidney sarcoma","equivalent_identifiers":["MONDO:0002930","DOID:4242","UMLS:C0346251","NCIT:C4525","SNOMEDCT:254918001","medgen:87548","HP:0008663"],"information_content":80.2}
{"id":"MONDO:0002931","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conjunctivochalasis","equivalent_identifiers":["MONDO:0002931","DOID:4250","UMLS:C0878693","UMLS:C1578851","MEDDRA:10064132","SNOMEDCT:408663001","medgen:678824","icd11.foundation:870876723","ICD10:H11.82","ICD9:372.81"],"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":"MONDO:0002937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nodular basal cell carcinoma","equivalent_identifiers":["MONDO:0002937","DOID:4280","UMLS:C0862887","UMLS:C1304300","UMLS:C1879347","UMLS:C4083056","MEDDRA:10029496","MEDDRA:10073093","NCIT:C5568","NCIT:C5616","NCIT:C62282","SNOMEDCT:128636006","SNOMEDCT:403910009","SNOMEDCT:403911008","SNOMEDCT:716274007","medgen:908229"],"information_content":87.2}
{"id":"MONDO:0002939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin pigmented basal cell carcinoma","equivalent_identifiers":["MONDO:0002939","DOID:4282","UMLS:C1368275","MEDDRA:10035029","NCIT:C9359","SNOMEDCT:399585007","SNOMEDCT:403909004","medgen:237149"],"information_content":100.0}
{"id":"MONDO:0002959","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radiculopathy","equivalent_identifiers":["MONDO:0002959","DOID:4306","UMLS:C0700594","UMLS:C1527351","MESH:D011843","MEDDRA:10037779","MEDDRA:10037780","MEDDRA:10041587","MEDDRA:10052442","SNOMEDCT:72274001","medgen:147133","icd11.foundation:1802542189","ICD10:M54.1"],"information_content":100.0}
{"id":"MONDO:0002960","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyradiculopathy","equivalent_identifiers":["MONDO:0002960","DOID:4307","UMLS:C0032586","MESH:D011128","MEDDRA:10036140","NCIT:C34934","SNOMEDCT:75572007","medgen:46011"],"information_content":100.0}
{"id":"MONDO:0002961","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"large cell acanthoma","equivalent_identifiers":["MONDO:0002961","DOID:4321","UMLS:C1334362","NCIT:C27518","SNOMEDCT:1295377001","SNOMEDCT:733894009","medgen:235249"],"information_content":100.0}
{"id":"MONDO:0002962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolytic acanthoma","equivalent_identifiers":["MONDO:0002962","DOID:4323","UMLS:C1333414","NCIT:C27516","SNOMEDCT:733892008","medgen:272577"],"information_content":100.0}
{"id":"MONDO:0002963","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acantholytic acanthoma","equivalent_identifiers":["MONDO:0002963","DOID:4324","UMLS:C1301270","NCIT:C27517","SNOMEDCT:397188008","medgen:220970"],"information_content":100.0}
{"id":"MONDO:0002967","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tinea capitis","equivalent_identifiers":["MONDO:0002967","DOID:4337","UMLS:C0011640","MEDDRA:10012514","NCIT:C34536","SNOMEDCT:266148000","medgen:4237","ICD9:110.0"],"information_content":100.0}
{"id":"MONDO:0002968","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphocele","equivalent_identifiers":["MONDO:0002968","DOID:4347","UMLS:C0024248","MESH:D008210","MEDDRA:10048642","MEDDRA:10052356","NCIT:C78442","SNOMEDCT:12167004","SNOMEDCT:234109007","SNOMEDCT:234110002","medgen:7414","icd11.foundation:1806199285"],"information_content":95.4}
{"id":"MONDO:0002970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ciliary body disorder","equivalent_identifiers":["MONDO:0002970","DOID:4353","UMLS:C0271100","MEDDRA:10057415","NCIT:C35775","SNOMEDCT:68575007","medgen:124384"],"information_content":79.3}
{"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:0002984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"reticulohistiocytic granuloma","equivalent_identifiers":["MONDO:0002984","DOID:4394","UMLS:C0035290","NCIT:C3356","SNOMEDCT:15960008","SNOMEDCT:404162004","medgen:48431"],"information_content":100.0}
{"id":"MONDO:0002989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign fibrous histiocytoma","equivalent_identifiers":["MONDO:0002989","DOID:4415","UMLS:C0206644","MESH:D018219","MEDDRA:10053717","MEDDRA:10069780","NCIT:C3739","SNOMEDCT:25889007","medgen:60199"],"information_content":83.6}
{"id":"MONDO:0002998","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skull base meningioma","equivalent_identifiers":["MONDO:0002998","DOID:4437","UMLS:C1335976","NCIT:C5272","medgen:233449"],"information_content":80.2}
{"id":"MONDO:0003000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central nervous system germ cell tumor","equivalent_identifiers":["MONDO:0003000","DOID:4439","UMLS:C1332880","NCIT:C5461","medgen:232040"],"information_content":73.1}
{"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: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: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":"MONDO:0003007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood kidney cell carcinoma","equivalent_identifiers":["MONDO:0003007","DOID:4454","UMLS:C1333001","NCIT:C6568","medgen:232070"],"information_content":90.9}
{"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":"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":"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":"MONDO:0003024","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast angiosarcoma","equivalent_identifiers":["MONDO:0003024","DOID:4511","UMLS:C1332614","MESH:C536368","MEDDRA:10072813","NCIT:C5184","medgen:272382"],"information_content":90.9}
{"id":"MONDO:0003036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucoepidermoid carcinoma","equivalent_identifiers":["MONDO:0003036","DOID:4531","UMLS:C0206694","UMLS:C0206712","MESH:D018277","MESH:D018298","MEDDRA:10057269","NCIT:C3772","SNOMEDCT:127571003","SNOMEDCT:4079000","medgen:61662","icd11.foundation:287052516"],"information_content":74.5}
{"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":"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":"MONDO:0003040","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retrograde amnesia","equivalent_identifiers":["MONDO:0003040","DOID:4543","UMLS:C0002624","MESH:D000648","MEDDRA:10038965","NCIT:C34372","SNOMEDCT:51921000","medgen:264","icd11.foundation:1405777748","ICD10:R41.2","HP:0033690"],"information_content":92.8}
{"id":"MONDO:0003046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anus neoplasm","equivalent_identifiers":["MONDO:0003046","DOID:4551","EFO:0003835","UMLS:C0003463","MESH:D001005","MEDDRA:10002164","MEDDRA:10061629","NCIT:C2877","SNOMEDCT:126849006","medgen:360","HP:0032186"],"information_content":69.4}
{"id":"MONDO:0003052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulomatous endometritis","equivalent_identifiers":["MONDO:0003052","DOID:4561","UMLS:C1333876","NCIT:C27626","medgen:234322"],"information_content":100.0}
{"id":"MONDO:0003054","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign meningioma","equivalent_identifiers":["MONDO:0003054","DOID:4587","UMLS:C0281784","MEDDRA:10004290","MEDDRA:10027192","MEDDRA:10027195","NCIT:C4055","SNOMEDCT:1157019008","SNOMEDCT:724171006","medgen:129095"],"information_content":92.8}
{"id":"MONDO:0003060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"biliary tract cancer","equivalent_identifiers":["MONDO:0003060","DOID:4607","UMLS:C0750952","MEDDRA:10025734","SNOMEDCT:363415003","medgen:155474","ICD10:C24.9","ICD9:156.9"],"information_content":74.1}
{"id":"MONDO:0003061","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoma","equivalent_identifiers":["MONDO:0003061","DOID:2691","DOID:461","UMLS:C0027086","MESH:D009214","MEDDRA:10048613","MEDDRA:10061692","MEDDRA:10074632","NCIT:C4882","SNOMEDCT:1156875002","SNOMEDCT:92237006","medgen:10236","ICD10:D21","HP:0031460"],"information_content":68.9}
{"id":"MONDO:0003067","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervical lymphadenitis","equivalent_identifiers":["MONDO:0003067","DOID:4637","UMLS:C0149642","MEDDRA:10001138","MEDDRA:10008223","MEDDRA:10025190","MEDDRA:10025195","NCIT:C26937","SNOMEDCT:3502005","medgen:101763"],"information_content":95.4}
{"id":"MONDO:0003069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"suppurative lymphadenitis","equivalent_identifiers":["MONDO:0003069","DOID:4639","UMLS:C0392051","MEDDRA:10025194","MEDDRA:10025207","MEDDRA:10042587","NCIT:C27135","SNOMEDCT:48573006","medgen:140258","icd11.foundation:1183198544"],"information_content":100.0}
{"id":"MONDO:0003073","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trilateral retinoblastoma","equivalent_identifiers":["MONDO:0003073","DOID:4647","UMLS:C2608045","NCIT:C7019","medgen:392856"],"information_content":95.4}
{"id":"MONDO:0003075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bilateral retinoblastoma","equivalent_identifiers":["MONDO:0003075","DOID:4650","UMLS:C0854914","MEDDRA:10038917","NCIT:C8713","medgen:163163"],"information_content":95.4}
{"id":"MONDO:0003077","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intraocular retinoblastoma","equivalent_identifiers":["MONDO:0003077","DOID:4653","UMLS:C0278717","MEDDRA:10022810","NCIT:C7846","medgen:78874"],"information_content":95.4}
{"id":"MONDO:0003078","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"extraocular retinoblastoma","equivalent_identifiers":["MONDO:0003078","DOID:4656","UMLS:C0278719","MEDDRA:10015831","NCIT:C7848","medgen:75861"],"information_content":95.4}
{"id":"MONDO:0003083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"venous hemangioma","equivalent_identifiers":["MONDO:0003083","DOID:467","UMLS:C0265950","UMLS:C0334532","MEDDRA:10047229","NCIT:C4296","SNOMEDCT:234124003","SNOMEDCT:403968005","SNOMEDCT:56468002","medgen:90801"],"information_content":100.0}
{"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:0003105","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostate disorder","equivalent_identifiers":["MONDO:0003105","DOID:47","EFO:0009602","UMLS:C0033575","MESH:D011469","MEDDRA:10036956","MEDDRA:10036957","NCIT:C26865","SNOMEDCT:30281009","medgen:10964","ICD10:N42.9","ICD9:602.9"],"information_content":61.8}
{"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:0003117","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"somatoform disorder","equivalent_identifiers":["MONDO:0003117","DOID:4737","EFO:0009687","UMLS:C0037650","MESH:D013001","MEDDRA:10037191","MEDDRA:10054153","NCIT:C34956","SNOMEDCT:31297008","medgen:20835","ICD10:F45","ICD9:300.8"],"information_content":87.2}
{"id":"MONDO:0003120","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mixed testicular germ cell cancer","equivalent_identifiers":["MONDO:0003120","DOID:4743","EFO:0010831","UMLS:C1336720","MEDDRA:10073119","MEDDRA:10073250","NCIT:C6347","medgen:237005"],"information_content":80.6}
{"id":"MONDO:0003124","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular Leydig cell tumor","equivalent_identifiers":["MONDO:0003124","DOID:4756","EFO:1000569","UMLS:C0863027","MEDDRA:10024407","MEDDRA:10062464","NCIT:C6356","SNOMEDCT:67871000119105","medgen:163584"],"information_content":95.4}
{"id":"MONDO:0003126","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast hemangioma","equivalent_identifiers":["MONDO:0003126","DOID:476","UMLS:C0853715","MEDDRA:10018820","MEDDRA:10055393","NCIT:C5353","medgen:163122"],"information_content":92.8}
{"id":"MONDO:0003134","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proliferative glomerulonephritis","equivalent_identifiers":["MONDO:0003134","DOID:4778","UMLS:C0235618","MEDDRA:10018376","NCIT:C35281","SNOMEDCT:441815006","medgen:68617"],"information_content":92.8}
{"id":"MONDO:0003139","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesangial proliferative glomerulonephritis","equivalent_identifiers":["MONDO:0003139","DOID:4783","UMLS:C0221238","MEDDRA:10066453","NCIT:C35445","SNOMEDCT:35546006","medgen:66364"],"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":"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":"MONDO:0003157","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"disappearing bone disease","equivalent_identifiers":["MONDO:0003157","DOID:4837","UMLS:C0029436","MESH:D010015","SNOMEDCT:240161003","medgen:45247"],"information_content":92.8}
{"id":"MONDO:0003158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant myoepithelioma","equivalent_identifiers":["MONDO:0003158","DOID:4838","UMLS:C0334699","NCIT:C7596","SNOMEDCT:128884000","SNOMEDCT:1293098006","medgen:90822"],"information_content":86.3}
{"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:0003218","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenocarcinoma in situ","equivalent_identifiers":["MONDO:0003218","DOID:4943","UMLS:C0334276","MESH:D065311","NCIT:C4123","SNOMEDCT:51642000","medgen:87203"],"information_content":73.8}
{"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":"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:0003232","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alcoholic pancreatitis","equivalent_identifiers":["MONDO:0003232","DOID:4988","EFO:1002013","UMLS:C0376670","MESH:D019512","MEDDRA:10056977","SNOMEDCT:445507008","medgen:84027"],"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":"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:0003250","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoblastoma","equivalent_identifiers":["MONDO:0003250","DOID:5039","UMLS:C0027043","NCIT:C3252","SNOMEDCT:1336225003","medgen:44550"],"information_content":85.5}
{"id":"MONDO:0003256","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurohypophysis granular cell tumor","equivalent_identifiers":["MONDO:0003256","DOID:5047","EFO:1000285","UMLS:C1333873","NCIT:C7017","SNOMEDCT:699331002","medgen:232255"],"information_content":100.0}
{"id":"MONDO:0003265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adjustment disorder","equivalent_identifiers":["MONDO:0003265","DOID:507","UMLS:C0001546","UMLS:C0040701","UMLS:C0543947","UMLS:C1522512","UMLS:C1522520","MESH:D000275","MEDDRA:10001082","MEDDRA:10001295","MEDDRA:10001301","MEDDRA:10001303","MEDDRA:10001313","MEDDRA:10044402","MEDDRA:10045617","MEDDRA:10061621","NCIT:C92191","SNOMEDCT:17226007","SNOMEDCT:192041001","medgen:1338","icd11.foundation:264310751","ICD9:309"],"information_content":100.0}
{"id":"MONDO:0003268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mixed glioma","equivalent_identifiers":["MONDO:0003268","DOID:5076","UMLS:C0259783","MEDDRA:10074669","NCIT:C3903","SNOMEDCT:22217002","SNOMEDCT:443937008","medgen:75477"],"information_content":81.3}
{"id":"MONDO:0003275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"middle ear cancer","equivalent_identifiers":["MONDO:0003275","DOID:5099","UMLS:C0496788","MEDDRA:10025679","MEDDRA:10061267","NCIT:C4765","SNOMEDCT:363359008","medgen:99218"],"information_content":89.4}
{"id":"MONDO:0003279","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular infarct","equivalent_identifiers":["MONDO:0003279","DOID:5104","UMLS:C0392041","MEDDRA:10021764","MEDDRA:10043337","NCIT:C27617","SNOMEDCT:33793000","medgen:95919"],"information_content":100.0}
{"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":"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:0003289","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"deep leiomyoma","equivalent_identifiers":["MONDO:0003289","DOID:5128","UMLS:C1333266","NCIT:C6512","medgen:234195"],"information_content":100.0}
{"id":"MONDO:0003290","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"simple partial epilepsy","equivalent_identifiers":["MONDO:0003290","DOID:5129","UMLS:C0154712","ICD9:345.51"],"information_content":100.0}
{"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:0003296","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cellular leiomyoma","equivalent_identifiers":["MONDO:0003296","DOID:5139","UMLS:C0334477","NCIT:C4256","SNOMEDCT:754555501000119102","SNOMEDCT:90955001","medgen:83155"],"information_content":95.4}
{"id":"MONDO:0003298","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulvar leiomyoma","equivalent_identifiers":["MONDO:0003298","DOID:5142","UMLS:C1520087","NCIT:C40326","medgen:274417"],"information_content":100.0}
{"id":"MONDO:0003301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dartoic myoma","equivalent_identifiers":["MONDO:0003301","DOID:5147","UMLS:C0346066","NCIT:C4483","SNOMEDCT:254770007","medgen:91078"],"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:0003306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical neurofibroma","equivalent_identifiers":["MONDO:0003306","DOID:5153","UMLS:C1510961","UMLS:C5557433","NCIT:C41426","SNOMEDCT:1290945007","SNOMEDCT:734083001","medgen:267320"],"information_content":100.0}
{"id":"MONDO:0003310","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Monckeberg arteriosclerosis","equivalent_identifiers":["MONDO:0003310","DOID:5161","UMLS:C0887866","MESH:D050380","MEDDRA:10003212","MEDDRA:10003213","MEDDRA:10027812","NCIT:C35770","SNOMEDCT:69742007","medgen:165784"],"information_content":100.0}
{"id":"MONDO:0003312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian endometrioid stromal and related neoplasms","equivalent_identifiers":["MONDO:0003312","DOID:5169","UMLS:C4288544","NCIT:C40065","medgen:926076"],"information_content":92.8}
{"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:0003321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary Wilms tumor","equivalent_identifiers":["MONDO:0003321","DOID:5183","OMIM.PS:194070","UMLS:C0677779","NCIT:C8496","medgen:146190"],"information_content":87.2}
{"id":"MONDO:0003322","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epithelial predominant Wilms' tumor","equivalent_identifiers":["MONDO:0003322","DOID:5189","UMLS:C0279608","NCIT:C9146","medgen:76000"],"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:0003330","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urinary tract obstruction","equivalent_identifiers":["MONDO:0003330","DOID:5200","EFO:0009571","UMLS:C0178879","MEDDRA:10029984","MEDDRA:10046548","MEDDRA:10046587","MEDDRA:10046710","MEDDRA:10061574","NCIT:C3675","NCIT:C79805","SNOMEDCT:7163005","medgen:64247","ICD10:N13.9","ICD9:599.6"],"information_content":83.6}
{"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:0003335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic polyneuropathy","equivalent_identifiers":["MONDO:0003335","DOID:5221","UMLS:C1167650","MEDDRA:10036107","MEDDRA:10064135","NCIT:C36071","medgen:223911"],"information_content":89.4}
{"id":"MONDO:0003336","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute necrotizing encephalitis","equivalent_identifiers":["MONDO:0003336","DOID:5222","UMLS:C0338418","NCIT:C35383","SNOMEDCT:111897007","medgen:83264"],"information_content":100.0}
{"id":"MONDO:0003356","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epithelioid leiomyosarcoma","equivalent_identifiers":["MONDO:0003356","DOID:5264","UMLS:C0205815","NCIT:C3700","SNOMEDCT:42392001","medgen:61454"],"information_content":95.4}
{"id":"MONDO:0003359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myxoid leiomyosarcoma","equivalent_identifiers":["MONDO:0003359","DOID:5268","UMLS:C0205816","NCIT:C3701","SNOMEDCT:16090008","medgen:104725"],"information_content":95.4}
{"id":"MONDO:0003366","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrarthrosis","equivalent_identifiers":["MONDO:0003366","DOID:528","UMLS:C0158157","UMLS:C1253936","MESH:D006833","MEDDRA:10014301","MEDDRA:10014306","MEDDRA:10020487","MEDDRA:10023215","NCIT:C49052","SNOMEDCT:387637008","medgen:222181","ICD9:719.08"],"information_content":92.8}
{"id":"MONDO:0003371","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast leiomyosarcoma","equivalent_identifiers":["MONDO:0003371","DOID:5285","UMLS:C1332631","NCIT:C5186","medgen:234050"],"information_content":100.0}
{"id":"MONDO:0003372","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulvar leiomyosarcoma","equivalent_identifiers":["MONDO:0003372","DOID:5286","EFO:1001975","UMLS:C2168304","NCIT:C40318","medgen:378348"],"information_content":100.0}
{"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":"MONDO:0003387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urethra clear cell adenocarcinoma","equivalent_identifiers":["MONDO:0003387","DOID:5307","UMLS:C1336886","NCIT:C6172","medgen:277846"],"information_content":100.0}
{"id":"MONDO:0003393","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Thymus Disorder","equivalent_identifiers":["MONDO:0003393","DOID:533","UMLS:C0154199","MEDDRA:10043677","MEDDRA:10043678","MEDDRA:10045760","MEDDRA:10061381","NCIT:C26962","SNOMEDCT:20673009","medgen:57585","ICD10:E32","ICD9:254"],"information_content":68.5}
{"id":"MONDO:0003396","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epulis","equivalent_identifiers":["MONDO:0003396","DOID:5337","UMLS:C0266919","MEDDRA:10018288","MEDDRA:10057974","NCIT:C3948","SNOMEDCT:45676007","SNOMEDCT:71708001","medgen:82751","icd11.foundation:1849228776"],"information_content":92.8}
{"id":"MONDO:0003397","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gingival hypertrophy","equivalent_identifiers":["MONDO:0003397","DOID:5338","UMLS:C0017567","MESH:D005886","MEDDRA:10018273","MEDDRA:10018284","MEDDRA:10018781","MEDDRA:10020882","medgen:6603"],"information_content":100.0}
{"id":"MONDO:0003406","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sleep disorder","equivalent_identifiers":["MONDO:0003406","DOID:535","UMLS:C0154564","UMLS:C4042891","MESH:D012893","MEDDRA:10057744","SNOMEDCT:39898005","medgen:875755","ICD9:307.4"],"information_content":72.7}
{"id":"MONDO:0003409","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colonic disease","equivalent_identifiers":["MONDO:0003409","DOID:5353","UMLS:C0009373","MESH:D003108","SNOMEDCT:128524007","medgen:1049"],"information_content":68.7}
{"id":"MONDO:0003414","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin pilomatrix carcinoma","equivalent_identifiers":["MONDO:0003414","DOID:5376","orphanet:499182","UMLS:C0585475","MEDDRA:10075614","NCIT:C4114","SNOMEDCT:24762001","SNOMEDCT:307610008","medgen:108439"],"information_content":100.0}
{"id":"MONDO:0003422","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung adenoma","equivalent_identifiers":["MONDO:0003422","DOID:5386","UMLS:C0345964","NCIT:C4455","SNOMEDCT:254642004","medgen:83394"],"information_content":86.3}
{"id":"MONDO:0003423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"middle ear adenoma","equivalent_identifiers":["MONDO:0003423","DOID:5387","UMLS:C1334759","NCIT:C6834","SNOMEDCT:734078009"],"information_content":100.0}
{"id":"MONDO:0003424","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oncocytic adenoma","equivalent_identifiers":["MONDO:0003424","DOID:5389","EFO:1001079","UMLS:C0949541","UMLS:C1510502","MESH:D018249","MEDDRA:10048757","MEDDRA:10048760","MEDDRA:10078974","MEDDRA:10078976","NCIT:C3759","NCIT:C46068","SNOMEDCT:363639001","SNOMEDCT:89439007","medgen:307150"],"information_content":84.8}
{"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":"MONDO:0003427","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bronchus adenoma","equivalent_identifiers":["MONDO:0003427","DOID:5391","UMLS:C0149845","UMLS:C1305409","NCIT:C3494","NCIT:C7559","SNOMEDCT:24482001","medgen:56206"],"information_content":92.8}
{"id":"MONDO:0003431","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipoadenoma","equivalent_identifiers":["MONDO:0003431","DOID:5398","UMLS:C0334325","MEDDRA:10057341","NCIT:C4159","SNOMEDCT:22024005","medgen:83133"],"information_content":92.8}
{"id":"MONDO:0003433","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"water-clear cell adenoma","equivalent_identifiers":["MONDO:0003433","DOID:5401","UMLS:C0334321","NCIT:C4155","SNOMEDCT:26638004","medgen:83129"],"information_content":100.0}
{"id":"MONDO:0003435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"microcystic adenoma","equivalent_identifiers":["MONDO:0003435","DOID:5403","UMLS:C0205648","NCIT:C3685","SNOMEDCT:79494009","medgen:64420"],"information_content":95.4}
{"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":"MONDO:0003446","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papillary hidradenoma","equivalent_identifiers":["MONDO:0003446","DOID:5439","UMLS:C0334348","UMLS:C4505170","MESH:D000074009","MEDDRA:10020042","NCIT:C4171","SNOMEDCT:307597000","SNOMEDCT:89791006","medgen:87221"],"information_content":92.8}
{"id":"MONDO:0003448","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spiradenoma","equivalent_identifiers":["MONDO:0003448","DOID:5444","UMLS:C0334347","MEDDRA:10065278","NCIT:C4170","SNOMEDCT:403938001","SNOMEDCT:4977000","medgen:90768"],"information_content":90.9}
{"id":"MONDO:0003452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cochlear disorder","equivalent_identifiers":["MONDO:0003452","DOID:5463","UMLS:C0009197","MESH:D015834","medgen:1023"],"information_content":100.0}
{"id":"MONDO:0003460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"clear cell adenofibroma","equivalent_identifiers":["MONDO:0003460","DOID:5477","UMLS:C0334317","UMLS:C5848071","NCIT:C8987","medgen:90762"],"information_content":86.3}
{"id":"MONDO:0003470","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cellular ependymoma","equivalent_identifiers":["MONDO:0003470","DOID:5500","UMLS:C1384403","NCIT:C4713","SNOMEDCT:253067007","medgen:235137"],"information_content":100.0}
{"id":"MONDO:0003471","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pediculus humanus capitis infestation","equivalent_identifiers":["MONDO:0003471","DOID:5501","UMLS:C0030757","MEDDRA:10019197","MEDDRA:10019199","MEDDRA:10034210","MEDDRA:10034214","SNOMEDCT:81000006","medgen:508022","ICD10:B85.0","ICD9:132.0","HP:6000743"],"information_content":100.0}
{"id":"MONDO:0003472","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pediculosis","equivalent_identifiers":["MONDO:0003472","DOID:5502","UMLS:C0030756","MESH:D010373","MEDDRA:10024424","MEDDRA:10034208","MEDDRA:10034213","NCIT:C128401","SNOMEDCT:20848007","SNOMEDCT:414618002","medgen:18339","ICD10:B85.2","ICD9:132.9"],"information_content":90.9}
{"id":"MONDO:0003473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal cord ependymoma","equivalent_identifiers":["MONDO:0003473","DOID:5503","UMLS:C0238432","NCIT:C3875","SNOMEDCT:254949006","medgen:65968"],"information_content":90.9}
{"id":"MONDO:0003474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tanycytic ependymoma","equivalent_identifiers":["MONDO:0003474","DOID:5504","UMLS:C1370500","NCIT:C6903","SNOMEDCT:397378002","medgen:237159"],"information_content":100.0}
{"id":"MONDO:0003478","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood ependymoma","equivalent_identifiers":["MONDO:0003478","DOID:5509","UMLS:C1851584","MESH:C531673","NCIT:C8578","medgen:343609"],"information_content":79.3}
{"id":"MONDO:0003479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toxic pneumonitis","equivalent_identifiers":["MONDO:0003479","DOID:551","UMLS:C0041881","UMLS:C3714582","MEDDRA:10008427","MEDDRA:10035745","MEDDRA:10070890","NCIT:C35316","SNOMEDCT:233733000","medgen:811389","ICD9:506.9"],"information_content":100.0}
{"id":"MONDO:0003516","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult teratoma","equivalent_identifiers":["MONDO:0003516","DOID:5565","UMLS:C1368898","NCIT:C9013","medgen:277966"],"information_content":89.4}
{"id":"MONDO:0003517","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mature teratoma","equivalent_identifiers":["MONDO:0003517","DOID:5566","UMLS:C0346187","UMLS:C1368910","NCIT:C9015","SNOMEDCT:254875009","medgen:277967"],"information_content":78.5}
{"id":"MONDO:0003522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"male orgasm disorder","equivalent_identifiers":["MONDO:0003522","DOID:5576","UMLS:C0033949","MEDDRA:10022033","MEDDRA:10025513","MEDDRA:10037227","NCIT:C34959","SNOMEDCT:81903006","medgen:19560","ICD10:F52.32"],"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":"MONDO:0003544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinal cancer","equivalent_identifiers":["MONDO:0003544","DOID:5612","UMLS:C0153646","MEDDRA:10026472","MEDDRA:10026700","NCIT:C3572","SNOMEDCT:363475005","medgen:56317","ICD10:C72.0","ICD9:192.2"],"information_content":81.7}
{"id":"MONDO:0003546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"third cranial nerve disorder","equivalent_identifiers":["MONDO:0003546","DOID:562","UMLS:C0271353","MESH:D015840","MEDDRA:10053644","MEDDRA:10053661","NCIT:C27598","SNOMEDCT:60750009","medgen:78766"],"information_content":77.8}
{"id":"MONDO:0003550","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophageal adenosquamous carcinoma","equivalent_identifiers":["MONDO:0003550","DOID:5625","UMLS:C2063886","MEDDRA:10082968","MEDDRA:10082969","NCIT:C27421","medgen:389165"],"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":"MONDO:0003562","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rete testis neoplasm","equivalent_identifiers":["MONDO:0003562","DOID:5639","UMLS:C1514912","NCIT:C39955","medgen:308162"],"information_content":92.8}
{"id":"MONDO:0003563","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse pulmonary fibrosis","equivalent_identifiers":["MONDO:0003563","DOID:5641","UMLS:C0865849","NCIT:C27216","medgen:167847"],"information_content":100.0}
{"id":"MONDO:0003568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"disorder of optic chiasm","equivalent_identifiers":["MONDO:0003568","DOID:5655","UMLS:C0155307","MEDDRA:10013331","MEDDRA:10067348","SNOMEDCT:70476006","medgen:509905","icd11.foundation:927459952","ICD10:H47.4","ICD9:377.5"],"information_content":100.0}
{"id":"MONDO:0003570","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipid-rich carcinoma","equivalent_identifiers":["MONDO:0003570","DOID:5658","UMLS:C0334318","NCIT:C4152","SNOMEDCT:3839000","medgen:137742"],"information_content":95.4}
{"id":"MONDO:0003572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasopharyngeal type undifferentiated carcinoma","equivalent_identifiers":["MONDO:0003572","DOID:5660","UMLS:C0334254","MEDDRA:10082022","MEDDRA:10082023","MEDDRA:10089969","NCIT:C4107","SNOMEDCT:7300000","SNOMEDCT:764938007","medgen:87199"],"information_content":76.7}
{"id":"MONDO:0003575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"comedocarcinoma","equivalent_identifiers":["MONDO:0003575","DOID:5670","UMLS:C0334370","NCIT:C4188","SNOMEDCT:36425007","medgen:90773"],"information_content":88.2}
{"id":"MONDO:0003593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast liposarcoma","equivalent_identifiers":["MONDO:0003593","DOID:5701","UMLS:C1332632","NCIT:C5187","medgen:231968"],"information_content":100.0}
{"id":"MONDO:0003604","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"functioning pituitary gland neoplasm","equivalent_identifiers":["MONDO:0003604","DOID:5716","UMLS:C0851693","UMLS:C3163678","MEDDRA:10035099","SNOMEDCT:448148000","medgen:163414"],"information_content":84.8}
{"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":"MONDO:0003614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intravenous leiomyomatosis","equivalent_identifiers":["MONDO:0003614","DOID:5729","UMLS:C0346200","NCIT:C4518","SNOMEDCT:1157175007","SNOMEDCT:254883003","medgen:83417"],"information_content":95.4}
{"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:0003618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pyosalpinx","equivalent_identifiers":["MONDO:0003618","DOID:5732","UMLS:C0034220","MEDDRA:10037657","NCIT:C34968","SNOMEDCT:397810006","medgen:18785"],"information_content":100.0}
{"id":"MONDO:0003619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"salpingitis","equivalent_identifiers":["MONDO:0003619","DOID:5733","UMLS:C0036130","MESH:D012488","MEDDRA:10039453","MEDDRA:10039462","NCIT:C26880","SNOMEDCT:88157006","medgen:20646","ICD10:N70.91","HP:0034492"],"information_content":83.1}
{"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:0003632","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endocervicitis","equivalent_identifiers":["MONDO:0003632","DOID:5757","UMLS:C0014127","MEDDRA:10014690","NCIT:C26762","SNOMEDCT:31354001","medgen:4942","icd11.foundation:803236221"],"information_content":100.0}
{"id":"MONDO:0003633","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant mesenchymoma","equivalent_identifiers":["MONDO:0003633","DOID:5758","UMLS:C0334492","MESH:C535700","MEDDRA:10025673","MEDDRA:10025676","MEDDRA:10025678","MEDDRA:10061526","NCIT:C4268","SNOMEDCT:89623007","medgen:87252"],"information_content":92.8}
{"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: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":"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":"MONDO:0003659","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pediatric lymphoma","equivalent_identifiers":["MONDO:0003659","DOID:5823","UMLS:C1332979","NCIT:C5165","medgen:232062"],"information_content":68.3}
{"id":"MONDO:0003669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testis seminoma","equivalent_identifiers":["MONDO:0003669","DOID:5842","orphanet:842","EFO:0003101","UMLS:C5551428","MEDDRA:10043353","MEDDRA:10062124","NCIT:C7328","medgen:1790467"],"information_content":84.2}
{"id":"MONDO:0003672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior myocardial infarction","equivalent_identifiers":["MONDO:0003672","DOID:5847","UMLS:C0340319","MEDDRA:10057548","SNOMEDCT:194802003","medgen:90949"],"information_content":100.0}
{"id":"MONDO:0003679","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anteroseptal myocardial infarction","equivalent_identifiers":["MONDO:0003679","DOID:5855","UMLS:C0262565","medgen:78087"],"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":"MONDO:0003713","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angiokeratoma circumscriptum","equivalent_identifiers":["MONDO:0003713","DOID:5949","UMLS:C0263638","NCIT:C7751","SNOMEDCT:21848000","medgen:120485","icd11.foundation:225334653","HP:0034408"],"information_content":100.0}
{"id":"MONDO:0003725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast adenosis","equivalent_identifiers":["MONDO:0003725","DOID:10352","DOID:5998","EFO:0006891","UMLS:C0085750","UMLS:C1305875","MEDDRA:10006249","MEDDRA:10016616","MEDDRA:10016617","NCIT:C3484","SNOMEDCT:23260002","medgen:39336","ICD10:N60.2","ICD9:610.2"],"information_content":88.2}
{"id":"MONDO:0003727","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"animal phobia","equivalent_identifiers":["MONDO:0003727","DOID:600","EFO:1001876","UMLS:C0233711","MESH:C000719220","MEDDRA:10002518","MEDDRA:10016276","NCIT:C35273","SNOMEDCT:247848003","SNOMEDCT:54307006","medgen:65440"],"information_content":100.0}
{"id":"MONDO:0003748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"flying phobia","equivalent_identifiers":["MONDO:0003748","DOID:605","EFO:1001889","UMLS:C0344318","MESH:C000719189","MEDDRA:10034914","MEDDRA:10080300","NCIT:C35413","SNOMEDCT:247853008","SNOMEDCT:247854002","medgen:83369","ICD10:F40.243"],"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:0003751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood germ cell tumor","equivalent_identifiers":["MONDO:0003751","DOID:6053","UMLS:C0279014","NCIT:C7928","medgen:75907"],"information_content":70.8}
{"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:0003766","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thalamic cancer","equivalent_identifiers":["MONDO:0003766","DOID:6098","UMLS:C0346902","UMLS:C1336733","NCIT:C4576","NCIT:C6221","SNOMEDCT:188287005","medgen:83429","icd11.foundation:610018988"],"information_content":80.6}
{"id":"MONDO:0003767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitral valve disorder","equivalent_identifiers":["MONDO:0003767","DOID:61","EFO:0009557","UMLS:C0026265","UMLS:C0155563","MEDDRA:10013126","MEDDRA:10027725","MEDDRA:10039063","MEDDRA:10039064","MEDDRA:10061532","NCIT:C197955","NCIT:C78446","SNOMEDCT:11851006","SNOMEDCT:31085000","medgen:7669","ICD10:I05","ICD10:I05.1","ICD9:394","ICD9:394.1","ICD9:424.0"],"information_content":82.6}
{"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":"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":"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":"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:0003805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant pericardial mesothelioma","equivalent_identifiers":["MONDO:0003805","DOID:6201","orphanet:685004","UMLS:C0346110","UMLS:C0854883","UMLS:C1335381","MEDDRA:10034478","MEDDRA:10073066","NCIT:C7631","NCIT:C7632","NCIT:C8703","SNOMEDCT:109383000","medgen:233322","ICD10:C45.2","HP:0100004"],"information_content":92.8}
{"id":"MONDO:0003822","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-invasive bladder papillary urothelial neoplasm","equivalent_identifiers":["MONDO:0003822","DOID:6239","UMLS:C1266010","UMLS:C1518358","NCIT:C27884","NCIT:C39831","SNOMEDCT:128625004","medgen:309424"],"information_content":84.8}
{"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:0003827","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient hypogammaglobulinemia","equivalent_identifiers":["MONDO:0003827","DOID:625","UMLS:C0859960","NCIT:C27319","medgen:167815"],"information_content":95.4}
{"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: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:0003848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ectopic thymus","equivalent_identifiers":["MONDO:0003848","DOID:6307","UMLS:C1333375","NCIT:C27804","medgen:232148"],"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":"MONDO:0003867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse meningeal melanocytosis","equivalent_identifiers":["MONDO:0003867","DOID:6379","EFO:1000216","UMLS:C1266112","NCIT:C6890","SNOMEDCT:128729004","medgen:226841"],"information_content":100.0}
{"id":"MONDO:0003900","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"connective tissue disorder","equivalent_identifiers":["MONDO:0003900","DOID:65","EFO:1001986","UMLS:C0009782","MESH:D003240","MEDDRA:10010759","MEDDRA:10010760","MEDDRA:10061087","MEDDRA:10074472","NCIT:C26729","SNOMEDCT:105969002","medgen:1098"],"information_content":54.7}
{"id":"MONDO:0003903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign vaginal mixed tumor","equivalent_identifiers":["MONDO:0003903","DOID:6505","UMLS:C1511107","NCIT:C40280","medgen:267350"],"information_content":100.0}
{"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":"MONDO:0003930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-invasive bladder urothelial carcinoma","equivalent_identifiers":["MONDO:0003930","DOID:6571","UMLS:C1336089","MEDDRA:10066749","NCIT:C6188","medgen:233466"],"information_content":92.8}
{"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":"MONDO:0003939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscle tissue disorder","equivalent_identifiers":["MONDO:0003939","DOID:0080000","DOID:66","EFO:0002970","MESH:D009135","ICD10:G71","ICD10:M62"],"information_content":54.9}
{"id":"MONDO:0003940","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kummell disease","equivalent_identifiers":["MONDO:0003940","DOID:6603","UMLS:C0152088","MEDDRA:10041677","MEDDRA:10044543","SNOMEDCT:111232005","SNOMEDCT:240218006","medgen:508880","ICD10:M48.3","ICD9:721.7"],"information_content":100.0}
{"id":"MONDO:0003942","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eosinophilic variant of chromophobe renal cell carcinoma","equivalent_identifiers":["MONDO:0003942","DOID:6606","UMLS:C1333405","NCIT:C27889","medgen:232458"],"information_content":100.0}
{"id":"MONDO:0003945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bone Hemangioma","equivalent_identifiers":["MONDO:0003945","DOID:6610","EFO:1000132","UMLS:C1332575","UMLS:C1332578","MEDDRA:10072572","MEDDRA:10072573","NCIT:C5396","NCIT:C6477","SNOMEDCT:685021000119103","medgen:231951"],"information_content":92.8}
{"id":"MONDO:0003947","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyper-IgM syndrome","equivalent_identifiers":["MONDO:0003947","DOID:0080544","OMIM.PS:308230","UMLS:C0272236","MESH:D053306","MEDDRA:10066130","NCIT:C3990","NCIT:C84783","SNOMEDCT:82286005","medgen:124420","ICD10:D80.5"],"information_content":87.2}
{"id":"MONDO:0003956","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kissing spine","equivalent_identifiers":["MONDO:0003956","DOID:6643","UMLS:C0158248","MEDDRA:10023453","MEDDRA:10078024","SNOMEDCT:82304009","medgen:510482","ICD10:M48.2","ICD9:721.5"],"information_content":100.0}
{"id":"MONDO:0003957","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult pineoblastoma","equivalent_identifiers":["MONDO:0003957","DOID:6648","UMLS:C0281332","NCIT:C8292","medgen:83794"],"information_content":100.0}
{"id":"MONDO:0003963","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse infiltrative lymphocytosis syndrome","equivalent_identifiers":["MONDO:0003963","DOID:6677","UMLS:C1333292","MEDDRA:10086255","NCIT:C35699","SNOMEDCT:449784008","medgen:232428"],"information_content":100.0}
{"id":"MONDO:0003964","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myositis ossificans","equivalent_identifiers":["MONDO:0003964","DOID:668","UMLS:C0027122","MESH:D009221","MEDDRA:10048618","NCIT:C3253","SNOMEDCT:44551007","medgen:6503","icd11.foundation:635062595"],"information_content":95.4}
{"id":"MONDO:0003965","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Capgras syndrome","equivalent_identifiers":["MONDO:0003965","DOID:6680","UMLS:C0006895","MESH:D002194","MEDDRA:10007185","MEDDRA:10007186","NCIT:C34446","SNOMEDCT:44906001","medgen:2811"],"information_content":100.0}
{"id":"MONDO:0003969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amphetamine abuse","equivalent_identifiers":["MONDO:0003969","DOID:670","UMLS:C0154536","UMLS:C0236733","UMLS:C0236807","MESH:D019969","MEDDRA:10068729","SNOMEDCT:83367009","SNOMEDCT:84758004","medgen:66744","icd11.foundation:879494155","ICD9:305.7"],"information_content":100.0}
{"id":"MONDO:0003987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung lymphoma","equivalent_identifiers":["MONDO:0003987","DOID:6760","UMLS:C0519063","UMLS:C1704383","MEDDRA:10037418","NCIT:C4794","medgen:312385","HP:0011953"],"information_content":84.2}
{"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:0004001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"compartment syndrome","equivalent_identifiers":["MONDO:0004001","DOID:682","UMLS:C0009492","MESH:D003161","MEDDRA:10010121","NCIT:C118422","SNOMEDCT:111245009","medgen:40417","ICD10:T79.A0","ICD9:958.90"],"information_content":92.8}
{"id":"MONDO:0004004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"motor neuritis","equivalent_identifiers":["MONDO:0004004","DOID:683","UMLS:C0235025","MEDDRA:10028005","MEDDRA:10029245","MEDDRA:10034580","medgen:68610"],"information_content":95.4}
{"id":"MONDO:0004007","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast intraductal proliferative lesion","equivalent_identifiers":["MONDO:0004007","DOID:6839","UMLS:C1334631","MEDDRA:10073094","NCIT:C27942","medgen:277343"],"information_content":79.9}
{"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":"MONDO:0004035","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glomangiomatosis","equivalent_identifiers":["MONDO:0004035","DOID:6906","UMLS:C1333824","NCIT:C27496","SNOMEDCT:1293124003","SNOMEDCT:703603008","medgen:234311"],"information_content":100.0}
{"id":"MONDO:0004037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal edema","equivalent_identifiers":["MONDO:0004037","DOID:6929","UMLS:C0242420","MEDDRA:10014255","MEDDRA:10038860","MEDDRA:10038886","MEDDRA:10055937","SNOMEDCT:6141006","medgen:69183","HP:0031527"],"information_content":90.9}
{"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":"MONDO:0004058","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"WDHA Syndrome","equivalent_identifiers":["MONDO:0004058","DOID:6977","UMLS:C0086768","MEDDRA:10047318","NCIT:C3488","SNOMEDCT:39998009","medgen:39692"],"information_content":90.9}
{"id":"MONDO:0004059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dentin sensitivity","equivalent_identifiers":["MONDO:0004059","DOID:698","UMLS:C0011432","MESH:D003807","MEDDRA:10040010","MEDDRA:10040012","NCIT:C50778","SNOMEDCT:13468005","medgen:41477"],"information_content":100.0}
{"id":"MONDO:0004075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infiltrating lipoma","equivalent_identifiers":["MONDO:0004075","DOID:7014","UMLS:C0334473","MEDDRA:10083556","NCIT:C7450","NCIT:C7451","SNOMEDCT:1295204009","SNOMEDCT:24045002","medgen:90788","HP:0034696"],"information_content":95.4}
{"id":"MONDO:0004077","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lumbosacral lipoma","equivalent_identifiers":["MONDO:0004077","DOID:7017","UMLS:C1334438","NCIT:C6500","medgen:232708"],"information_content":100.0}
{"id":"MONDO:0004083","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Borst-Jadassohn intraepidermal carcinoma","equivalent_identifiers":["MONDO:0004083","DOID:7039","UMLS:C0334260","UMLS:C2937231","NCIT:C4110","SNOMEDCT:274897005","SNOMEDCT:39332000","SNOMEDCT:403886007","medgen:424845"],"information_content":100.0}
{"id":"MONDO:0004087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"basaloid large cell lung carcinoma","equivalent_identifiers":["MONDO:0004087","DOID:7045","UMLS:C1332463","NCIT:C7266","medgen:231419"],"information_content":100.0}
{"id":"MONDO:0004109","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epiglottis neoplasm","equivalent_identifiers":["MONDO:0004109","DOID:7105","UMLS:C1290353","MEDDRA:10087266","NCIT:C4933","SNOMEDCT:126699008","medgen:266215"],"information_content":88.2}
{"id":"MONDO:0004112","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radiation cystitis","equivalent_identifiers":["MONDO:0004112","DOID:7127","UMLS:C0156270","MEDDRA:10011800","MEDDRA:10022988","MEDDRA:10090408","NCIT:C123174","SNOMEDCT:11251000","medgen:510221","ICD10:N30.4","ICD9:595.82"],"information_content":100.0}
{"id":"MONDO:0004118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystitis cystica","equivalent_identifiers":["MONDO:0004118","DOID:7138","UMLS:C0152262","MEDDRA:10011788","NCIT:C96230","SNOMEDCT:13285005","medgen:472898","ICD9:595.81"],"information_content":100.0}
{"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:0004160","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"female stress incontinence","equivalent_identifiers":["MONDO:0004160","DOID:724","UMLS:C0038437","MEDDRA:10042214","NCIT:C35042","SNOMEDCT:60241006","medgen:21346","ICD9:625.6"],"information_content":100.0}
{"id":"MONDO:0004169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"premenstrual tension","equivalent_identifiers":["MONDO:0004169","DOID:727","UMLS:C0376356","MESH:D011293","MEDDRA:10036619","medgen:87683","ICD10:N94.3","ICD9:625.4"],"information_content":100.0}
{"id":"MONDO:0004170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nodular episcleritis","equivalent_identifiers":["MONDO:0004170","DOID:728","UMLS:C0155352","MEDDRA:10029476","SNOMEDCT:70558001","medgen:509927","icd11.foundation:134477595","ICD10:H15.12","ICD9:379.02"],"information_content":100.0}
{"id":"MONDO:0004180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign urinary system neoplasm","equivalent_identifiers":["MONDO:0004180","DOID:731","UMLS:C0686167","UMLS:C5779670","MESH:D014571","MEDDRA:10004470","MEDDRA:10046584","MEDDRA:10061006","NCIT:C192667","NCIT:C4893","SNOMEDCT:92468007","medgen:146348"],"information_content":72.9}
{"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":"MONDO:0004185","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian serous cystadenofibroma","equivalent_identifiers":["MONDO:0004185","DOID:7320","UMLS:C0877572","MEDDRA:10049686","NCIT:C40032","medgen:167919"],"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":"MONDO:0004190","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrogenic adenoma of urinary bladder","equivalent_identifiers":["MONDO:0004190","DOID:7333","UMLS:C1336892","NCIT:C7415","medgen:234976"],"information_content":89.4}
{"id":"MONDO:0004191","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephrogenic adenoma","equivalent_identifiers":["MONDO:0004191","DOID:7334","UMLS:C0334039","NCIT:C7413","NCIT:C97097","SNOMEDCT:78236000","medgen:452429"],"information_content":87.2}
{"id":"MONDO:0004192","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urethra cancer","equivalent_identifiers":["MONDO:0004192","DOID:734","UMLS:C0153620","MEDDRA:10026610","NCIT:C7507","SNOMEDCT:363459007","medgen:57565","ICD10:C68.0","ICD9:189.3"],"information_content":74.2}
{"id":"MONDO:0004195","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thymic dysplasia","equivalent_identifiers":["MONDO:0004195","DOID:7350","UMLS:C1331541","NCIT:C27802","medgen:231314"],"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:0004215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous anthrax","equivalent_identifiers":["MONDO:0004215","DOID:7426","UMLS:C0003177","MESH:C531621","MEDDRA:10011660","SNOMEDCT:84980006","medgen:1959","icd11.foundation:2057984300","ICD10:A22.0","ICD9:022.0"],"information_content":100.0}
{"id":"MONDO:0004225","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monoclonal gammopathy of uncertain significance","equivalent_identifiers":["MONDO:0004225","DOID:3404","DOID:7442","EFO:1000836","UMLS:C0026470","MESH:D008998","MEDDRA:10004293","MEDDRA:10020631","MEDDRA:10027522","MEDDRA:10027523","MEDDRA:10027863","MEDDRA:10054409","MEDDRA:10060563","NCIT:C3996","SNOMEDCT:277577000","SNOMEDCT:35601003","SNOMEDCT:58648008","medgen:44485"],"information_content":85.5}
{"id":"MONDO:0004230","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenomatoid tumor","equivalent_identifiers":["MONDO:0004230","DOID:746","UMLS:C0206675","MESH:D018254","MEDDRA:10004291","MEDDRA:10027413","MEDDRA:10061691","NCIT:C3762","SNOMEDCT:2348006","SNOMEDCT:41183007","medgen:60207","ICD10:D19.9"],"information_content":85.5}
{"id":"MONDO:0004234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic lymphoproliferative disorder of NK-cells","equivalent_identifiers":["MONDO:0004234","DOID:7465","orphanet:512017","UMLS:C1512709","NCIT:C39591","SNOMEDCT:722955006","medgen:268922","icd11.foundation:921755282"],"information_content":100.0}
{"id":"MONDO:0004235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diverticulitis","equivalent_identifiers":["MONDO:0004235","DOID:7475","EFO:1001460","UMLS:C0012813","MESH:D004238","MEDDRA:10013538","MEDDRA:10013543","NCIT:C26752","SNOMEDCT:18126004","SNOMEDCT:307496006","medgen:41629"],"information_content":89.4}
{"id":"MONDO:0004236","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"duodenal somatostatinoma","equivalent_identifiers":["MONDO:0004236","DOID:7479","UMLS:C1333320","NCIT:C27407","medgen:234205"],"information_content":100.0}
{"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:0004242","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"active peptic ulcer disease","equivalent_identifiers":["MONDO:0004242","DOID:749"],"information_content":100.0}
{"id":"MONDO:0004245","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ependymal tumor of brain","equivalent_identifiers":["MONDO:0004245","DOID:7497","UMLS:C0238029","NCIT:C3861","SNOMEDCT:254939008","medgen:116038"],"information_content":85.5}
{"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":"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":"MONDO:0004260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peptic ulcer perforation","equivalent_identifiers":["MONDO:0004260","DOID:752","EFO:1001389","UMLS:C0030925","UMLS:C0267291","MESH:D010439","MEDDRA:10000989","MEDDRA:10034353","MEDDRA:10034354","MEDDRA:10034371","MEDDRA:10034396","MEDDRA:10045332","NCIT:C196815","SNOMEDCT:79118000","SNOMEDCT:88169003","medgen:45385"],"information_content":100.0}
{"id":"MONDO:0004265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute endometritis","equivalent_identifiers":["MONDO:0004265","DOID:7528","UMLS:C0238103","NCIT:C27022","SNOMEDCT:67667007","medgen:68654","icd11.foundation:1197441046"],"information_content":95.4}
{"id":"MONDO:0004267","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"squamous papillomatosis","equivalent_identifiers":["MONDO:0004267","DOID:7532","UMLS:C1378340","NCIT:C9009","medgen:235130"],"information_content":90.9}
{"id":"MONDO:0004271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pregnancy adenoma","equivalent_identifiers":["MONDO:0004271","DOID:7539","UMLS:C1266023","NCIT:C9473","SNOMEDCT:128651002","medgen:226830"],"information_content":100.0}
{"id":"MONDO:0004277","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gonorrhea","equivalent_identifiers":["MONDO:0004277","DOID:7551","UMLS:C0018081","MESH:D006069","MEDDRA:10018604","MEDDRA:10018612","MEDDRA:10018615","MEDDRA:10051970","MEDDRA:10081185","NCIT:C35730","NCIT:C92950","SNOMEDCT:15628003","medgen:9077","ICD10:A54","ICD9:098"],"information_content":78.5}
{"id":"MONDO:0004298","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stomach disease","equivalent_identifiers":["MONDO:0004298","DOID:76","EFO:0009608","UMLS:C0038354","MESH:D013272","MEDDRA:10056819","MEDDRA:10072971","NCIT:C26886","SNOMEDCT:29384001","medgen:21329"],"information_content":62.2}
{"id":"MONDO:0004301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrosarcomatous osteosarcoma","equivalent_identifiers":["MONDO:0004301","DOID:7603","UMLS:C0279602","NCIT:C4020","SNOMEDCT:12690005","medgen:79012"],"information_content":100.0}
{"id":"MONDO:0004302","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chief cell adenoma","equivalent_identifiers":["MONDO:0004302","DOID:7607","UMLS:C0334320","MEDDRA:10033941","NCIT:C4154","SNOMEDCT:12205003","medgen:83128"],"information_content":100.0}
{"id":"MONDO:0004321","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometrial mixed adenocarcinoma","equivalent_identifiers":["MONDO:0004321","DOID:7664","UMLS:C4745252","NCIT:C40153","medgen:1670192","icd11.foundation:575106861"],"information_content":90.9}
{"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:0004324","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular fibroma","equivalent_identifiers":["MONDO:0004324","DOID:7675","UMLS:C1515282","NCIT:C39951","medgen:308256"],"information_content":100.0}
{"id":"MONDO:0004325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular thecoma","equivalent_identifiers":["MONDO:0004325","DOID:7676","UMLS:C1515299","NCIT:C39952","medgen:308260"],"information_content":100.0}
{"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":"MONDO:0004339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tuberculum sellae meningioma","equivalent_identifiers":["MONDO:0004339","DOID:7713","UMLS:C1336829","MEDDRA:10087648","NCIT:C5284","medgen:277835"],"information_content":100.0}
{"id":"MONDO:0004345","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood malignant schwannoma","equivalent_identifiers":["MONDO:0004345","DOID:7732","UMLS:C0279987","NCIT:C8094","medgen:83582"],"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:0004359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"delusional disorder","equivalent_identifiers":["MONDO:0004359","DOID:778","UMLS:C0011251","MEDDRA:10012256","NCIT:C94379","SNOMEDCT:48500005","medgen:8276","icd11.foundation:1974996783","ICD10:F22","ICD9:297.1"],"information_content":86.3}
{"id":"MONDO:0004360","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast extraskeletal osteosarcoma","equivalent_identifiers":["MONDO:0004360","DOID:7787","UMLS:C1335149","NCIT:C5189","medgen:235414"],"information_content":100.0}
{"id":"MONDO:0004367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"petroclival meningioma","equivalent_identifiers":["MONDO:0004367","DOID:7818","UMLS:C1335395","NCIT:C5278","medgen:277511"],"information_content":100.0}
{"id":"MONDO:0004368","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sphenoorbital meningioma","equivalent_identifiers":["MONDO:0004368","DOID:7819","UMLS:C1336040","NCIT:C5285","medgen:233458"],"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":"MONDO:0004379","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"female breast carcinoma","equivalent_identifiers":["MONDO:0004379","DOID:0050671","DOID:7843","UMLS:C0007104","NCIT:C2918","SNOMEDCT:372064008","SNOMEDCT:447782002","medgen:40099"],"information_content":84.2}
{"id":"MONDO:0004382","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngeal disorder","equivalent_identifiers":["MONDO:0004382","DOID:786","EFO:0009673","UMLS:C0023051","MESH:D007818","MEDDRA:10023837","MEDDRA:10045749","MEDDRA:10061263","NCIT:C26810","SNOMEDCT:60600009","medgen:7268","ICD9:478.70"],"information_content":65.8}
{"id":"MONDO:0004384","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maxillary sinus inverted papilloma","equivalent_identifiers":["MONDO:0004384","DOID:7868","UMLS:C1334645","NCIT:C6840","medgen:277347"],"information_content":100.0}
{"id":"MONDO:0004385","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adult xanthogranuloma","equivalent_identifiers":["MONDO:0004385","DOID:7875","UMLS:C1332220","NCIT:C27514","medgen:231363"],"information_content":100.0}
{"id":"MONDO:0004387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"luteoma","equivalent_identifiers":["MONDO:0004387","DOID:7880","EFO:1000434","UMLS:C0024167","UMLS:C0334209","UMLS:C1517842","MESH:D018311","NCIT:C3202","NCIT:C40445","SNOMEDCT:26372004","SNOMEDCT:3645005","medgen:137726"],"information_content":100.0}
{"id":"MONDO:0004389","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mite infestation","equivalent_identifiers":["MONDO:0004389","DOID:7894","UMLS:C0026229","UMLS:C1290826","MESH:D008924","MEDDRA:10000351","MEDDRA:10000352","MEDDRA:10000354","SNOMEDCT:187214007","SNOMEDCT:240885009","medgen:7661","ICD10:B88.9","ICD9:133"],"information_content":90.9}
{"id":"MONDO:0004390","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ocular hypotension","equivalent_identifiers":["MONDO:0004390","DOID:790","UMLS:C0028841","MESH:D015814","MEDDRA:10021124","MEDDRA:10022804","MEDDRA:10022807","MEDDRA:10056914","NCIT:C172147","SNOMEDCT:19721008","SNOMEDCT:23670006","medgen:10424","ICD10:H44.4","ICD9:360.3","HP:0032547"],"information_content":92.8}
{"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:0004428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alveoli adenoma","equivalent_identifiers":["MONDO:0004428","DOID:8003","UMLS:C0334303","NCIT:C4140","SNOMEDCT:8097004","medgen:137740"],"information_content":100.0}
{"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":"MONDO:0004456","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cocaine abuse","equivalent_identifiers":["MONDO:0004456","DOID:809","UMLS:C0009171","UMLS:C0236736","MESH:D019970","MEDDRA:10009810","MEDDRA:10009814","SNOMEDCT:46975003","SNOMEDCT:78267003","medgen:3136","ICD10:F14.1","ICD9:305.6"],"information_content":100.0}
{"id":"MONDO:0004460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal adenoma","equivalent_identifiers":["MONDO:0004460","DOID:8102","UMLS:C0334328","NCIT:C4160","SNOMEDCT:30301008","medgen:137743"],"information_content":100.0}
{"id":"MONDO:0004466","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronitis","equivalent_identifiers":["MONDO:0004466","DOID:8117","UMLS:C0027881","MEDDRA:10029324","NCIT:C34847","medgen:45064"],"information_content":100.0}
{"id":"MONDO:0004471","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bacterial arthritis","equivalent_identifiers":["MONDO:0004471","DOID:813","EFO:1001351","UMLS:C0157843","UMLS:C0157844","UMLS:C0157845","UMLS:C0157846","UMLS:C0157847","UMLS:C0157848","UMLS:C0157849","UMLS:C1692886","MESH:D001170","MEDDRA:10003249","MEDDRA:10045950","MEDDRA:10045952","MEDDRA:10045956","MEDDRA:10045957","MEDDRA:10053555","NCIT:C26699","SNOMEDCT:428437005","SNOMEDCT:48245008","medgen:308434","ICD10:M00","ICD9:711.90","ICD9:711.91","ICD9:711.92","ICD9:711.93","ICD9:711.94","ICD9:711.95","ICD9:711.96","ICD9:711.97"],"information_content":85.5}
{"id":"MONDO:0004482","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibroosseous pseudotumor of the digits","equivalent_identifiers":["MONDO:0004482","DOID:8153","UMLS:C1333612","NCIT:C6573","SNOMEDCT:403991009","medgen:232507"],"information_content":95.4}
{"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:0004492","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mediastinitis","equivalent_identifiers":["MONDO:0004492","DOID:819","UMLS:C0025064","MESH:D008480","MEDDRA:10027082","NCIT:C26827","SNOMEDCT:373409004","SNOMEDCT:47597000","medgen:9921","icd11.foundation:1612791605","ICD10:J98.51","ICD9:519.2"],"information_content":92.8}
{"id":"MONDO:0004495","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myotonic cataract","equivalent_identifiers":["MONDO:0004495","DOID:82","UMLS:C0027128","MEDDRA:10028657","NCIT:C34833","SNOMEDCT:64741003","medgen:44565","icd11.foundation:1723425593","ICD9:366.43"],"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: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":"MONDO:0004522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peritonitis","equivalent_identifiers":["MONDO:0004522","DOID:8283","EFO:0008588","UMLS:C0029823","UMLS:C1264610","MEDDRA:10071647","NCIT:C26849","SNOMEDCT:129129003","SNOMEDCT:86422009","medgen:688825","ICD9:567.8"],"information_content":87.2}
{"id":"MONDO:0004525","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scabies","equivalent_identifiers":["MONDO:0004525","DOID:8295","UMLS:C0036262","MESH:D012532","MEDDRA:10039502","MEDDRA:10039511","MEDDRA:10039512","NCIT:C34998","SNOMEDCT:128869009","medgen:48566","icd11.foundation:876005123","ICD10:B86","ICD9:133.0"],"information_content":95.4}
{"id":"MONDO:0004551","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meckel diverticulitis","equivalent_identifiers":["MONDO:0004551","DOID:8408","UMLS:C0267497","MEDDRA:10013542","MEDDRA:10027054","NCIT:C27300","SNOMEDCT:48241004","medgen:75634","icd11.foundation:543494453"],"information_content":100.0}
{"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":"MONDO:0004558","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colloid adenoma","equivalent_identifiers":["MONDO:0004558","DOID:8419","UMLS:C0334329","NCIT:C4161","SNOMEDCT:26545006","medgen:90763"],"information_content":100.0}
{"id":"MONDO:0004564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid malformation","equivalent_identifiers":["MONDO:0004564","DOID:8433","UMLS:C0877367","MEDDRA:10048655","MEDDRA:10062125","NCIT:C27331","medgen:209098"],"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: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":"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":"MONDO:0004569","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachial plexus neuropathy from injury","equivalent_identifiers":["MONDO:0004569","DOID:8443","UMLS:C0006091","MEDDRA:10006075","medgen:507501","ICD9:353.0"],"information_content":95.4}
{"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":"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: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":"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: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: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: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":"MONDO:0004592","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"impetigo","equivalent_identifiers":["MONDO:0004592","DOID:8504","EFO:1000714","UMLS:C0021099","UMLS:C0376186","MESH:D007169","MEDDRA:10021531","MEDDRA:10021535","NCIT:C99088","SNOMEDCT:48277006","medgen:9440","icd11.foundation:971176543","ICD10:L01","ICD10:L01.0","ICD9:684"],"information_content":92.8}
{"id":"MONDO:0004593","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bartholin cyst","equivalent_identifiers":["MONDO:0004593","DOID:851","UMLS:C0004767","MEDDRA:10004140","MEDDRA:10011741","NCIT:C26706","SNOMEDCT:57044006","medgen:14032","ICD10:N75.0","ICD9:616.2","HP:0430134"],"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":"MONDO:0004597","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary embolism and infarction","equivalent_identifiers":["MONDO:0004597","DOID:8516","EFO:1001408","UMLS:C0034066","UMLS:C0034074","MESH:D054060","MEDDRA:10021760","MEDDRA:10037409","MEDDRA:10037410","NCIT:C50714","SNOMEDCT:1001000119102","SNOMEDCT:64662007","medgen:19577","ICD9:415.1"],"information_content":100.0}
{"id":"MONDO:0004608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oropharynx cancer","equivalent_identifiers":["MONDO:0004608","DOID:8557","EFO:1001931","UMLS:C0153382","UMLS:C0153388","UMLS:C0153389","UMLS:C0153390","UMLS:C3165521","MESH:D009959","MEDDRA:10026005","MEDDRA:10026064","MEDDRA:10026184","MEDDRA:10026185","MEDDRA:10026378","NCIT:C194050","NCIT:C194051","NCIT:C7398","SNOMEDCT:187688008","SNOMEDCT:363392002","SNOMEDCT:448868009","SNOMEDCT:93862005","medgen:57783","ICD10:C10","ICD10:C10.2","ICD10:C10.3","ICD10:C10.8","ICD9:146","ICD9:146.5","ICD9:146.6","ICD9:146.7"],"information_content":69.6}
{"id":"MONDO:0004609","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"herpes simplex","equivalent_identifiers":["MONDO:0004609","DOID:8566","EFO:1002022","UMLS:C0019348","MESH:D006561","MEDDRA:10019948","MEDDRA:10019957","MEDDRA:10063570","NCIT:C155871","SNOMEDCT:88594005","medgen:9234","ICD10:B00.9","ICD9:054"],"information_content":81.3}
{"id":"MONDO:0004612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant histiocytosis","equivalent_identifiers":["MONDO:0004612","DOID:2570","UMLS:C0019613","UMLS:C0019623","MESH:D015620","MEDDRA:10025581","MEDDRA:10027591","MEDDRA:10028772","MEDDRA:10036088","NCIT:C7202","SNOMEDCT:118612006","SNOMEDCT:127070008","SNOMEDCT:128920006","medgen:5569"],"information_content":100.0}
{"id":"MONDO:0004613","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute intestinal ischemia","equivalent_identifiers":["MONDO:0004613","DOID:8590","UMLS:C0001363","MEDDRA:10001108","NCIT:C34356","SNOMEDCT:91489000","medgen:116","ICD9:557.0"],"information_content":100.0}
{"id":"MONDO:0004616","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"herpetic whitlow","equivalent_identifiers":["MONDO:0004616","DOID:8607","UMLS:C0153042","MEDDRA:10020005","NCIT:C128402","SNOMEDCT:43891009","medgen:509122","ICD9:054.6"],"information_content":100.0}
{"id":"MONDO:0004618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diplegia of upper limb","equivalent_identifiers":["MONDO:0004618","DOID:862","UMLS:C0154701","MEDDRA:10013034","NCIT:C196040","SNOMEDCT:54099005","medgen:509631","ICD10:G83.0","ICD9:344.2"],"information_content":100.0}
{"id":"MONDO:0004619","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"measles","equivalent_identifiers":["MONDO:0004619","DOID:8622","EFO:1002025","UMLS:C0025007","MESH:D008457","MEDDRA:10027011","MEDDRA:10039282","MEDDRA:10039290","NCIT:C96406","SNOMEDCT:14189004","medgen:6252","icd11.foundation:1826431497","ICD10:B05","ICD9:055"],"information_content":100.0}
{"id":"MONDO:0004622","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic intestinal vascular insufficiency","equivalent_identifiers":["MONDO:0004622","DOID:8633","UMLS:C0311262","MEDDRA:10009161","SNOMEDCT:111354009","medgen:90228","ICD9:557.1"],"information_content":100.0}
{"id":"MONDO:0004625","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phlebitis","equivalent_identifiers":["MONDO:0004625","DOID:864","EFO:1001395","UMLS:C0031542","MESH:D010689","MEDDRA:10034879","MEDDRA:10034899","NCIT:C38003","SNOMEDCT:61599003","medgen:18425","ICD10:I80"],"information_content":87.2}
{"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":"MONDO:0004628","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastroduodenitis","equivalent_identifiers":["MONDO:0004628","DOID:8644","UMLS:C0029800","UMLS:C0267166","MEDDRA:10048714","SNOMEDCT:196731005","medgen:540445","ICD9:535.4"],"information_content":100.0}
{"id":"MONDO:0004629","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subacute delirium","equivalent_identifiers":["MONDO:0004629","DOID:8645","UMLS:C0154333","MEDDRA:10042274","MEDDRA:10042275","SNOMEDCT:191507002","medgen:56340","ICD9:293.1"],"information_content":100.0}
{"id":"MONDO:0004630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"substance-induced psychosis","equivalent_identifiers":["MONDO:0004630","DOID:8646","UMLS:C0033941","UMLS:C0154334","medgen:18746","ICD9:293.89"],"information_content":95.4}
{"id":"MONDO:0004631","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tongue cancer","equivalent_identifiers":["MONDO:0004631","DOID:8649","UMLS:C0153349","UMLS:C0153350","UMLS:C0153351","UMLS:C0153354","UMLS:C0153356","UMLS:C0474963","UMLS:C0496755","UMLS:C0684333","MESH:D014062","MEDDRA:10025702","MEDDRA:10025733","MEDDRA:10025884","MEDDRA:10026006","MEDDRA:10026075","MEDDRA:10026537","MEDDRA:10026538","MEDDRA:10026630","MEDDRA:10026703","MEDDRA:10026704","MEDDRA:10043966","NCIT:C194029","NCIT:C194030","NCIT:C194031","NCIT:C194033","NCIT:C3524","NCIT:C9345","SNOMEDCT:187633009","SNOMEDCT:187637005","SNOMEDCT:187644001","SNOMEDCT:363360003","SNOMEDCT:363375006","SNOMEDCT:363376007","SNOMEDCT:363377003","SNOMEDCT:371974006","medgen:102262","ICD10:C01","ICD10:C02.0","ICD10:C02.1","ICD10:C02.2","ICD10:C02.4","ICD10:C02.9","ICD9:141","ICD9:141.0","ICD9:141.1","ICD9:141.2","ICD9:141.3","ICD9:141.5","ICD9:141.6"],"information_content":78.0}
{"id":"MONDO:0004634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vein disorder","equivalent_identifiers":["MONDO:0004634","DOID:866","UMLS:C0155774","UMLS:C0235522","MEDDRA:10033035","MEDDRA:10047184","MEDDRA:10047185","MEDDRA:10047225","NCIT:C35279","SNOMEDCT:90507008","medgen:115992","ICD10:I82","ICD9:453"],"information_content":77.1}
{"id":"MONDO:0004639","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"perinatal necrotizing enterocolitis","equivalent_identifiers":["MONDO:0004639","DOID:8677","UMLS:C4082937","SNOMEDCT:397729009","medgen:906305","ICD10:K55.3"],"information_content":100.0}
{"id":"MONDO:0004641","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin carcinoma in situ","equivalent_identifiers":["MONDO:0004641","DOID:8687","UMLS:C0154073","UMLS:C0154074","UMLS:C0154077","UMLS:C0154078","UMLS:C0154079","UMLS:C0154080","UMLS:C0154081","UMLS:C0347139","MEDDRA:10007390","MEDDRA:10007391","MEDDRA:10007393","MEDDRA:10007394","MEDDRA:10007396","MEDDRA:10007397","MEDDRA:10007398","MEDDRA:10056763","MEDDRA:10056764","MEDDRA:10056787","NCIT:C194918","NCIT:C3640","SNOMEDCT:189291009","SNOMEDCT:255144005","SNOMEDCT:92734000","SNOMEDCT:92735004","SNOMEDCT:92747005","SNOMEDCT:92749008","medgen:102308","ICD10:D04","ICD10:D04.0","ICD10:D04.2","ICD10:D04.3","ICD10:D04.4","ICD10:D04.6","ICD10:D04.7","ICD9:232","ICD9:232.0","ICD9:232.2","ICD9:232.3","ICD9:232.4","ICD9:232.5","ICD9:232.6","ICD9:232.7"],"information_content":87.2}
{"id":"MONDO:0004646","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"decubitus ulcer","equivalent_identifiers":["MONDO:0004646","DOID:8717","EFO:0007067","UMLS:C0011127","UMLS:C4554531","MESH:D003668","MEDDRA:10004196","MEDDRA:10011985","MEDDRA:10036651","MEDDRA:10077779","MEDDRA:10087614","MEDDRA:10087615","NCIT:C50706","SNOMEDCT:1163214006","SNOMEDCT:1163215007","SNOMEDCT:399912005","SNOMEDCT:420226006","medgen:1789997","ICD10:L89","ICD9:707.0","HP:0012399"],"information_content":95.4}
{"id":"MONDO:0004647","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"in situ carcinoma","equivalent_identifiers":["MONDO:0004647","DOID:8719","UMLS:C0007099","MESH:D002278","MEDDRA:10007353","MEDDRA:10007402","MEDDRA:10061450","NCIT:C2917","SNOMEDCT:109355002","SNOMEDCT:1187138006","medgen:763","ICD10:D09.9","ICD9:230-234.99"],"information_content":66.9}
{"id":"MONDO:0004650","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant carotid body paraganglioma","equivalent_identifiers":["MONDO:0004650","DOID:8731","UMLS:C0153656","UMLS:C5972501","MEDDRA:10025816","NCIT:C3574","SNOMEDCT:16822006","SNOMEDCT:447883002","medgen:56318","ICD10:C75.4","ICD9:194.5"],"information_content":100.0}
{"id":"MONDO:0004651","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"smallpox","equivalent_identifiers":["MONDO:0004651","DOID:8736","UMLS:C0037354","MESH:D012899","MEDDRA:10041197","MEDDRA:10041198","NCIT:C35027","SNOMEDCT:67924001","medgen:20785","icd11.foundation:2054716425","ICD10:B03","ICD9:050"],"information_content":92.8}
{"id":"MONDO:0004653","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical chronic myeloid leukemia, BCR-ABL1 negative","equivalent_identifiers":["MONDO:0004653","DOID:0060597","orphanet:98824","UMLS:C0279549","UMLS:C1292772","MESH:D054438","MEDDRA:10028554","MEDDRA:10028559","MEDDRA:10042292","MEDDRA:10042295","MEDDRA:10054651","MEDDRA:10060421","NCIT:C3519","NCIT:C9129","SNOMEDCT:128826001","SNOMEDCT:277589003","medgen:266233","icd11.foundation:331838766","ICD10:C92.2","ICD9:205.2"],"information_content":87.2}
{"id":"MONDO:0004656","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rubella","equivalent_identifiers":["MONDO:0004656","DOID:8781","EFO:1002026","UMLS:C0035920","MESH:D012409","MEDDRA:10018206","MEDDRA:10039252","NCIT:C85051","SNOMEDCT:36653000","medgen:48514","icd11.foundation:410022648","ICD10:B06.9","ICD9:056"],"information_content":90.9}
{"id":"MONDO:0004660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung carcinoma in situ","equivalent_identifiers":["MONDO:0004660","DOID:8800","UMLS:C0154071","UMLS:C0685053","UMLS:C4520773","MEDDRA:10007098","MEDDRA:10007100","MEDDRA:10007437","MEDDRA:10007438","MEDDRA:10025047","MEDDRA:10025058","MEDDRA:10025066","MEDDRA:10025071","MEDDRA:10025073","MEDDRA:10037350","MEDDRA:10037352","NCIT:C194869","NCIT:C27467","SNOMEDCT:189262006","SNOMEDCT:92649001","medgen:146894","ICD10:D02.2","ICD9:231.2"],"information_content":89.4}
{"id":"MONDO:0004664","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"helminthiasis","equivalent_identifiers":["MONDO:0004664","DOID:883","EFO:1001342","UMLS:C0018889","MESH:D006373","MEDDRA:10019380","MEDDRA:10019382","MEDDRA:10061201","NCIT:C84751","SNOMEDCT:27601005","medgen:6765","ICD10:B83.9","ICD9:120-129.99"],"information_content":71.3}
{"id":"MONDO:0004668","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fascioliasis","equivalent_identifiers":["MONDO:0004668","DOID:885","EFO:1001324","UMLS:C0015652","UMLS:C1331532","MESH:D005211","MEDDRA:10016233","MEDDRA:10016234","MEDDRA:10024688","NCIT:C128387","SNOMEDCT:111922007","SNOMEDCT:240798009","SNOMEDCT:82308007","medgen:41969","icd11.foundation:656408831","ICD10:B66.3","ICD9:121.3"],"information_content":100.0}
{"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:0004670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lupus erythematosus","equivalent_identifiers":["MONDO:0004670","DOID:8857","UMLS:C0409974","MEDDRA:10025134","NCIT:C27153","SNOMEDCT:200936003","medgen:98043","icd11.foundation:1443317238","ICD10:L93","ICD9:695.4"],"information_content":75.3}
{"id":"MONDO:0004671","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"penis carcinoma in situ","equivalent_identifiers":["MONDO:0004671","DOID:8872","UMLS:C0154089","MEDDRA:10007384","MEDDRA:10034328","MEDDRA:10037732","NCIT:C27790","SNOMEDCT:18348002","SNOMEDCT:398831006","SNOMEDCT:400092004","SNOMEDCT:92679008","medgen:102309","ICD10:D07.4","ICD9:233.5"],"information_content":90.9}
{"id":"MONDO:0004672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fasciolopsiasis","equivalent_identifiers":["MONDO:0004672","DOID:888","orphanet:658909","UMLS:C0015656","MEDDRA:10016235","MEDDRA:10016236","NCIT:C128388","SNOMEDCT:54266002","medgen:5125","icd11.foundation:830824191","ICD10:B66.5","ICD9:121.4"],"information_content":100.0}
{"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":"MONDO:0004675","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial encephalomyopathy","equivalent_identifiers":["MONDO:0004675","DOID:890","UMLS:C0162666","MESH:D017237","MEDDRA:10058799","SNOMEDCT:447292006","medgen:57960"],"information_content":83.1}
{"id":"MONDO:0004677","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tinea nigra","equivalent_identifiers":["MONDO:0004677","DOID:8912","UMLS:C0152067","MESH:C000656904","MEDDRA:10043871","SNOMEDCT:183342005","SNOMEDCT:185367005","SNOMEDCT:186289000","medgen:508865","icd11.foundation:1723085409","ICD10:B36.1","ICD9:111.1"],"information_content":100.0}
{"id":"MONDO:0004678","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatophytosis","equivalent_identifiers":["MONDO:0004678","DOID:8913","UMLS:C0011636","MEDDRA:10012504","MEDDRA:10012505","MEDDRA:10012516","NCIT:C26745","SNOMEDCT:47382004","medgen:3768","icd11.foundation:1802307036","ICD9:110"],"information_content":83.1}
{"id":"MONDO:0004681","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"learning disability","equivalent_identifiers":["MONDO:0004681","DOID:8927","UMLS:C0023186","UMLS:C0751265","UMLS:C1330966","MESH:D007859","MEDDRA:10024092","MEDDRA:10024093","MEDDRA:10024094","MEDDRA:10061265","MEDDRA:10086731","NCIT:C89334","SNOMEDCT:1855002","medgen:199623","ICD10:F81.9"],"information_content":80.9}
{"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: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: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":"MONDO:0004694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatopulmonary syndrome","equivalent_identifiers":["MONDO:0004694","DOID:900","EFO:1001346","UMLS:C0600452","MESH:D020065","MEDDRA:10052274","NCIT:C197912","SNOMEDCT:371067004","medgen:109071","icd11.foundation:866605228","ICD10:K76.81","ICD9:573.5"],"information_content":100.0}
{"id":"MONDO:0004697","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophageal leukoplakia","equivalent_identifiers":["MONDO:0004697","DOID:9021","UMLS:C0267095","MEDDRA:10015385","MEDDRA:10024389","MEDDRA:10062463","MEDDRA:10072766","NCIT:C3953","SNOMEDCT:89057003","medgen:75628","ICD9:530.83","HP:0012859"],"information_content":100.0}
{"id":"MONDO:0004699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastrointestinal lymphoma","equivalent_identifiers":["MONDO:0004699","DOID:903","UMLS:C0740372","MEDDRA:10017973","NCIT:C38162","SNOMEDCT:449072004","medgen:148147"],"information_content":70.6}
{"id":"MONDO:0004703","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bladder carcinoma in situ","equivalent_identifiers":["MONDO:0004703","DOID:9053","UMLS:C0154091","UMLS:C4551642","MEDDRA:10007356","MEDDRA:10007357","MEDDRA:10007400","NCIT:C3644","SNOMEDCT:92546004","medgen:57584","ICD10:D09.0","ICD9:233.7"],"information_content":100.0}
{"id":"MONDO:0004707","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anal canal carcinoma in situ","equivalent_identifiers":["MONDO:0004707","DOID:9087","UMLS:C0154064","UMLS:C2242854","UMLS:C4521060","MEDDRA:10002134","MEDDRA:10002142","MEDDRA:10007354","MEDDRA:10007355","NCIT:C157575","NCIT:C7794","SNOMEDCT:92531006","SNOMEDCT:92537005","medgen:412201","ICD9:230.6"],"information_content":95.4}
{"id":"MONDO:0004712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"herpes simplex dermatitis","equivalent_identifiers":["MONDO:0004712","DOID:9123","UMLS:C0022504","UMLS:C0153037","UMLS:C0854331","UMLS:C0936250","MESH:D007617","MEDDRA:10014197","MEDDRA:10019950","MEDDRA:10019951","MEDDRA:10051891","NCIT:C35620","SNOMEDCT:186535001","SNOMEDCT:186544000","medgen:163132","ICD10:B00.0","ICD9:054.0","ICD9:054.41"],"information_content":100.0}
{"id":"MONDO:0004714","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrophic muscular disease","equivalent_identifiers":["MONDO:0004714","DOID:913","UMLS:C0752352","MESH:D020966","NCIT:C84574","medgen:156267"],"information_content":100.0}
{"id":"MONDO:0004720","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"variola minor","equivalent_identifiers":["MONDO:0004720","DOID:9153","UMLS:C0001906","MEDDRA:10001555","NCIT:C34365","SNOMEDCT:72294005","medgen:1393","ICD9:050.1"],"information_content":100.0}
{"id":"MONDO:0004724","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"submandibular gland cancer","equivalent_identifiers":["MONDO:0004724","DOID:9173","UMLS:C0153360","MEDDRA:10026500","NCIT:C3526","SNOMEDCT:363380002","medgen:57782","ICD10:C08.0","ICD9:142.1"],"information_content":81.3}
{"id":"MONDO:0004728","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetic macular edema","equivalent_identifiers":["MONDO:0004728","DOID:9191","EFO:0009321","UMLS:C0730285","MEDDRA:10057915","MEDDRA:10057934","SNOMEDCT:312912001","medgen:676494","ICD9:362.07"],"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: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":"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":"MONDO:0004736","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inborn disorder of amino acid metabolism","equivalent_identifiers":["MONDO:0004736","DOID:9252","UMLS:C0002514","UMLS:C5886841","MESH:D000592","MEDDRA:10001938","MEDDRA:10021602","MEDDRA:10045768","MEDDRA:10084108","NCIT:C97090","SNOMEDCT:42930003","medgen:1857273","ICD10:E72.9","ICD9:270"],"information_content":61.4}
{"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":"MONDO:0004739","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urea cycle disorder","equivalent_identifiers":["MONDO:0004739","DOID:9267","orphanet:79167","UMLS:C0154246","MESH:D056806","MEDDRA:10013373","MEDDRA:10080020","NCIT:C84785","SNOMEDCT:36444000","medgen:57586","ICD10:E72.2","ICD9:270.6"],"information_content":80.6}
{"id":"MONDO:0004741","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tyrosinemia","equivalent_identifiers":["MONDO:0004741","DOID:9275","OMIM.PS:276700","UMLS:C0268483","UMLS:C0268486","MESH:D020176","MEDDRA:10063443","MEDDRA:10063446","NCIT:C98640","SNOMEDCT:190694001","SNOMEDCT:271847005","medgen:78682","ICD10:E70.21"],"information_content":89.4}
{"id":"MONDO:0004742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary cerebellar degeneration","equivalent_identifiers":["MONDO:0004742","DOID:9277","UMLS:C0033132","UMLS:C0037952","MESH:D013132","MEDDRA:10036686","MEDDRA:10041620","MEDDRA:10041621","MEDDRA:10041622","MEDDRA:10046176","MEDDRA:10061551","SNOMEDCT:23732000","SNOMEDCT:91502009","medgen:19466","ICD9:334.2"],"information_content":100.0}
{"id":"MONDO:0004743","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperhomocysteinemia","equivalent_identifiers":["MONDO:0004743","DOID:9279","OMIM:603174","UMLS:C0598608","MESH:D020138","MEDDRA:10051286","MEDDRA:10055180","NCIT:C84770","SNOMEDCT:419503008","medgen:108623"],"information_content":100.0}
{"id":"MONDO:0004744","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Preglaucoma","equivalent_identifiers":["MONDO:0004744","DOID:9283","UMLS:C0549470","UMLS:C1533674","MEDDRA:10006027","MEDDRA:10006028","MEDDRA:10036555","SNOMEDCT:193531003","medgen:735885","ICD10:H40.00","ICD9:365.00"],"information_content":92.8}
{"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: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":"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":"MONDO:0004751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orbital disease","equivalent_identifiers":["MONDO:0004751","DOID:930","UMLS:C0029182","MESH:D009916","MEDDRA:10031040","MEDDRA:10054717","SNOMEDCT:371436007","medgen:45214","ICD10:H05.9","ICD9:376.9"],"information_content":80.9}
{"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:0004755","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"monieziasis","equivalent_identifiers":["MONDO:0004755","DOID:931","EFO:1001372","UMLS:C0026414","MESH:D008989","medgen:6424"],"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:0004759","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"zoophilia","equivalent_identifiers":["MONDO:0004759","DOID:9336","UMLS:C0152186","MEDDRA:10004492","MEDDRA:10048285","SNOMEDCT:81463002","medgen:508916","ICD9:302.1"],"information_content":100.0}
{"id":"MONDO:0004760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urethral false passage","equivalent_identifiers":["MONDO:0004760","DOID:9339","UMLS:C0156286","MEDDRA:10046450","SNOMEDCT:74944002","medgen:510227","ICD10:N36.5","ICD9:599.4"],"information_content":100.0}
{"id":"MONDO:0004762","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Taylor syndrome","equivalent_identifiers":["MONDO:0004762","DOID:9346","UMLS:C0152078","MEDDRA:10034240","MEDDRA:10034241","SNOMEDCT:39402007","medgen:508874","ICD9:625.5"],"information_content":100.0}
{"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":"MONDO:0004767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vesiculitis","equivalent_identifiers":["MONDO:0004767","DOID:9365","UMLS:C0042588","MEDDRA:10039954","NCIT:C12787","SNOMEDCT:27001009","medgen:508285","ICD10:N49.0","ICD9:608.0"],"information_content":77.3}
{"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":"MONDO:0004769","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orbital pseudotumor","equivalent_identifiers":["MONDO:0004769","DOID:9369","EFO:1001077","UMLS:C0085270","MESH:D016727","MEDDRA:10069692","MEDDRA:10069693","MEDDRA:10075997","SNOMEDCT:72789009","medgen:43140"],"information_content":100.0}
{"id":"MONDO:0004772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glaucomatocyclitic crisis","equivalent_identifiers":["MONDO:0004772","DOID:9378","orphanet:636950","UMLS:C0152138","MEDDRA:10018333","SNOMEDCT:29538005","medgen:508902","ICD9:364.22"],"information_content":100.0}
{"id":"MONDO:0004778","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epididymo-orchitis","equivalent_identifiers":["MONDO:0004778","DOID:9401","UMLS:C0149881","MEDDRA:10015005","MEDDRA:10015008","SNOMEDCT:197983000","medgen:508448","icd11.foundation:1745517194","ICD10:N45.3","ICD9:604"],"information_content":92.8}
{"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: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: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: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: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:0004794","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exposure keratitis","equivalent_identifiers":["MONDO:0004794","DOID:9461","UMLS:C0339295","MEDDRA:10015706","MEDDRA:10078951","MEDDRA:10081254","SNOMEDCT:14366000","medgen:87383","icd11.foundation:1261495652","ICD10:H16.21","ICD9:370.34"],"information_content":100.0}
{"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:0004796","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"meningitis","equivalent_identifiers":["MONDO:0004796","DOID:9471","EFO:0000584","UMLS:C0729584","MEDDRA:10053638","NCIT:C79598","SNOMEDCT:312216007","medgen:152668","ICD9:322.9"],"information_content":79.9}
{"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":"MONDO:0004804","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dacryoadenitis","equivalent_identifiers":["MONDO:0004804","DOID:950","UMLS:C0155223","MEDDRA:10011840","MEDDRA:10011842","NCIT:C26971","SNOMEDCT:86927009","medgen:102328","ICD10:H04.0","ICD9:375.0"],"information_content":90.9}
{"id":"MONDO:0004805","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukocyte disorder","equivalent_identifiers":["MONDO:0004805","DOID:9500","UMLS:C0023510","MESH:D007960","MEDDRA:10013112","MEDDRA:10045761","MEDDRA:10047953","MEDDRA:10047954","MEDDRA:10061414","SNOMEDCT:54097007","medgen:7325","ICD10:D72.9","ICD9:288"],"information_content":61.2}
{"id":"MONDO:0004808","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign mammary dysplasia","equivalent_identifiers":["MONDO:0004808","DOID:9504","UMLS:C0156319","UMLS:C1305934","MEDDRA:10004285","MEDDRA:10004286","MEDDRA:10006238","MEDDRA:10026731","SNOMEDCT:57993004","medgen:726820","ICD9:610.8"],"information_content":100.0}
{"id":"MONDO:0004815","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteosclerotic plasma cell myeloma","equivalent_identifiers":["MONDO:0004815","DOID:9541","UMLS:C1510415","UMLS:C3898068","NCIT:C7765","SNOMEDCT:425657001","medgen:857662"],"information_content":100.0}
{"id":"MONDO:0004821","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasopharyngeal disorder","equivalent_identifiers":["MONDO:0004821","DOID:9561","UMLS:C0027438","MESH:D009302","MEDDRA:10057538","NCIT:C35723","SNOMEDCT:123952009","medgen:45007"],"information_content":70.0}
{"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:0004824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal candidiasis","equivalent_identifiers":["MONDO:0004824","DOID:9577","UMLS:C0276682","MEDDRA:10028924","NCIT:C116810","SNOMEDCT:414821002","medgen:547484","ICD10:P37.5","ICD9:771.7"],"information_content":100.0}
{"id":"MONDO:0004826","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Urethral Stone","equivalent_identifiers":["MONDO:0004826","DOID:9589","UMLS:C0162301","MEDDRA:10006993","MEDDRA:10007026","MEDDRA:10046430","NCIT:C26995","SNOMEDCT:20342001","medgen:57664","ICD10:N21.1","ICD9:594.2"],"information_content":100.0}
{"id":"MONDO:0004828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lower urinary tract calculus","equivalent_identifiers":["MONDO:0004828","DOID:9590","UMLS:C0156264","MEDDRA:10007015","MEDDRA:10007016","SNOMEDCT:79509009","medgen:510219","ICD10:N21","ICD9:594"],"information_content":89.4}
{"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:0004831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proliferative fasciitis","equivalent_identifiers":["MONDO:0004831","DOID:9599","UMLS:C0432528","NCIT:C4728","SNOMEDCT:1295239009","SNOMEDCT:254737002","medgen:98496"],"information_content":100.0}
{"id":"MONDO:0004833","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"plantar fasciitis","equivalent_identifiers":["MONDO:0004833","DOID:9600","EFO:1001909","UMLS:C0149756","MESH:D036981","MEDDRA:10016239","MEDDRA:10035155","MEDDRA:10066146","SNOMEDCT:202882003","medgen:56201","icd11.foundation:254630809"],"information_content":100.0}
{"id":"MONDO:0004834","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ischemic fasciitis","equivalent_identifiers":["MONDO:0004834","DOID:9601","UMLS:C1304514","NCIT:C6483","SNOMEDCT:1295240006","SNOMEDCT:403990005","medgen:220988"],"information_content":100.0}
{"id":"MONDO:0004835","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"necrotizing fasciitis","equivalent_identifiers":["MONDO:0004835","DOID:9602","UMLS:C0238124","MESH:D019115","MEDDRA:10016229","MEDDRA:10028885","MEDDRA:10028886","MEDDRA:10055643","MEDDRA:10055647","MEDDRA:10056877","MEDDRA:10056882","NCIT:C84916","SNOMEDCT:52486002","medgen:66763","ICD10:M72.6","ICD9:728.86"],"information_content":100.0}
{"id":"MONDO:0004838","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orthostatic proteinuria","equivalent_identifiers":["MONDO:0004838","DOID:9617","UMLS:C0232867","MEDDRA:10031124","MEDDRA:10031129","MEDDRA:10036435","SNOMEDCT:32482005","medgen:534880","icd11.foundation:2144070055","ICD10:R80.2","ICD9:593.6"],"information_content":100.0}
{"id":"MONDO:0004841","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kidney hypertrophy","equivalent_identifiers":["MONDO:0004841","DOID:9622","UMLS:C0156259","MEDDRA:10020888","MEDDRA:10038468","NCIT:C122991","SNOMEDCT:88531004","medgen:510218","ICD10:N28.81","ICD9:593.1"],"information_content":100.0}
{"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: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":"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: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":"MONDO:0004854","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ophthalmia neonatorum","equivalent_identifiers":["MONDO:0004854","DOID:9699","UMLS:C0027611","UMLS:C0029076","MESH:D009878","MEDDRA:10028931","MEDDRA:10030861","NCIT:C116815","SNOMEDCT:206345004","SNOMEDCT:34298002","medgen:14489","ICD10:P39.1","ICD9:771.6"],"information_content":100.0}
{"id":"MONDO:0004855","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tenosynovitis","equivalent_identifiers":["MONDO:0004855","DOID:970","EFO:1001435","UMLS:C0039520","MESH:D013717","MEDDRA:10043261","MEDDRA:10063127","MEDDRA:10067216","MEDDRA:10078642","SNOMEDCT:67801009","medgen:52670","icd11.foundation:163006370"],"information_content":92.8}
{"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":"MONDO:0004859","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hydrops of gallbladder","equivalent_identifiers":["MONDO:0004859","DOID:9717","UMLS:C0152445","MEDDRA:10017637","MEDDRA:10020530","MEDDRA:10054390","MEDDRA:10056972","SNOMEDCT:47312008","medgen:509035","icd11.foundation:532595534","ICD10:K82.1","ICD9:575.3"],"information_content":100.0}
{"id":"MONDO:0004860","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitreous disorder","equivalent_identifiers":["MONDO:0004860","DOID:9720","UMLS:C0029872","UMLS:C0700141","medgen:1843447","ICD10:H43.39","ICD9:379.24"],"information_content":75.3}
{"id":"MONDO:0004861","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ophthalmia nodosa","equivalent_identifiers":["MONDO:0004861","DOID:9722","UMLS:C0154775","MEDDRA:10030863","SNOMEDCT:12371008","medgen:509654","icd11.foundation:691596189","ICD10:H16.24","ICD9:360.14"],"information_content":100.0}
{"id":"MONDO:0004867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"upper respiratory tract disorder","equivalent_identifiers":["MONDO:0004867","DOID:974","UMLS:C0264221","SNOMEDCT:201060008","medgen:538406"],"information_content":66.4}
{"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:0004877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transient neonatal thrombocytopenia","equivalent_identifiers":["MONDO:0004877","DOID:9771","UMLS:C0158991","MEDDRA:10044394","SNOMEDCT:23205009","medgen:472906","ICD10:P61.0","ICD9:776.1"],"information_content":100.0}
{"id":"MONDO:0004880","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bowel dysfunction","equivalent_identifiers":["MONDO:0004880","DOID:9779","UMLS:C0016807","UMLS:C2004461","MEDDRA:10006051","MEDDRA:10022650","MEDDRA:10061247","SNOMEDCT:235594008","SNOMEDCT:81120009","medgen:384468","ICD10:K59.9","ICD9:564.9"],"information_content":79.9}
{"id":"MONDO:0004881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myositis fibrosa","equivalent_identifiers":["MONDO:0004881","DOID:9788","UMLS:C0158362","MEDDRA:10022613","NCIT:C26985","SNOMEDCT:55925001","medgen:57855","ICD10:M60.1","ICD9:728.81"],"information_content":100.0}
{"id":"MONDO:0004884","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eye degenerative disorder","equivalent_identifiers":["MONDO:0004884","DOID:9799","UMLS:C0154777","MEDDRA:10012169","MEDDRA:10015914","MEDDRA:10061127","SNOMEDCT:62585004","medgen:509655","ICD10:H44.5","ICD9:360.4"],"information_content":73.6}
{"id":"MONDO:0004885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choroidal sclerosis","equivalent_identifiers":["MONDO:0004885","DOID:980","UMLS:C0344297","MESH:C535358","MEDDRA:10008781","MEDDRA:10052486","SNOMEDCT:247199007","SNOMEDCT:406446000","medgen:137998","ICD10:H31.10","ICD9:363.4"],"information_content":87.2}
{"id":"MONDO:0004890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"partial central choroid dystrophy","equivalent_identifiers":["MONDO:0004890","DOID:9822","UMLS:C0339427","MEDDRA:10007930","SNOMEDCT:193468002","medgen:573145","ICD9:363.53"],"information_content":100.0}
{"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":"MONDO:0004892","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ametropia","equivalent_identifiers":["MONDO:0004892","DOID:9835","UMLS:C0034951","UMLS:C1527310","MESH:D012030","MEDDRA:10001936","MEDDRA:10013262","MEDDRA:10015136","MEDDRA:10038264","MEDDRA:10038265","MEDDRA:10038268","NCIT:C34371","NCIT:C87145","SNOMEDCT:39021009","medgen:20508","ICD10:H52.7"],"information_content":75.3}
{"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":"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: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":"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":"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:0004902","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"interstitial keratitis","equivalent_identifiers":["MONDO:0004902","DOID:9857","UMLS:C0155088","MEDDRA:10022609","MEDDRA:10022610","MEDDRA:10023335","SNOMEDCT:1763009","medgen:509779","ICD10:H16.30","ICD9:370.50"],"information_content":95.4}
{"id":"MONDO:0004904","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toxic maculopathy","equivalent_identifiers":["MONDO:0004904","DOID:9867","UMLS:C0271086","MEDDRA:10044230","SNOMEDCT:44115007","medgen:543164","icd11.foundation:1889317154","ICD10:H35.38","ICD9:362.55"],"information_content":100.0}
{"id":"MONDO:0004905","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal disaccharidase deficiency","equivalent_identifiers":["MONDO:0004905","DOID:9868","EFO:1000060","UMLS:C0021830","UMLS:C0699848","MEDDRA:10022644","MEDDRA:10078209","NCIT:C34731","SNOMEDCT:22169002","SNOMEDCT:267427000","medgen:675093","ICD9:271.3"],"information_content":86.3}
{"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":"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: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: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: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":"MONDO:0004922","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental coordination disorder","equivalent_identifiers":["MONDO:0004922","DOID:9923","UMLS:C0011757","UMLS:C0026613","MESH:D019957","MEDDRA:10012557","MEDDRA:10012558","MEDDRA:10012567","NCIT:C92561","SNOMEDCT:268674003","SNOMEDCT:27544004","SNOMEDCT:4949009","medgen:41511","ICD10:F82","ICD9:315.4"],"information_content":100.0}
{"id":"MONDO:0004925","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic dacryocystitis","equivalent_identifiers":["MONDO:0004925","DOID:9937","UMLS:C0149506","MEDDRA:10008854","SNOMEDCT:84627005","medgen:508388","icd11.foundation:617640909","ICD10:H04.41","ICD9:375.42"],"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: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:0004928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymph node disorder","equivalent_identifiers":["MONDO:0004928","DOID:9942","UMLS:C0272394","MEDDRA:10049158","NCIT:C35346","SNOMEDCT:76616003","medgen:78802"],"information_content":73.7}
{"id":"MONDO:0004930","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"steroid-induced glaucoma","equivalent_identifiers":["MONDO:0004930","DOID:9946","UMLS:C0339578","UMLS:C2012155","MEDDRA:10011174","MEDDRA:10018329","SNOMEDCT:1654001","medgen:573238","ICD9:365.3"],"information_content":95.4}
{"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: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:0004936","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uterine inversion","equivalent_identifiers":["MONDO:0004936","DOID:997","EFO:1001446","UMLS:C0162482","UMLS:C0269886","MESH:D019687","MEDDRA:10029921","MEDDRA:10046796","SNOMEDCT:23885003","SNOMEDCT:27215002","medgen:57916","ICD10:N85.5","ICD9:665.2"],"information_content":100.0}
{"id":"MONDO:0004937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypervitaminosis D","equivalent_identifiers":["MONDO:0004937","DOID:9971","UMLS:C0242154","UMLS:C1442839","MEDDRA:10011839","MEDDRA:10020917","SNOMEDCT:10553007","SNOMEDCT:27712000","medgen:730644","icd11.foundation:602997191","ICD10:E67.3","ICD9:278.4"],"information_content":100.0}
{"id":"MONDO:0004938","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dependence","equivalent_identifiers":["MONDO:0004938","DOID:9973","UMLS:C0038580","UMLS:C0439857","MEDDRA:10012335","MEDDRA:10076595","NCIT:C35458","SNOMEDCT:103326000","SNOMEDCT:1254812006","SNOMEDCT:2403008","SNOMEDCT:255338002","medgen:20989"],"information_content":80.9}
{"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":"MONDO:0004948","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"B-cell chronic lymphocytic leukemia","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":"MONDO:0004952","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Hodgkin Disease","equivalent_identifiers":["MONDO:0004952","DOID:8567","orphanet:98293","EFO:0000183","MESH:D006689","NCIT:C9357","icd11.foundation:1528863768","ICD10:C81","ICD9:201"],"information_content":64.7}
{"id":"MONDO:0004957","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucinous adenocarcinoma","equivalent_identifiers":["MONDO:0004957","DOID:3030","EFO:0000197","UMLS:C0007130","MESH:D002288","MEDDRA:10061564","NCIT:C26712","SNOMEDCT:72495009","medgen:2844","icd11.foundation:529352875"],"information_content":71.9}
{"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:0004965","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acinar cell carcinoma","equivalent_identifiers":["MONDO:0004965","DOID:3025","EFO:0000216","UMLS:C0206685","MESH:D018267","MEDDRA:10064646","NCIT:C3768","SNOMEDCT:45410002","medgen:61660","icd11.foundation:1322159869"],"information_content":76.7}
{"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:0004970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenocarcinoma","equivalent_identifiers":["MONDO:0004970","DOID:299","EFO:0000228","UMLS:C0001418","UMLS:C5551397","MESH:D000230","MEDDRA:10001141","MEDDRA:10001166","MEDDRA:10076630","NCIT:C2852","SNOMEDCT:1186968006","SNOMEDCT:1187332001","SNOMEDCT:443961001","medgen:122"],"information_content":50.5}
{"id":"MONDO:0004971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenoid cystic carcinoma","equivalent_identifiers":["MONDO:0004971","DOID:0080202","EFO:0000231","UMLS:C0010606","MESH:D003528","MEDDRA:10011729","MEDDRA:10053231","NCIT:C2970","SNOMEDCT:11671000","SNOMEDCT:302827006","medgen:41382","icd11.foundation:2127202862"],"information_content":74.5}
{"id":"MONDO:0004972","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenoma","equivalent_identifiers":["MONDO:0004972","DOID:657","EFO:0000232","UMLS:C0001430","UMLS:C0334389","MESH:D000236","MEDDRA:10001231","MEDDRA:10001233","MEDDRA:10001234","MEDDRA:10001236","NCIT:C2855","NCIT:C4196","SNOMEDCT:1187227004","SNOMEDCT:1187375007","SNOMEDCT:1187379001","SNOMEDCT:443416007","SNOMEDCT:79041005","medgen:125"],"information_content":60.6}
{"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: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":"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":"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":"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":"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":"MONDO:0004983","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"azoospermia","equivalent_identifiers":["MONDO:0004983","DOID:0111910","OMIM.PS:258150","EFO:0000279","UMLS:C3553794","medgen:766708"],"information_content":69.0}
{"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: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: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: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":"MONDO:0004997","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondroblastoma","equivalent_identifiers":["MONDO:0004997","DOID:2649","EFO:0000331","UMLS:C0008441","MESH:D002804","MEDDRA:10008686","NCIT:C2945","SNOMEDCT:9001003","medgen:40270","HP:0030432"],"information_content":92.8}
{"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: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":"MONDO:0005009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congestive heart failure","equivalent_identifiers":["MONDO:0005009","DOID:6000","EFO:0000373","NCIT:C3080","medgen:9169","icd11.foundation:2136808878","ICD10:I50","ICD10:I50.9","ICD9:428","ICD9:428.0"],"information_content":78.5}
{"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: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: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: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: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: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: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: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: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":"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":"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:0005039","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"reproductive system disorder","equivalent_identifiers":["MONDO:0005039","DOID:15","EFO:0000512","UMLS:C0178829","UMLS:C1335037","MEDDRA:10038610","MEDDRA:10061483","NCIT:C27613","NCIT:C4875","SNOMEDCT:362968007","medgen:61253"],"information_content":48.0}
{"id":"MONDO:0005040","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"germ cell tumor","equivalent_identifiers":["MONDO:0005040","DOID:2994","DOID:3095","EFO:0000514","UMLS:C0027658","UMLS:C0205851","MESH:D009373","MEDDRA:10075292","NCIT:C3708","SNOMEDCT:115233005","SNOMEDCT:402878003","medgen:60030"],"information_content":59.5}
{"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: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: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":"MONDO:0005046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immune system disorder","equivalent_identifiers":["MONDO:0005046","DOID:2914","EFO:0000540","UMLS:C0021053","UMLS:C0041806","UMLS:C1532237","MESH:D007154","MEDDRA:10013229","MEDDRA:10021418","MEDDRA:10021425","MEDDRA:10021426","MEDDRA:10021427","MEDDRA:10021428","MEDDRA:10045792","NCIT:C3507","SNOMEDCT:41266007","SNOMEDCT:414029004","medgen:5759","ICD10:D89.9","ICD9:279.9"],"information_content":50.9}
{"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:0005051","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"invasive lobular breast carcinoma","equivalent_identifiers":["MONDO:0005051","DOID:3457","EFO:0000553","UMLS:C0279565","MEDDRA:10024745","MEDDRA:10073096","MEDDRA:10087682","NCIT:C7950","medgen:75994"],"information_content":84.2}
{"id":"MONDO:0005052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"irritable bowel syndrome","equivalent_identifiers":["MONDO:0005052","DOID:9778","EFO:0000555","UMLS:C0022104","MESH:D043183","MEDDRA:10009897","MEDDRA:10009980","MEDDRA:10017494","MEDDRA:10023002","MEDDRA:10023003","MEDDRA:10023004","MEDDRA:10023005","MEDDRA:10028131","MEDDRA:10041409","MEDDRA:10089727","NCIT:C82343","SNOMEDCT:10743008","medgen:5897","icd11.foundation:1158238623","ICD10:K58","ICD9:564.1"],"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":"MONDO:0005057","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"large cell neuroendocrine carcinoma","equivalent_identifiers":["MONDO:0005057","DOID:0050872","EFO:0000563","UMLS:C1265996","NCIT:C6875","SNOMEDCT:128628002","medgen:220402","icd11.foundation:1278312485"],"information_content":73.4}
{"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: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: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":"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: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:0005071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nervous system disorder","equivalent_identifiers":["MONDO:0005071","DOID:863","EFO:0000618","UMLS:C0027765","MESH:D009422","MEDDRA:10013242","MEDDRA:10029202","MEDDRA:10029203","MEDDRA:10029205","MEDDRA:10029286","MEDDRA:10029298","NCIT:C26835","SNOMEDCT:118940003","medgen:14336","ICD9:349.9"],"information_content":42.8}
{"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:0005074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papillary cystadenocarcinoma","equivalent_identifiers":["MONDO:0005074","DOID:3110","EFO:0000639","UMLS:C0206700","MESH:D018283","NCIT:C3777","SNOMEDCT:2735009","medgen:64635"],"information_content":92.8}
{"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: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:0005077","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pertussis","equivalent_identifiers":["MONDO:0005077","DOID:1116","orphanet:1489","EFO:0000650","UMLS:C0043167","MESH:D014917","MEDDRA:10034738","MEDDRA:10047976","NCIT:C85231","SNOMEDCT:27836007","medgen:12159","KEGG.DISEASE:05133"],"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: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: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: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":"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":"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: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":"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":"MONDO:0005092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"signet ring cell carcinoma","equivalent_identifiers":["MONDO:0005092","DOID:3493","EFO:0000698","UMLS:C0206696","MESH:D018279","MEDDRA:10057266","NCIT:C3774","SNOMEDCT:87737001","medgen:61663"],"information_content":79.6}
{"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:0005094","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemangiopericytoma","equivalent_identifiers":["MONDO:0005094","DOID:264","UMLS:C0018922","MESH:D006393","MEDDRA:10018825","MEDDRA:10060541","NCIT:C3087","SNOMEDCT:128736003","SNOMEDCT:134335004","medgen:5478"],"information_content":78.0}
{"id":"MONDO:0005095","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloarthropathy","equivalent_identifiers":["MONDO:0005095","DOID:1123","EFO:0000706","UMLS:C0949691","MESH:D025242","MEDDRA:10051265","MEDDRA:10052775","MEDDRA:10056449","NCIT:C116778","medgen:181888"],"information_content":84.8}
{"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: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":"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: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: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:0005109","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HIV infection","equivalent_identifiers":["MONDO:0005109","DOID:526","EFO:0000764","UMLS:C0019693","MESH:D015658","MEDDRA:10020160","MEDDRA:10020161","MEDDRA:10020172","MEDDRA:10020443","NCIT:C3108","SNOMEDCT:86406008","medgen:5583","ICD10:B20","ICD9:042","ICD9:042-042.99"],"information_content":72.3}
{"id":"MONDO:0005111","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"EBV Infection","equivalent_identifiers":["MONDO:0005111","DOID:2938","EFO:0000769","UMLS:C0149678","MESH:D020031","MEDDRA:10014077","MEDDRA:10015107","MEDDRA:10015108","NCIT:C38759","SNOMEDCT:240530001","medgen:57439"],"information_content":67.1}
{"id":"MONDO:0005115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"temporal lobe epilepsy","equivalent_identifiers":["MONDO:0005115","DOID:3328","OMIM.PS:600512","orphanet:98819","EFO:0000773","UMLS:C0014556","MESH:D004833","MEDDRA:10010913","MEDDRA:10015045","MEDDRA:10037214","MEDDRA:10043209","NCIT:C177244","SNOMEDCT:1287669005","SNOMEDCT:193000002","SNOMEDCT:783739005","medgen:4990"],"information_content":84.8}
{"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":"MONDO:0005118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"human granulocytic ehrlichiosis","equivalent_identifiers":["MONDO:0005118","DOID:0050025","EFO:0000777","UMLS:C0483368","MEDDRA:10020430","SNOMEDCT:85708001","medgen:96911"],"information_content":100.0}
{"id":"MONDO:0005119","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anthrax disease","equivalent_identifiers":["MONDO:0005119","DOID:7427","EFO:0000778","UMLS:C0003175","MESH:D000881","MEDDRA:10002713","MEDDRA:10002716","MEDDRA:10003975","NCIT:C84565","SNOMEDCT:409498004","medgen:8110","ICD10:A22","ICD9:022"],"information_content":88.2}
{"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":"MONDO:0005125","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"borderline leprosy","equivalent_identifiers":["MONDO:0005125","DOID:1023","EFO:0001055","UMLS:C0023346","UMLS:C3251797","MESH:D015439","MEDDRA:10006029","MEDDRA:10006030","MEDDRA:10006031","SNOMEDCT:400008009","SNOMEDCT:400154003","medgen:7305","icd11.foundation:56771163","ICD10:A30.3","ICD9:030.3"],"information_content":100.0}
{"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":"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: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":"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":"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":"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: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: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: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":"MONDO:0005150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"age-related macular degeneration","equivalent_identifiers":["MONDO:0005150","DOID:10871","OMIM.PS:603075","EFO:0001365","UMLS:C0242383","MEDDRA:10025410","MEDDRA:10025411","MEDDRA:10039982","MEDDRA:10064930","NCIT:C84391","SNOMEDCT:267718000","medgen:116576","icd11.foundation:1514301548","ICD10:H35.30","ICD9:362.50"],"information_content":80.6}
{"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: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: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":"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":"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":"MONDO:0005161","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"human papilloma virus infection","equivalent_identifiers":["MONDO:0005161","DOID:11166","EFO:0001668","UMLS:C0343641","UMLS:C0950124","MESH:D030361","MEDDRA:10033723","MEDDRA:10033724","MEDDRA:10061331","MEDDRA:10063001","MEDDRA:10086964","MEDDRA:10086965","NCIT:C27851","SNOMEDCT:240532009","SNOMEDCT:30415006","medgen:87475"],"information_content":69.2}
{"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":"MONDO:0005165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign neoplasm","equivalent_identifiers":["MONDO:0005165","DOID:0060072","DOID:0060084","DOID:0060085","EFO:0002422","UMLS:C0086692","MEDDRA:10004299","MEDDRA:10004417","MEDDRA:10060999","NCIT:C3677","SNOMEDCT:20376005","SNOMEDCT:3898006","medgen:39483"],"information_content":51.0}
{"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":"MONDO:0005170","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloid neoplasm","equivalent_identifiers":["MONDO:0005170","DOID:0070004","EFO:0002427","UMLS:C2939461","NCIT:C9290","SNOMEDCT:414792005","medgen:445430"],"information_content":57.2}
{"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: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":"MONDO:0005180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Parkinson disease","equivalent_identifiers":["MONDO:0005180","DOID:14330","OMIM.PS:168600","UMLS:C0030567","MESH:D010300","MEDDRA:10013113","MEDDRA:10033801","MEDDRA:10034007","MEDDRA:10034008","MEDDRA:10061536","NCIT:C26845","SNOMEDCT:49049000","medgen:10590","icd11.foundation:296066191","ICD9:332","KEGG.DISEASE:05012"],"information_content":76.2}
{"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:0005183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian cystadenoma","equivalent_identifiers":["MONDO:0005183","DOID:3269","EFO:0002511","UMLS:C0346169","MEDDRA:10058334","NCIT:C4060","SNOMEDCT:198297004","medgen:138041","HP:6000672"],"information_content":88.2}
{"id":"MONDO:0005186","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cocaine dependence","equivalent_identifiers":["MONDO:0005186","DOID:9975","EFO:0002610","UMLS:C0600427","MEDDRA:10009815","MEDDRA:10009817","MEDDRA:10009821","MEDDRA:10012342","NCIT:C34492","SNOMEDCT:31956009","medgen:154705","icd11.foundation:1691013484","ICD10:F14.2","ICD9:304.2","HP:0033513"],"information_content":92.8}
{"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":"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:0005211","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian serous adenocarcinoma","equivalent_identifiers":["MONDO:0005211","DOID:0050933","DOID:5744","EFO:0002917","UMLS:C1335177","NCIT:C7550","medgen:233278"],"information_content":76.9}
{"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:0005214","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulva sarcoma","equivalent_identifiers":["MONDO:0005214","DOID:2096","EFO:0002920","UMLS:C0238525","NCIT:C40317","SNOMEDCT:254897006","medgen:65972"],"information_content":83.1}
{"id":"MONDO:0005215","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulva carcinoma","equivalent_identifiers":["MONDO:0005215","DOID:1294","orphanet:494418","EFO:0002921","UMLS:C0677055","UMLS:C3163813","MEDDRA:10051963","NCIT:C4866","SNOMEDCT:447882007","medgen:146159"],"information_content":70.6}
{"id":"MONDO:0005219","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast fibrocystic disease","equivalent_identifiers":["MONDO:0005219","DOID:10354","EFO:0003014","UMLS:C0016034","UMLS:C0205765","UMLS:C1527375","MESH:D005348","MEDDRA:10006222","MEDDRA:10006237","MEDDRA:10006250","MEDDRA:10006251","MEDDRA:10006252","MEDDRA:10012813","MEDDRA:10013100","MEDDRA:10013101","MEDDRA:10016620","MEDDRA:10016621","MEDDRA:10016622","NCIT:C3039","SNOMEDCT:27431007","medgen:42015","ICD10:N60.1","ICD9:610.1"],"information_content":84.8}
{"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":"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":"MONDO:0005231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatitis C","equivalent_identifiers":["MONDO:0005231","DOID:1883","EFO:0003047","UMLS:C0019196","MESH:D006526","MEDDRA:10019620","MEDDRA:10019718","MEDDRA:10019744","MEDDRA:10019786","MEDDRA:10029526","MEDDRA:10047457","NCIT:C3098","SNOMEDCT:128302006","SNOMEDCT:50711007","medgen:42425","ICD10:B19.20","ICD9:070.7"],"information_content":78.0}
{"id":"MONDO:0005232","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"large cell carcinoma","equivalent_identifiers":["MONDO:0005232","DOID:4552","UMLS:C0206704","MESH:D018287","NCIT:C3780","SNOMEDCT:22687000","medgen:61665"],"information_content":67.8}
{"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: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: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":"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: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":"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":"MONDO:0005259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Asperger syndrome","equivalent_identifiers":["MONDO:0005259","DOID:0050432","EFO:0003757","UMLS:C0236792","UMLS:C1306578","MESH:D020817","MEDDRA:10003484","MEDDRA:10003485","NCIT:C97159","SNOMEDCT:23560001","medgen:68633","icd11.foundation:366940030","ICD10:F84.5"],"information_content":86.3}
{"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":"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":"MONDO:0005266","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetic retinopathy","equivalent_identifiers":["MONDO:0005266","DOID:8947","EFO:0003770","UMLS:C0011884","MESH:D003930","MEDDRA:10012689","MEDDRA:10038925","NCIT:C34538","SNOMEDCT:4855003","medgen:3786","icd11.foundation:1006882070","ICD9:362.0"],"information_content":83.1}
{"id":"MONDO:0005267","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heart disorder","equivalent_identifiers":["MONDO:0005267","DOID:114","EFO:0003777","UMLS:C0018799","MESH:D006331","MEDDRA:10007540","MEDDRA:10007541","MEDDRA:10013199","MEDDRA:10019276","MEDDRA:10019277","MEDDRA:10061024","NCIT:C3079","SNOMEDCT:56265001","medgen:5458","ICD10:I51.9","ICD9:429.9"],"information_content":56.3}
{"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: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":"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: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":"MONDO:0005278","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"serous adenocarcinoma","equivalent_identifiers":["MONDO:0005278","DOID:3114","EFO:0003825","NCIT:C40101"],"information_content":70.9}
{"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: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":"MONDO:0005281","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gallbladder disorder","equivalent_identifiers":["MONDO:0005281","DOID:0060262","EFO:0003832","UMLS:C0016977","MESH:D005705","MEDDRA:10013103","MEDDRA:10017625","MEDDRA:10017626","MEDDRA:10017627","MEDDRA:10017628","MEDDRA:10017641","MEDDRA:10045789","MEDDRA:10087483","NCIT:C34631","SNOMEDCT:39621005","medgen:8947","ICD10:K82.9","ICD9:575.9"],"information_content":68.2}
{"id":"MONDO:0005282","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cutaneous lupus erythematosus","equivalent_identifiers":["MONDO:0005282","DOID:0050169","EFO:0003834","UMLS:C0024137","MESH:D008178","MEDDRA:10056509","NCIT:C26819","SNOMEDCT:7119001","medgen:7401","icd11.foundation:1401395930"],"information_content":83.1}
{"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":"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":"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: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: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: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: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: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":"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":"MONDO:0005301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple sclerosis","equivalent_identifiers":["MONDO:0005301","DOID:2377","EFO:0803536","UMLS:C0026769","MESH:D009103","MEDDRA:10013451","MEDDRA:10028053","MEDDRA:10028245","MEDDRA:10039720","NCIT:C3243","SNOMEDCT:24700007","medgen:10123","icd11.foundation:1298865187","ICD10:G35","ICD9:340"],"information_content":81.7}
{"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:0005303","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"drug dependence","equivalent_identifiers":["MONDO:0005303","DOID:9974","EFO:0003890","UMLS:C0029792","UMLS:C1510472","MEDDRA:10001127","MEDDRA:10012337","MEDDRA:10013658","MEDDRA:10013663","MEDDRA:10013666","MEDDRA:10013677","MEDDRA:10045850","NCIT:C3894","SNOMEDCT:191816009","medgen:307144","ICD9:304.60","HP:0033511"],"information_content":81.3}
{"id":"MONDO:0005306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ankylosing spondylitis","equivalent_identifiers":["MONDO:0005306","DOID:7147","EFO:0003898","UMLS:C0038013","UMLS:C0038020","MESH:D013167","MEDDRA:10002556","MEDDRA:10039082","MEDDRA:10041671","MEDDRA:10041672","MEDDRA:10048811","MEDDRA:10054041","MEDDRA:10058813","MEDDRA:10089563","NCIT:C84564","SNOMEDCT:9631008","medgen:11561","ICD10:M45","ICD9:720.0"],"information_content":92.8}
{"id":"MONDO:0005308","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ciliopathy","equivalent_identifiers":["MONDO:0005308","DOID:0060340","orphanet:363250","EFO:0003900","UMLS:C4277690","MESH:D000072661","medgen:908923"],"information_content":64.7}
{"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:0005314","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"relapsing-remitting multiple sclerosis","equivalent_identifiers":["MONDO:0005314","DOID:2378","EFO:0003929","UMLS:C0751967","MESH:D020529","MEDDRA:10063399","NCIT:C165675","SNOMEDCT:426373005","medgen:155669","icd11.foundation:799053936"],"information_content":100.0}
{"id":"MONDO:0005316","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bacterial vaginosis","equivalent_identifiers":["MONDO:0005316","DOID:3385","EFO:0003932","UMLS:C0085166","MESH:D016585","MEDDRA:10004055","MEDDRA:10029562","MEDDRA:10046956","MEDDRA:10046960","MEDDRA:10046961","MEDDRA:10062167","NCIT:C116973","SNOMEDCT:419760006","medgen:43118","icd11.foundation:63323819"],"information_content":100.0}
{"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: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:0005333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperthyroxinemia","equivalent_identifiers":["MONDO:0005333","DOID:2855","EFO:0004127","UMLS:C0020551","MESH:D006981","NCIT:C131850","medgen:6973"],"information_content":82.1}
{"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":"MONDO:0005338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"open-angle glaucoma","equivalent_identifiers":["MONDO:0005338","DOID:1067","DOID:1070","EFO:0004190","UMLS:C0017612","UMLS:C0311339","UMLS:C1411998","MESH:D005902","MEDDRA:10030348","MEDDRA:10030349","MEDDRA:10030856","MEDDRA:10030857","MEDDRA:10035015","MEDDRA:10071290","NCIT:C34641","SNOMEDCT:111513000","SNOMEDCT:46168003","SNOMEDCT:84494001","medgen:6611","ICD10:H40.1","ICD10:H40.11","ICD9:365.1","ICD9:365.11"],"information_content":82.1}
{"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: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":"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":"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:0005344","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatitis B","equivalent_identifiers":["MONDO:0005344","DOID:2043","EFO:0004197","UMLS:C0019163","MESH:D006509","MEDDRA:10019731","MEDDRA:10040284","MEDDRA:10047450","NCIT:C3097","SNOMEDCT:66071002","medgen:6807"],"information_content":90.9}
{"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":"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: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: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":"MONDO:0005352","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conduct disorder","equivalent_identifiers":["MONDO:0005352","DOID:12995","EFO:0004216","UMLS:C0149654","MESH:D019955","MEDDRA:10045849","MEDDRA:10064279","MEDDRA:10064288","MEDDRA:10064478","NCIT:C89329","SNOMEDCT:430909002","medgen:56196","ICD10:F91","ICD9:312.9"],"information_content":100.0}
{"id":"MONDO:0005357","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Creutzfeldt Jacob disease","equivalent_identifiers":["MONDO:0005357","DOID:11949","EFO:0004226","UMLS:C0022336","MESH:D007562","MEDDRA:10009216","MEDDRA:10009217","MEDDRA:10011382","MEDDRA:10011384","MEDDRA:10023116","MEDDRA:10023117","MEDDRA:10055172","NCIT:C26802","SNOMEDCT:792004","medgen:7179","ICD10:A81.0","ICD9:046.1"],"information_content":86.3}
{"id":"MONDO:0005361","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eosinophilic esophagitis","equivalent_identifiers":["MONDO:0005361","DOID:13922","EFO:0004232","UMLS:C0341106","MESH:D057765","MEDDRA:10064212","MEDDRA:10064220","NCIT:C27105","SNOMEDCT:235599003","medgen:83318","ICD10:K20.0","ICD9:530.13"],"information_content":90.9}
{"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: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:0005367","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heroin dependence","equivalent_identifiers":["MONDO:0005367","DOID:9976","EFO:0004240","UMLS:C0019337","MESH:D006556","MEDDRA:10019935","NCIT:C34694","SNOMEDCT:231477003","medgen:5532","icd11.foundation:443161089","HP:0033517"],"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: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":"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: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":"MONDO:0005381","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bone disorder","equivalent_identifiers":["MONDO:0005381","DOID:0080001","EFO:0004260","UMLS:C0005940","MESH:D001847","MEDDRA:10005956","MEDDRA:10005957","MEDDRA:10005958","MEDDRA:10013194","SNOMEDCT:76069003","medgen:14182","ICD10:M89.9"],"information_content":50.6}
{"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:0005383","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"panic disorder","equivalent_identifiers":["MONDO:0005383","DOID:594","EFO:0004262","UMLS:C0030319","MESH:D016584","MEDDRA:10033666","MEDDRA:10033667","NCIT:C34890","SNOMEDCT:371631005","medgen:14588","icd11.foundation:56162827","ICD10:F41.0"],"information_content":87.2}
{"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:0005386","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peripheral arterial disease","equivalent_identifiers":["MONDO:0005386","DOID:0050830","EFO:0004265","UMLS:C1306889","MESH:D058729","MEDDRA:10062585","MEDDRA:10072121","MEDDRA:10087836","MEDDRA:10087838","NCIT:C78533","NCIT:C84496","SNOMEDCT:399957001","medgen:352846"],"information_content":95.4}
{"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":"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: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":"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: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: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":"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":"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:0005404","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myalgic encephalomeyelitis/chronic fatigue syndrome","equivalent_identifiers":["MONDO:0005404","DOID:8544","EFO:0004540","UMLS:C0015674","MESH:D015673","MEDDRA:10008874","MEDDRA:10028414","MEDDRA:10039246","MEDDRA:10057244","NCIT:C3037","SNOMEDCT:51771007","SNOMEDCT:52702003","medgen:5130","ICD10:G93.32","ICD9:780.71"],"information_content":100.0}
{"id":"MONDO:0005405","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"childhood onset asthma","equivalent_identifiers":["MONDO:0005405","DOID:0080815","UMLS:C0264408","MEDDRA:10081274","SNOMEDCT:233678006","medgen:538550"],"information_content":95.4}
{"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":"MONDO:0005411","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gallbladder cancer","equivalent_identifiers":["MONDO:0005411","DOID:3121","UMLS:C0153452","UMLS:C0278806","MEDDRA:10017614","MEDDRA:10017615","MEDDRA:10017616","MEDDRA:10017618","MEDDRA:10017634","MEDDRA:10025940","MEDDRA:10025945","MEDDRA:10073919","NCIT:C35676","NCIT:C7481","SNOMEDCT:363353009","medgen:57784","ICD10:C23","ICD9:156.0"],"information_content":71.1}
{"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":"MONDO:0005417","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"wet macular degeneration","equivalent_identifiers":["MONDO:0005417","DOID:10873","EFO:0004683","UMLS:C0271084","UMLS:C2237660","MESH:D057135","MEDDRA:10015902","MEDDRA:10062970","MEDDRA:10067791","MEDDRA:10071129","MEDDRA:10075718","SNOMEDCT:414173003","medgen:389185","ICD10:H35.32","ICD9:362.52"],"information_content":100.0}
{"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":"MONDO:0005425","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"podoconiosis","equivalent_identifiers":["MONDO:0005425","DOID:0050138","EFO:0004712","UMLS:C1280469","MEDDRA:10090382","SNOMEDCT:47595008","SNOMEDCT:890181005","medgen:473377"],"information_content":95.4}
{"id":"MONDO:0005429","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prion disease","equivalent_identifiers":["MONDO:0005429","DOID:649","EFO:0004720","UMLS:C0162534","UMLS:C4281802","MESH:D017096","MEDDRA:10036760","MEDDRA:10079301","MEDDRA:10080750","NCIT:C128346","SNOMEDCT:20484008","SNOMEDCT:230284004","medgen:56445","ICD10:A81.9","KEGG.DISEASE:05020"],"information_content":80.6}
{"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":"MONDO:0005440","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"embryonal carcinoma","equivalent_identifiers":["MONDO:0005440","DOID:3308","orphanet:180226","EFO:0004986","UMLS:C0206659","UMLS:C0855159","MESH:D018236","MEDDRA:10015789","NCIT:C3752","NCIT:C8880","SNOMEDCT:1156454002","SNOMEDCT:28047004","medgen:61653"],"information_content":79.9}
{"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:0005445","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kala-Azar","equivalent_identifiers":["MONDO:0005445","DOID:9146","OMIM.PS:608207","EFO:0005045","UMLS:C0023290","MESH:D007898","MEDDRA:10023275","MEDDRA:10024196","MEDDRA:10024200","MEDDRA:10047505","MEDDRA:10054164","NCIT:C34771","SNOMEDCT:186803007","medgen:44098","icd11.foundation:1646564717","ICD10:B55.0","ICD9:085.0"],"information_content":90.9}
{"id":"MONDO:0005447","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular cancer","equivalent_identifiers":["MONDO:0005447","DOID:2998","EFO:0005088","UMLS:C0153594","MESH:D013736","MEDDRA:10026527","MEDDRA:10043302","MEDDRA:10043322","MEDDRA:10043362","MEDDRA:10057644","NCIT:C7251","SNOMEDCT:363449006","medgen:56313","ICD10:C62","ICD9:186"],"information_content":66.9}
{"id":"MONDO:0005451","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eating disorder","equivalent_identifiers":["MONDO:0005451","DOID:8670","EFO:0005203","UMLS:C0013473","UMLS:C4042784","MESH:D001068","MEDDRA:10014062","MEDDRA:10014066","MEDDRA:10014067","NCIT:C89332","SNOMEDCT:72366004","medgen:4434","ICD10:F50","ICD9:307.50"],"information_content":67.4}
{"id":"MONDO:0005452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bulimia nervosa","equivalent_identifiers":["MONDO:0005452","DOID:12129","EFO:0005204","UMLS:C2267227","MESH:D052018","MEDDRA:10006550","NCIT:C34440","SNOMEDCT:78004001","medgen:389218","icd11.foundation:509381842","ICD10:F50.2"],"information_content":95.4}
{"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:0005454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung neuroendocrine neoplasm","equivalent_identifiers":["MONDO:0005454","DOID:5410","EFO:0005220","UMLS:C1334452","NCIT:C5670","SNOMEDCT:707594002","medgen:277303"],"information_content":70.8}
{"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":"MONDO:0005460","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"swine influenza","equivalent_identifiers":["MONDO:0005460","DOID:0050211","EFO:0005226","UMLS:C0276357","UMLS:C2076600","MEDDRA:10069500","MEDDRA:10069767","NCIT:C80444","SNOMEDCT:442696006","medgen:1385137"],"information_content":100.0}
{"id":"MONDO:0005462","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primitive neuroectodermal tumor","equivalent_identifiers":["MONDO:0005462","DOID:171","EFO:0005235","UMLS:C0206663","MESH:D017599","MESH:D018242","MEDDRA:10057846","MEDDRA:10057849","NCIT:C3716","SNOMEDCT:39781001","SNOMEDCT:55045006","SNOMEDCT:699028006","medgen:64627","HP:0030065"],"information_content":68.0}
{"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:0005484","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"colorectal adenoma","equivalent_identifiers":["MONDO:0005484","DOID:0050860","DOID:0050914","EFO:0005406","UMLS:C1302401","MEDDRA:10087276","NCIT:C5673","SNOMEDCT:399432003","medgen:224904"],"information_content":76.2}
{"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:0005487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizoaffective disorder","equivalent_identifiers":["MONDO:0005487","DOID:5418","EFO:0005411","UMLS:C0036337","UMLS:C1456872","MEDDRA:10039613","MEDDRA:10039621","MEDDRA:10039622","MEDDRA:10039635","NCIT:C94378","SNOMEDCT:191567000","SNOMEDCT:68890003","medgen:11334","icd11.foundation:106339515","ICD10:F25","ICD9:295.7"],"information_content":92.8}
{"id":"MONDO:0005489","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyslexia","equivalent_identifiers":["MONDO:0005489","DOID:4428","EFO:0005424","MESH:D004410","NCIT:C96410","medgen:96906","icd11.foundation:1843588689","ICD10:F81.0"],"information_content":84.8}
{"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":"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":"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":"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:0005504","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diphtheria","equivalent_identifiers":["MONDO:0005504","DOID:11405","orphanet:1679","EFO:0005549","UMLS:C0010153","UMLS:C0012546","UMLS:C1301422","MESH:D003354","MESH:D004165","MEDDRA:10011210","MEDDRA:10011212","MEDDRA:10013023","MEDDRA:10013025","MEDDRA:10054237","MEDDRA:10061092","NCIT:C34541","SNOMEDCT:276197005","SNOMEDCT:397428000","SNOMEDCT:397430003","SNOMEDCT:397434007","medgen:4334","icd11.foundation:508032285"],"information_content":86.3}
{"id":"MONDO:0005505","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysembryoplastic neuroepithelial tumor","equivalent_identifiers":["MONDO:0005505","DOID:2679","orphanet:251946","EFO:0005551","UMLS:C1266177","MEDDRA:10072668","MEDDRA:10072677","NCIT:C9505","SNOMEDCT:128788005","SNOMEDCT:87211000119104","medgen:266109","HP:0033703"],"information_content":92.8}
{"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: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":"MONDO:0005511","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"janus kinase-3 deficiency","equivalent_identifiers":["MONDO:0005511","DOID:0060008","EFO:0005565"],"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":"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:0005515","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oral cavity cancer","equivalent_identifiers":["MONDO:0005515","DOID:8618","EFO:0005570","UMLS:C0153369","UMLS:C0153381","UMLS:C0496758","MEDDRA:10025701","MEDDRA:10026050","MEDDRA:10026152","MEDDRA:10026660","MEDDRA:10028018","MEDDRA:10031001","NCIT:C194037","NCIT:C194038","NCIT:C9314","NCIT:C9316","SNOMEDCT:187652003","SNOMEDCT:187653008","SNOMEDCT:363505006","medgen:56298","ICD10:C04","ICD10:C04.0","ICD10:C04.1","ICD9:144","ICD9:144.0","ICD9:144.1"],"information_content":64.3}
{"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:0005517","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pharynx cancer","equivalent_identifiers":["MONDO:0005517","DOID:0060119","EFO:0005577","UMLS:C0153405","MESH:D010610","MEDDRA:10026346","MEDDRA:10034811","MEDDRA:10034819","MEDDRA:10034857","NCIT:C7545","SNOMEDCT:363507003","medgen:57554"],"information_content":63.3}
{"id":"MONDO:0005518","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pseudohermaphroditism","equivalent_identifiers":["MONDO:0005518","DOID:3765","EFO:0005579","UMLS:C0021193","UMLS:C0033804","MEDDRA:10037122","MEDDRA:10037125","NCIT:C124575","SNOMEDCT:75164001","medgen:10991","ICD10:Q56","ICD10:Q56.3","ICD9:752.7"],"information_content":95.4}
{"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:0005522","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"small intestine carcinoma","equivalent_identifiers":["MONDO:0005522","DOID:4907","EFO:0005588","UMLS:C0238196","UMLS:C3164749","MEDDRA:10041123","MEDDRA:10054184","NCIT:C7724","SNOMEDCT:448664009","medgen:65952","icd11.foundation:1484520499"],"information_content":73.0}
{"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":"MONDO:0005527","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurotoxicity","equivalent_identifiers":["MONDO:0005527","DOID:3602","EFO:0005595","EFO:0011057","UMLS:C0149504","UMLS:C0235032","MESH:D020258","MEDDRA:10014638","MEDDRA:10029350","MEDDRA:10029351","MEDDRA:10044221","MEDDRA:10044227","NCIT:C27961","SNOMEDCT:19466003","SNOMEDCT:28394000"],"information_content":87.2}
{"id":"MONDO:0005530","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"opiate dependence","equivalent_identifiers":["MONDO:0005530","DOID:2559","EFO:0005611","EFO:0010702","UMLS:C0027412","UMLS:C0524662","UMLS:C4237238","UMLS:C4237239","UMLS:C4268216","UMLS:C4324621","UMLS:C4509040","UMLS:C4509041","UMLS:C4509042","UMLS:C4509043","MESH:D009293","MEDDRA:10012346","MEDDRA:10030892","MEDDRA:10030896","MEDDRA:10079385","SNOMEDCT:1336192000","SNOMEDCT:75544000","medgen:99372","ICD10:F11.2","ICD9:304.00","HP:0033515"],"information_content":90.9}
{"id":"MONDO:0005531","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"morphine dependence","equivalent_identifiers":["MONDO:0005531","DOID:2560","EFO:0005612","UMLS:C0026552","MESH:D009021","SNOMEDCT:231479000","medgen:7706","icd11.foundation:337142707"],"information_content":100.0}
{"id":"MONDO:0005532","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Crohn's colitis","equivalent_identifiers":["MONDO:0005532","DOID:0060192","EFO:0005622","UMLS:C0156147","MEDDRA:10011400","MEDDRA:10011402","MEDDRA:10038281","MEDDRA:10057032","NCIT:C35211","NCIT:C37262","SNOMEDCT:50440006","medgen:57618","ICD10:K50.1","ICD9:555.1"],"information_content":100.0}
{"id":"MONDO:0005534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ileocolitis","equivalent_identifiers":["MONDO:0005534","DOID:0060190","EFO:0005624","UMLS:C0949272","MEDDRA:10062647","medgen:184943"],"information_content":100.0}
{"id":"MONDO:0005538","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"proctitis","equivalent_identifiers":["MONDO:0005538","DOID:3127","EFO:0005628","UMLS:C0033246","MESH:D011349","MEDDRA:10036774","MEDDRA:10036782","NCIT:C38011","SNOMEDCT:3951002","medgen:46113","ICD10:K62.89"],"information_content":89.4}
{"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:0005546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibromyalgia","equivalent_identifiers":["MONDO:0005546","DOID:631","EFO:0005687","UMLS:C0016053","MESH:D005356","MEDDRA:10016631","MEDDRA:10016663","MEDDRA:10028363","MEDDRA:10048439","MEDDRA:10063041","MEDDRA:10079197","NCIT:C50566","NCIT:C87497","SNOMEDCT:203082005","SNOMEDCT:203102006","SNOMEDCT:56557000","SNOMEDCT:726531007","medgen:42018","ICD10:M79.7"],"information_content":95.4}
{"id":"MONDO:0005554","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rheumatism","equivalent_identifiers":["MONDO:0005554","DOID:1575","DOID:854","EFO:0005755","UMLS:C0009326","UMLS:C0035435","UMLS:C0041785","MESH:D003095","MESH:D012216","MEDDRA:10009903","MEDDRA:10009904","MEDDRA:10013207","MEDDRA:10039068","MEDDRA:10039070","MEDDRA:10045746","NCIT:C27204","SNOMEDCT:396332003","SNOMEDCT:81573002","medgen:3157"],"information_content":63.6}
{"id":"MONDO:0005555","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cycloplegia","equivalent_identifiers":["MONDO:0005555","DOID:10033","EFO:0005758","UMLS:C0235238","MEDDRA:10000391","MEDDRA:10011719","MEDDRA:10033986","SNOMEDCT:68158006","medgen:536368","ICD10:H52.52","ICD9:367.51"],"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":"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: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":"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:0005561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortic disorder","equivalent_identifiers":["MONDO:0005561","DOID:520","EFO:0005775","UMLS:C0003493","MESH:D001018","MEDDRA:10058648","NCIT:C101253","SNOMEDCT:47040006","medgen:1618"],"information_content":74.5}
{"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:0005565","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blastoma","equivalent_identifiers":["MONDO:0005565","DOID:0070003","DOID:4766","EFO:0005785","UMLS:C0936282","MEDDRA:10087341","NCIT:C8997","medgen:181704"],"information_content":83.1}
{"id":"MONDO:0005566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal abstinence syndrome","equivalent_identifiers":["MONDO:0005566","DOID:9828","EFO:0005799","UMLS:C0027609","UMLS:C1332133","MESH:D009357","MEDDRA:10013755","MEDDRA:10013756","MEDDRA:10048012","MEDDRA:10074192","NCIT:C35808","NCIT:C87101","SNOMEDCT:414819007","medgen:10207","ICD10:P96.1","ICD9:779.5"],"information_content":100.0}
{"id":"MONDO:0005567","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"substance withdrawal syndrome","equivalent_identifiers":["MONDO:0005567","DOID:0060001","EFO:0005800","UMLS:C0038587","MESH:D013375","MEDDRA:10042854","MEDDRA:10048010","NCIT:C35046","SNOMEDCT:1254795002","SNOMEDCT:363101005","medgen:20990"],"information_content":85.5}
{"id":"MONDO:0005568","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Trash foot","equivalent_identifiers":["MONDO:0005568","DOID:1461","EFO:0005801","UMLS:C0149649","UMLS:C0585266","MESH:D017700","MEDDRA:10079261","SNOMEDCT:10690002","SNOMEDCT:307406004","medgen:57437","ICD10:I75","ICD9:445"],"information_content":92.8}
{"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: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":"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: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: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":"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: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:0005605","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transitional cell papilloma","equivalent_identifiers":["MONDO:0005605","DOID:2670","EFO:0006497","UMLS:C0334266","NCIT:C4115","SNOMEDCT:44342003","medgen:137734"],"information_content":83.1}
{"id":"MONDO:0005609","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"herpes zoster","equivalent_identifiers":["MONDO:0005609","DOID:8536","EFO:0006510","UMLS:C0019360","MESH:D006562","MEDDRA:10019974","MEDDRA:10019982","MEDDRA:10040555","MEDDRA:10067526","MEDDRA:10081165","NCIT:C71079","SNOMEDCT:4740000","medgen:42437","ICD10:B02","ICD9:053"],"information_content":90.9}
{"id":"MONDO:0005614","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic adenosquamous carcinoma","equivalent_identifiers":["MONDO:0005614","DOID:5637","EFO:0006732","UMLS:C1335299","NCIT:C5721","medgen:277489"],"information_content":90.9}
{"id":"MONDO:0005615","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"plasmacytoma","equivalent_identifiers":["MONDO:0005615","DOID:3721","orphanet:86855","EFO:0006738","UMLS:C0032131","MESH:D010954","MEDDRA:10035229","MEDDRA:10035484","MEDDRA:10073875","NCIT:C6932","NCIT:C9349","SNOMEDCT:1187107005","SNOMEDCT:415112005","medgen:18506","icd11.foundation:1811140613","ICD10:C90.3","HP:0011857"],"information_content":79.6}
{"id":"MONDO:0005618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anxiety disorder","equivalent_identifiers":["MONDO:0005618","DOID:2030","EFO:0006788","UMLS:C0003469","MESH:D001008","MEDDRA:10057666","NCIT:C2878","SNOMEDCT:197480006","medgen:361","ICD10:F41.9"],"information_content":78.3}
{"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: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":"MONDO:0005627","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"head and neck cancer","equivalent_identifiers":["MONDO:0005627","DOID:11934","EFO:0006859","UMLS:C0278996","MEDDRA:10067821","NCIT:C4013","medgen:78920"],"information_content":52.1}
{"id":"MONDO:0005630","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"actinobacillosis","equivalent_identifiers":["MONDO:0005630","DOID:4974","EFO:0007127","UMLS:C0001247","MESH:D000187","SNOMEDCT:16140007"],"information_content":100.0}
{"id":"MONDO:0005631","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"actinomycosis","equivalent_identifiers":["MONDO:0005631","DOID:8478","orphanet:457095","EFO:0007128","UMLS:C0001261","MESH:D000196","MEDDRA:10000620","MEDDRA:10000624","MEDDRA:10000627","NCIT:C34350","medgen:1733","icd11.foundation:1697630330","ICD10:A42","ICD9:039.9"],"information_content":90.9}
{"id":"MONDO:0005632","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute chest syndrome","equivalent_identifiers":["MONDO:0005632","DOID:1584","EFO:0007129","UMLS:C0742343","MESH:D056586","MEDDRA:10051895","NCIT:C138179","SNOMEDCT:372146004","medgen:196643","ICD9:517.3"],"information_content":100.0}
{"id":"MONDO:0005634","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute hemorrhagic conjunctivitis","equivalent_identifiers":["MONDO:0005634","DOID:11227","EFO:0007131","UMLS:C0009765","MESH:D003232","MEDDRA:10014973","MEDDRA:10014974","MEDDRA:10067817","MEDDRA:10067818","NCIT:C34505","SNOMEDCT:398264003","medgen:1094","ICD9:077.4"],"information_content":100.0}
{"id":"MONDO:0005635","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenomyoma","equivalent_identifiers":["MONDO:0005635","DOID:2609","EFO:0007133","UMLS:C0206622","MESH:D018194","MEDDRA:10063549","NCIT:C3726","SNOMEDCT:40293003","medgen:64617"],"information_content":84.2}
{"id":"MONDO:0005636","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenosarcoma","equivalent_identifiers":["MONDO:0005636","DOID:1974","EFO:0007134","UMLS:C0001442","MESH:D018195","NCIT:C9474","SNOMEDCT:31470003","medgen:126"],"information_content":80.2}
{"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":"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:0005644","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amebiasis","equivalent_identifiers":["MONDO:0005644","DOID:9181","EFO:0007144","UMLS:C0002438","MESH:D000562","MEDDRA:10001916","MEDDRA:10001917","MEDDRA:10001918","MEDDRA:10001980","MEDDRA:10001981","MEDDRA:10001982","MEDDRA:10001983","NCIT:C157785","NCIT:C84551","SNOMEDCT:105637008","SNOMEDCT:111910009","medgen:1857","ICD10:A06","ICD9:006"],"information_content":92.8}
{"id":"MONDO:0005645","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ancylostomiasis","equivalent_identifiers":["MONDO:0005645","DOID:12841","orphanet:78","EFO:0007145","UMLS:C0002831","MESH:D000724","MEDDRA:10002255","NCIT:C35805","SNOMEDCT:63479002","medgen:1522","icd11.foundation:1542252776","ICD10:B76.0"],"information_content":90.9}
{"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":"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:0005649","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"appendicitis","equivalent_identifiers":["MONDO:0005649","DOID:8337","EFO:0007149","UMLS:C0003615","MESH:D001064","MEDDRA:10003011","MEDDRA:10003014","MEDDRA:10045550","NCIT:C35145","SNOMEDCT:74400008","medgen:1630","icd11.foundation:1881255733","ICD10:K37","ICD9:540-543.99","HP:6000143"],"information_content":95.4}
{"id":"MONDO:0005654","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ascariasis","equivalent_identifiers":["MONDO:0005654","DOID:456","EFO:0007154","UMLS:C0003950","MESH:D001196","MEDDRA:10003442","NCIT:C128392","SNOMEDCT:2435008","medgen:2087","icd11.foundation:17842540","ICD10:B77","ICD9:127.0"],"information_content":95.4}
{"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":"MONDO:0005659","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atrophic rhinitis","equivalent_identifiers":["MONDO:0005659","DOID:4731","EFO:0007159","UMLS:C0030105","UMLS:C0035459","MESH:D012222","MEDDRA:10003689","MEDDRA:10033335","MEDDRA:10039088","SNOMEDCT:28111002","SNOMEDCT:69646003","medgen:48450"],"information_content":100.0}
{"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:0005662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"balantidiasis","equivalent_identifiers":["MONDO:0005662","DOID:12386","orphanet:1223","EFO:0007163","UMLS:C0004692","MESH:D001447","MEDDRA:10004080","NCIT:C84583","SNOMEDCT:105638003","SNOMEDCT:57725006","medgen:2540","icd11.foundation:2090337975","ICD10:A07.0","ICD9:007.0"],"information_content":100.0}
{"id":"MONDO:0005663","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Barre-Lieou syndrome","equivalent_identifiers":["MONDO:0005663","DOID:6692","EFO:0007165","UMLS:C0376378","UMLS:C2355645","MESH:D055010","MEDDRA:10008336","MEDDRA:10042744","MEDDRA:10068282","NCIT:C34411","SNOMEDCT:17300000","medgen:87688","ICD10:M53.0"],"information_content":100.0}
{"id":"MONDO:0005664","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bartonellosis","equivalent_identifiers":["MONDO:0005664","DOID:11102","EFO:0007166","UMLS:C0004771","MESH:D001474","MEDDRA:10004145","MEDDRA:10044583","MEDDRA:10054150","MEDDRA:10080447","NCIT:C84586","SNOMEDCT:266123003","medgen:504","icd11.foundation:1938462328","ICD10:A44","ICD9:088.0"],"information_content":88.2}
{"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":"MONDO:0005667","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"biliary dyskinesia","equivalent_identifiers":["MONDO:0005667","DOID:4140","EFO:0007169","UMLS:C0005416","MESH:D001657","MEDDRA:10056529","MEDDRA:10087760","SNOMEDCT:197432008","medgen:2627","HP:0012396"],"information_content":92.8}
{"id":"MONDO:0005669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"black piedra","equivalent_identifiers":["MONDO:0005669","DOID:12711","EFO:0007171","UMLS:C0153249","MEDDRA:10004975","SNOMEDCT:33666009","medgen:452132","icd11.foundation:1990974193","ICD10:B36.3","ICD9:111.3"],"information_content":100.0}
{"id":"MONDO:0005670","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blackwater fever","equivalent_identifiers":["MONDO:0005670","DOID:14068","EFO:0007172","UMLS:C0005681","MESH:D001742","MEDDRA:10004984","NCIT:C34426","SNOMEDCT:56625005","medgen:2277","ICD9:084.8"],"information_content":100.0}
{"id":"MONDO:0005672","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blastomycosis","equivalent_identifiers":["MONDO:0005672","DOID:12663","EFO:0007174","UMLS:C0005716","UMLS:C0005717","MESH:D001759","MEDDRA:10005094","MEDDRA:10005096","MEDDRA:10005098","MEDDRA:10005099","NCIT:C34428","NCIT:C34429","SNOMEDCT:191950004","SNOMEDCT:69996000","medgen:597","icd11.foundation:1968108845","ICD10:B40","ICD9:116.0"],"information_content":95.4}
{"id":"MONDO:0005673","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"blind loop syndrome","equivalent_identifiers":["MONDO:0005673","DOID:10606","EFO:0007175","UMLS:C0005750","MESH:D001765","MEDDRA:10005166","MEDDRA:10041904","MEDDRA:10041956","NCIT:C34431","SNOMEDCT:66379009","SNOMEDCT:77225009","medgen:600","icd11.foundation:1719064637","ICD10:K90.2","ICD9:579.2"],"information_content":100.0}
{"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: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":"MONDO:0005688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"campylobacteriosis","equivalent_identifiers":["MONDO:0005688","DOID:13622","EFO:0007190","UMLS:C0006818","MESH:D002169","MEDDRA:10051226","MEDDRA:10053136","SNOMEDCT:86500004","medgen:14296","icd11.foundation:1012026026"],"information_content":95.4}
{"id":"MONDO:0005689","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cannabis abuse","equivalent_identifiers":["MONDO:0005689","DOID:1849","DOID:9505","EFO:0007191","UMLS:C0006868","UMLS:C0006870","UMLS:C0024809","MESH:D002189","MEDDRA:10007171","MEDDRA:10007176","MEDDRA:10007177","MEDDRA:10012341","MEDDRA:10012345","MEDDRA:10076891","NCIT:C34445","SNOMEDCT:37344009","SNOMEDCT:85005007","medgen:14303","icd11.foundation:1129015467","ICD10:F12","ICD10:F12.1","ICD10:F12.2","ICD9:304.3","ICD9:305.2","HP:5200341"],"information_content":92.8}
{"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:0005693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cauda equina syndrome","equivalent_identifiers":["MONDO:0005693","DOID:11577","EFO:0007196","UMLS:C0392548","MESH:D000077684","MEDDRA:10007821","MEDDRA:10057324","MEDDRA:10088488","NCIT:C35436","SNOMEDCT:192970008","medgen:98229","icd11.foundation:1490265028","ICD10:G83.4","ICD9:344.6"],"information_content":92.8}
{"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":"MONDO:0005700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chickenpox","equivalent_identifiers":["MONDO:0005700","DOID:8659","EFO:0007204","UMLS:C0008049","MESH:D002644","MEDDRA:10008505","MEDDRA:10046980","NCIT:C97132","SNOMEDCT:38907003","medgen:2995","ICD10:B01.9","ICD9:052"],"information_content":100.0}
{"id":"MONDO:0005701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chlamydia","equivalent_identifiers":["MONDO:0005701","DOID:11263","EFO:0007205","MESH:D002689","NCIT:C34463","SNOMEDCT:105629000"],"information_content":89.4}
{"id":"MONDO:0005705","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"clonorchiasis","equivalent_identifiers":["MONDO:0005705","DOID:13767","orphanet:658917","EFO:0007210","UMLS:C0009021","MESH:D003003","MEDDRA:10009344","MEDDRA:10009345","SNOMEDCT:11938002","medgen:3119","icd11.foundation:918986134","ICD10:B66.1","ICD9:121.1"],"information_content":100.0}
{"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":"MONDO:0005707","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coccidiosis","equivalent_identifiers":["MONDO:0005707","DOID:2113","EFO:0007212","UMLS:C0009187","MESH:D003048","MEDDRA:10009827","NCIT:C34493","SNOMEDCT:62005008","medgen:3138"],"information_content":85.5}
{"id":"MONDO:0005709","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"common cold","equivalent_identifiers":["MONDO:0005709","DOID:10459","EFO:0007214","UMLS:C0009443","MESH:D003139","MEDDRA:10000937","MEDDRA:10000938","MEDDRA:10009851","MEDDRA:10010106","MEDDRA:10010107","MEDDRA:10019192","MEDDRA:10021921","MEDDRA:10039084","MEDDRA:10059827","MEDDRA:10066743","NCIT:C34500","NCIT:C78599","SNOMEDCT:82272006","medgen:3179","ICD10:J00","ICD9:460"],"information_content":100.0}
{"id":"MONDO:0005710","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"composite lymphoma","equivalent_identifiers":["MONDO:0005710","DOID:5820","orphanet:168966","EFO:0007215","UMLS:C0545080","UMLS:C1266191","MESH:D058617","MEDDRA:10073957","NCIT:C38661","SNOMEDCT:1156403002","SNOMEDCT:128798004","medgen:107468"],"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":"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":"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":"MONDO:0005717","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"contagious pustular dermatitis","equivalent_identifiers":["MONDO:0005717","DOID:8771","EFO:0007222","UMLS:C0013570","MESH:D004474","MEDDRA:10006047","MEDDRA:10006048","MEDDRA:10010806","MEDDRA:10031071","MEDDRA:10053044","SNOMEDCT:74050005","medgen:41702","ICD10:B08.02","ICD9:051.2"],"information_content":100.0}
{"id":"MONDO:0005720","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cowpox","equivalent_identifiers":["MONDO:0005720","DOID:8956","EFO:0007225","UMLS:C0010232","MESH:D015605","MEDDRA:10011238","MEDDRA:10011242","SNOMEDCT:70090004","medgen:3261","icd11.foundation:1205745537","ICD10:B08.010","ICD9:051.01"],"information_content":100.0}
{"id":"MONDO:0005722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"croup","equivalent_identifiers":["MONDO:0005722","DOID:9395","EFO:0007227","UMLS:C0010380","MESH:D003440","MEDDRA:10011415","MEDDRA:10089352","NCIT:C26735","SNOMEDCT:71186008","medgen:3668","ICD10:J05.0","ICD9:464.4"],"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: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:0005725","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cyclosporiasis","equivalent_identifiers":["MONDO:0005725","DOID:12750","orphanet:210","EFO:0007230","UMLS:C0343398","UMLS:C4274225","MESH:D021866","MEDDRA:10066411","NCIT:C128409","SNOMEDCT:240372001","SNOMEDCT:716860005","medgen:91014","icd11.foundation:833744511","ICD10:A07.4","ICD9:007.5"],"information_content":100.0}
{"id":"MONDO:0005729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dicrocoeliasis","equivalent_identifiers":["MONDO:0005729","DOID:1219","EFO:0007234","UMLS:C0012102","UMLS:C1737210","MESH:D004011","MEDDRA:10080485","SNOMEDCT:105668007","SNOMEDCT:8410006","medgen:3813","icd11.foundation:1114361195","ICD10:B66.2"],"information_content":100.0}
{"id":"MONDO:0005736","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eastern equine encephalitis","equivalent_identifiers":["MONDO:0005736","DOID:10841","orphanet:83594","EFO:0007242","UMLS:C0153065","MESH:D020242","MEDDRA:10014060","MEDDRA:10014061","MEDDRA:10014587","SNOMEDCT:416925005","SNOMEDCT:417496004","medgen:102258","icd11.foundation:682536148","ICD10:A83.2","ICD9:062.2"],"information_content":100.0}
{"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:0005738","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"echinococcosis","equivalent_identifiers":["MONDO:0005738","DOID:1496","EFO:0007245","UMLS:C0013502","MESH:D004443","MEDDRA:10014096","MEDDRA:10014097","MEDDRA:10020480","MEDDRA:10043091","NCIT:C84682","SNOMEDCT:74942003","medgen:4438","icd11.foundation:1456802165","ICD10:B67","ICD9:122"],"information_content":89.4}
{"id":"MONDO:0005739","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"echinostomiasis","equivalent_identifiers":["MONDO:0005739","DOID:1218","EFO:0007246","UMLS:C0013514","UMLS:C5551001","MESH:D004451","SNOMEDCT:36607007","SNOMEDCT:52918004","medgen:3956","icd11.foundation:342249036","ICD10:B66.8"],"information_content":95.4}
{"id":"MONDO:0005743","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"encephalitozoonosis","equivalent_identifiers":["MONDO:0005743","DOID:4270","EFO:0007250","UMLS:C0085412","MESH:D016890","SNOMEDCT:12825006","medgen:39043"],"information_content":100.0}
{"id":"MONDO:0005744","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"yolk sac tumor","equivalent_identifiers":["MONDO:0005744","DOID:1911","orphanet:876","EFO:0007252","UMLS:C0014145","MESH:D018240","MEDDRA:10014718","MEDDRA:10048251","MEDDRA:10062419","NCIT:C3011","SNOMEDCT:404081005","SNOMEDCT:74409009","medgen:41782"],"information_content":75.3}
{"id":"MONDO:0005746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"enterobiasis","equivalent_identifiers":["MONDO:0005746","DOID:7457","EFO:0007254","UMLS:C0030100","UMLS:C0086227","MESH:D010123","MESH:D017229","MEDDRA:10014881","MEDDRA:10014882","MEDDRA:10014883","MEDDRA:10035070","MEDDRA:10043499","MEDDRA:10062569","NCIT:C128396","SNOMEDCT:266162007","SNOMEDCT:360419005","medgen:88540","icd11.foundation:580098307","ICD10:B80"],"information_content":100.0}
{"id":"MONDO:0005751","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidemic pleurodynia","equivalent_identifiers":["MONDO:0005751","DOID:10882","EFO:0007259","UMLS:C0032238","MESH:D011000","MEDDRA:10006035","MEDDRA:10014978","SNOMEDCT:83264000","medgen:19355","ICD10:B33.0","ICD9:074.1"],"information_content":100.0}
{"id":"MONDO:0005752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidural abscess","equivalent_identifiers":["MONDO:0005752","DOID:11387","EFO:0007260","UMLS:C0270629","MESH:D020802","MEDDRA:10015010","MEDDRA:10015768","MEDDRA:10061846","SNOMEDCT:61974008","medgen:82848"],"information_content":100.0}
{"id":"MONDO:0005753","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epiglottitis","equivalent_identifiers":["MONDO:0005753","DOID:9398","EFO:0007261","UMLS:C0014541","MESH:D004826","MEDDRA:10015030","MEDDRA:10015032","NCIT:C116007","SNOMEDCT:80384002","medgen:4505","ICD10:J05.1","ICD10:J05.10","ICD9:464.3"],"information_content":95.4}
{"id":"MONDO:0005756","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ethmoid sinusitis","equivalent_identifiers":["MONDO:0005756","DOID:9507","EFO:0007264","UMLS:C0015029","MESH:D015521","MEDDRA:10072034","MEDDRA:10072035","NCIT:C34597","SNOMEDCT:18643000","medgen:5046"],"information_content":92.8}
{"id":"MONDO:0005757","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Eumycetoma","equivalent_identifiers":["MONDO:0005757","DOID:13078","EFO:0007265","UMLS:C2350621","MEDDRA:10028426","SNOMEDCT:410038006","medgen:390045","ICD10:B47"],"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":"MONDO:0005767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gas gangrene","equivalent_identifiers":["MONDO:0005767","DOID:9159","EFO:0007279","UMLS:C0017105","MESH:D005738","MEDDRA:10017737","SNOMEDCT:80466000","medgen:8959","icd11.foundation:1920227791","ICD10:A48.0","ICD9:040.0"],"information_content":100.0}
{"id":"MONDO:0005770","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"genital herpes","equivalent_identifiers":["MONDO:0005770","DOID:8704","EFO:0007282","UMLS:C0019342","MESH:D006558","MEDDRA:10018150","MEDDRA:10018151","MEDDRA:10019937","MEDDRA:10019938","MEDDRA:10073931","NCIT:C14364","SNOMEDCT:33839006","medgen:42436","ICD10:A60","ICD9:054.1"],"information_content":92.8}
{"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:0005773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gerstmann syndrome","equivalent_identifiers":["MONDO:0005773","DOID:4969","orphanet:221117","EFO:0007285","UMLS:C0017494","MESH:D005862","MEDDRA:10048608","SNOMEDCT:36785009","medgen:42208","icd11.foundation:1121787098"],"information_content":100.0}
{"id":"MONDO:0005774","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glanders","equivalent_identifiers":["MONDO:0005774","DOID:13444","orphanet:659908","EFO:0007286","UMLS:C0017589","MESH:D005896","MEDDRA:10018298","NCIT:C34638","SNOMEDCT:4639008","medgen:42221","icd11.foundation:1563156715","ICD10:A24.0","ICD9:024"],"information_content":100.0}
{"id":"MONDO:0005775","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"G6PD deficiency","equivalent_identifiers":["MONDO:0005775","DOID:2862","EFO:0007287","UMLS:C0237987","UMLS:C2939465","MESH:D005955","MEDDRA:10002050","MEDDRA:10002288","MEDDRA:10017567","MEDDRA:10018444","MEDDRA:10019497","MEDDRA:10019498","MEDDRA:10055196","MEDDRA:10055728","MEDDRA:10055729","MEDDRA:10060358","MEDDRA:10075677","NCIT:C98933","SNOMEDCT:124134002","SNOMEDCT:62403005","medgen:473706"],"information_content":90.9}
{"id":"MONDO:0005776","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gnathomiasis","equivalent_identifiers":["MONDO:0005776","DOID:11379","EFO:0007289","UMLS:C0018013","MESH:D058429","MEDDRA:10018490","NCIT:C128395","SNOMEDCT:44086001","medgen:6651","ICD10:B83.1","ICD9:128.1"],"information_content":100.0}
{"id":"MONDO:0005779","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hand, foot and mouth disease","equivalent_identifiers":["MONDO:0005779","DOID:10881","EFO:0007294","UMLS:C0018572","MESH:D006232","MEDDRA:10019113","MEDDRA:10019124","MEDDRA:10085735","NCIT:C128439","SNOMEDCT:266108008","medgen:42330","ICD10:B08.4","ICD9:074.3"],"information_content":100.0}
{"id":"MONDO:0005783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemopericardium","equivalent_identifiers":["MONDO:0005783","DOID:11482","EFO:0007298","UMLS:C0019064","MEDDRA:10018934","MEDDRA:10019517","MEDDRA:10019554","MEDDRA:10019575","MEDDRA:10034476","MEDDRA:10034477","MEDDRA:10055817","MEDDRA:10055834","MEDDRA:10071860","NCIT:C111644","SNOMEDCT:23412002","medgen:6795","ICD9:423.0","HP:0011851"],"information_content":100.0}
{"id":"MONDO:0005784","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hantavirus hemorrhagic fever with renal syndrome","equivalent_identifiers":["MONDO:0005784","DOID:11266","NCIT:C84753","SNOMEDCT:102455002","ICD10:A98.5","ICD9:078.6"],"information_content":89.4}
{"id":"MONDO:0005788","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatitis E","equivalent_identifiers":["MONDO:0005788","DOID:4411","EFO:0007303","UMLS:C0085293","MESH:D016751","MEDDRA:10014865","MEDDRA:10014977","MEDDRA:10016300","MEDDRA:10019768","MEDDRA:10056116","SNOMEDCT:7111000119109","medgen:88376"],"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:0005790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatitis A","equivalent_identifiers":["MONDO:0005790","DOID:12549","EFO:0007305","UMLS:C0019159","MESH:D006506","MEDDRA:10019719","MEDDRA:10019780","MEDDRA:10019782","MEDDRA:10021913","MEDDRA:10047447","NCIT:C3096","SNOMEDCT:40468003","medgen:42418"],"information_content":100.0}
{"id":"MONDO:0005791","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"herpangina","equivalent_identifiers":["MONDO:0005791","DOID:10883","EFO:0007306","UMLS:C0019338","MESH:D006557","MEDDRA:10019936","MEDDRA:10067780","SNOMEDCT:186659004","SNOMEDCT:274102007","medgen:42435","ICD10:B08.5","ICD9:074.0"],"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":"MONDO:0005806","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypopharynx cancer","equivalent_identifiers":["MONDO:0005806","DOID:8533","EFO:0007321","UMLS:C0153398","UMLS:C0496770","MESH:D007012","MEDDRA:10021042","MEDDRA:10025963","MEDDRA:10025970","MEDDRA:10026363","NCIT:C194061","NCIT:C7190","SNOMEDCT:303012000","SNOMEDCT:363399006","medgen:102266","ICD10:C13","ICD10:C13.2","ICD9:148","ICD9:148.3"],"information_content":73.7}
{"id":"MONDO:0005808","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inclusion conjunctivitis","equivalent_identifiers":["MONDO:0005808","DOID:13800","EFO:0007324","UMLS:C0009770","UMLS:C0343723","UMLS:C0392644","MESH:D003235","MEDDRA:10008535","MEDDRA:10010745","MEDDRA:10021629","MEDDRA:10053609","MEDDRA:10053992","MEDDRA:10053993","MEDDRA:10062847","NCIT:C116817","SNOMEDCT:231861005","SNOMEDCT:240591000","SNOMEDCT:56009001","medgen:1095","ICD10:A74.0","ICD9:077.0"],"information_content":100.0}
{"id":"MONDO:0005812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"influenza","equivalent_identifiers":["MONDO:0005812","DOID:8469","EFO:0007328","UMLS:C0021400","UMLS:C0029342","UMLS:C0155871","MESH:D007251","MESH:D009976","MEDDRA:10016790","MEDDRA:10016793","MEDDRA:10022000","MEDDRA:10042807","NCIT:C53482","SNOMEDCT:6142004","SNOMEDCT:61700007","SNOMEDCT:65093003","medgen:9466","icd11.foundation:145723401","ICD10:J11.1","ICD9:487"],"information_content":90.9}
{"id":"MONDO:0005813","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"interdigitating dendritic cell sarcoma","equivalent_identifiers":["MONDO:0005813","DOID:7848","EFO:0007329","UMLS:C1260326","MESH:D054739","NCIT:C9282","SNOMEDCT:128815007","SNOMEDCT:715664005","medgen:266040","icd11.foundation:2024362257","icd11.foundation:214592620"],"information_content":100.0}
{"id":"MONDO:0005817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kluver-Bucy syndrome","equivalent_identifiers":["MONDO:0005817","DOID:2510","orphanet:157823","EFO:0007335","UMLS:C0270707","UMLS:C1741120","MESH:D020232","MEDDRA:10066431","NCIT:C84802","SNOMEDCT:10651001","medgen:124361"],"information_content":100.0}
{"id":"MONDO:0005819","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"laryngeal tuberculosis","equivalent_identifiers":["MONDO:0005819","DOID:1583","EFO:0007337","UMLS:C0041315","MESH:D014387","MEDDRA:10045072","NCIT:C26895","SNOMEDCT:70341005","medgen:11945","ICD10:A15.5","ICD9:012.3"],"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:0005821","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"late congenital syphilis","equivalent_identifiers":["MONDO:0005821","DOID:10039","EFO:0007339","UMLS:C0153132","UMLS:C0153136","UMLS:C0554634","UMLS:C5848063","MEDDRA:10023257","MEDDRA:10023258","MEDDRA:10032961","SNOMEDCT:266126006","SNOMEDCT:82323002","medgen:640497","icd11.foundation:1685932952","ICD10:A50.40","ICD10:A50.5","ICD9:090.4","ICD9:090.5"],"information_content":100.0}
{"id":"MONDO:0005822","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"latent syphilis","equivalent_identifiers":["MONDO:0005822","DOID:9531","EFO:0007340","UMLS:C0039133","MESH:D013592","MEDDRA:10024026","MEDDRA:10070738","NCIT:C35056","SNOMEDCT:444150000","medgen:21056","ICD10:A53.0","ICD9:097.1"],"information_content":92.8}
{"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:0005824","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Legionnaires' disease","equivalent_identifiers":["MONDO:0005824","DOID:10457","EFO:0007343","UMLS:C0023241","MESH:D007877","MEDDRA:10024181","MEDDRA:10024182","MEDDRA:10035718","MEDDRA:10054143","NCIT:C128339","SNOMEDCT:195889001","SNOMEDCT:269574000","medgen:9705","ICD10:A48.1","ICD9:482.84"],"information_content":95.4}
{"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":"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":"MONDO:0005829","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"louping ill","equivalent_identifiers":["MONDO:0005829","DOID:10250","EFO:0007348","UMLS:C0024025","MESH:D008146","MEDDRA:10024887","ICD10:A84.89","ICD9:063.1"],"information_content":100.0}
{"id":"MONDO:0005832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphangitis","equivalent_identifiers":["MONDO:0005832","DOID:9317","EFO:0007351","UMLS:C0024225","MESH:D008205","MEDDRA:10025226","NCIT:C34790","SNOMEDCT:1415005","medgen:7412","icd11.foundation:1548743622","ICD10:I89.1","ICD9:457.2"],"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:0005834","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymphogranuloma venereum","equivalent_identifiers":["MONDO:0005834","DOID:13819","EFO:0007353","UMLS:C0024286","MESH:D008219","MEDDRA:10008547","MEDDRA:10025297","MEDDRA:10049604","NCIT:C26822","SNOMEDCT:186946009","medgen:44221","ICD10:A55","ICD9:099.1"],"information_content":100.0}
{"id":"MONDO:0005841","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"maxillary neoplasm","equivalent_identifiers":["MONDO:0005841","DOID:4618","EFO:0007360","UMLS:C0024954","MESH:D008441","MEDDRA:10056318","SNOMEDCT:126550004","medgen:44312"],"information_content":85.5}
{"id":"MONDO:0005843","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mediastinal cancer","equivalent_identifiers":["MONDO:0005843","DOID:5559","EFO:0007362","UMLS:C0153504","MESH:D008479","MEDDRA:10025649","MEDDRA:10026137","MEDDRA:10027081","MEDDRA:10061241","NCIT:C3549","SNOMEDCT:363494000","medgen:56308","ICD10:C38.3","ICD9:164.9"],"information_content":73.4}
{"id":"MONDO:0005845","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"meningoencephalitis","equivalent_identifiers":["MONDO:0005845","DOID:10554","EFO:0007364","UMLS:C0025309","MESH:D008590","MEDDRA:10027282","NCIT:C34813","SNOMEDCT:7125002","medgen:6301","ICD10:A69.22"],"information_content":95.4}
{"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":"MONDO:0005850","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"milker's nodule","equivalent_identifiers":["MONDO:0005850","DOID:8729","EFO:0007370","UMLS:C0026143","UMLS:C0032870","MESH:D011213","MEDDRA:10033976","MEDDRA:10033978","MEDDRA:10037115","MEDDRA:10053045","SNOMEDCT:105630005","SNOMEDCT:27240009","medgen:44449","ICD10:B08.04","ICD9:051.9"],"information_content":100.0}
{"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:0005853","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant mixed neoplasm","equivalent_identifiers":["MONDO:0005853","DOID:154","EFO:1000356","UMLS:C0206625","UMLS:C0344459","MESH:D018198","NCIT:C3729","NCIT:C8025","SNOMEDCT:425225007","SNOMEDCT:8145008","medgen:64618"],"information_content":62.9}
{"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":"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":"MONDO:0005858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucinous cystadenocarcinoma","equivalent_identifiers":["MONDO:0005858","DOID:3603","EFO:0007378","UMLS:C0206699","MESH:D018282","NCIT:C3776","SNOMEDCT:79143006","medgen:60211"],"information_content":87.2}
{"id":"MONDO:0005864","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"muscle cancer","equivalent_identifiers":["MONDO:0005864","DOID:4045","EFO:0007384","UMLS:C0027095","UMLS:C0684743","MESH:D009217","MEDDRA:10050530","MEDDRA:10062050","NCIT:C4883","SNOMEDCT:20667008","SNOMEDCT:363495004","medgen:151927"],"information_content":63.8}
{"id":"MONDO:0005866","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mycobacterium avium complex disease","equivalent_identifiers":["MONDO:0005866","DOID:2755","EFO:0007386","UMLS:C0026916","MESH:D015270","MEDDRA:10021840","MEDDRA:10058806","MEDDRA:10058807","NCIT:C36197","SNOMEDCT:373436002","medgen:6478"],"information_content":100.0}
{"id":"MONDO:0005867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Mycoplasma pneumoniae pneumonia","equivalent_identifiers":["MONDO:0005867","DOID:13276","EFO:0007387","UMLS:C0032302","MESH:D011019","MEDDRA:10028472","MEDDRA:10028478","MEDDRA:10035683","MEDDRA:10035724","MEDDRA:10035730","MEDDRA:10036679","NCIT:C122526","SNOMEDCT:46970008","medgen:19363","ICD10:J15.7","ICD9:483.0"],"information_content":100.0}
{"id":"MONDO:0005870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"necatoriasis","equivalent_identifiers":["MONDO:0005870","DOID:2790","EFO:0007390","UMLS:C0027528","MESH:D009332","NCIT:C34838","SNOMEDCT:36667009","medgen:10277","icd11.foundation:652000933","ICD10:B76.1"],"information_content":100.0}
{"id":"MONDO:0005872","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nervous system cancer","equivalent_identifiers":["MONDO:0005872","DOID:3093","EFO:0007392","UMLS:C0027665","UMLS:C0153643","UMLS:C0497549","UMLS:C1334956","MESH:D009380","MESH:D009423","MEDDRA:10026175","MEDDRA:10026656","MEDDRA:10061268","NCIT:C35562","NCIT:C4788","SNOMEDCT:372063002","medgen:99231","ICD9:192.9","HP:0030060"],"information_content":55.0}
{"id":"MONDO:0005875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Newcastle disease","equivalent_identifiers":["MONDO:0005875","DOID:2929","EFO:0007395","UMLS:C0027983","MESH:D009521","MEDDRA:10029393","NCIT:C34849","medgen:10339"],"information_content":100.0}
{"id":"MONDO:0005880","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oesophagostomiasis","equivalent_identifiers":["MONDO:0005880","DOID:3983","EFO:0007400","UMLS:C0028887","MESH:D009814","SNOMEDCT:22500005","medgen:18151","icd11.foundation:1664841973"],"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:0005884","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"opisthorchiasis","equivalent_identifiers":["MONDO:0005884","DOID:13768","EFO:0007404","UMLS:C0029106","MESH:D009889","MEDDRA:10030897","SNOMEDCT:1059007","medgen:10453","icd11.foundation:1401769984","ICD10:B66.0","ICD9:121.0"],"information_content":100.0}
{"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":"MONDO:0005888","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ornithosis","equivalent_identifiers":["MONDO:0005888","DOID:11262","orphanet:660053","EFO:0007410","UMLS:C0029291","MESH:D009956","MEDDRA:10031088","MEDDRA:10031092","MEDDRA:10037151","NCIT:C34873","SNOMEDCT:75116005","medgen:18198","ICD10:A70","ICD9:073"],"information_content":100.0}
{"id":"MONDO:0005890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brown tumor","equivalent_identifiers":["MONDO:0005890","DOID:3341","EFO:0007413","UMLS:C0029405","MESH:D010002","MEDDRA:10047713","MEDDRA:10064651","MEDDRA:10070487","MEDDRA:10070489","NCIT:C34875","SNOMEDCT:84727000","medgen:14529","HP:6000089"],"information_content":100.0}
{"id":"MONDO:0005894","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paracoccidioidomycosis","equivalent_identifiers":["MONDO:0005894","DOID:12662","orphanet:73260","EFO:0007417","UMLS:C0030409","MESH:D010229","MEDDRA:10033766","MEDDRA:10033767","MEDDRA:10033768","MEDDRA:10061906","NCIT:C34891","SNOMEDCT:36866003","SNOMEDCT:59925007","medgen:14601","icd11.foundation:268777657","ICD10:B41","ICD9:116.1"],"information_content":100.0}
{"id":"MONDO:0005895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paragonimiasis","equivalent_identifiers":["MONDO:0005895","DOID:10699","orphanet:658913","EFO:0007418","UMLS:C0030424","UMLS:C1331542","MESH:D010237","MEDDRA:10014652","MEDDRA:10025090","MEDDRA:10033794","MEDDRA:10033795","MEDDRA:10055573","NCIT:C84995","SNOMEDCT:30369007","medgen:14603","icd11.foundation:1422824299","ICD10:B66.4","ICD9:121.2"],"information_content":100.0}
{"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: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":"MONDO:0005901","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pasteurellosis","equivalent_identifiers":["MONDO:0005901","DOID:11055","EFO:0007424","UMLS:C0030636","MESH:D010326","MEDDRA:10034106","MEDDRA:10034107","MEDDRA:10034113","SNOMEDCT:83172007","medgen:10598","icd11.foundation:304649065","ICD10:A28.0","ICD9:027.2"],"information_content":92.8}
{"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:0005905","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periodic limb movement disorder","equivalent_identifiers":["MONDO:0005905","DOID:9207","EFO:0007428","UMLS:C0751774","MESH:D020189","MEDDRA:10064500","MEDDRA:10064600","SNOMEDCT:418763003","medgen:199731","icd11.foundation:1846518306","ICD10:G47.61","ICD9:327.51","HP:5200300"],"information_content":85.5}
{"id":"MONDO:0005907","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"persian gulf syndrome","equivalent_identifiers":["MONDO:0005907","DOID:4491","EFO:0007430","UMLS:C0282550","MESH:D018923","MEDDRA:10056557","SNOMEDCT:95877004","medgen:84396"],"information_content":100.0}
{"id":"MONDO:0005910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phagocyte bactericidal dysfunction","equivalent_identifiers":["MONDO:0005910","DOID:3262","EFO:0007433","UMLS:C0031306","MESH:D010585","medgen:14713"],"information_content":85.5}
{"id":"MONDO:0005911","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pharyngoconjunctival fever","equivalent_identifiers":["MONDO:0005911","DOID:13801","EFO:0007434","UMLS:C0001487","UMLS:C0031351","MESH:D000258","MEDDRA:10034842","NCIT:C34924","SNOMEDCT:70385007","medgen:14722","ICD9:077.2"],"information_content":100.0}
{"id":"MONDO:0005912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phencyclidine abuse","equivalent_identifiers":["MONDO:0005912","DOID:5062","EFO:0007436","UMLS:C0031391","MESH:D010623","SNOMEDCT:7071007","medgen:19234"],"information_content":100.0}
{"id":"MONDO:0005913","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"phlebotomus fever","equivalent_identifiers":["MONDO:0005913","DOID:11360","EFO:0007437","UMLS:C0030372","MESH:D010217","MEDDRA:10034905","MEDDRA:10080469","SNOMEDCT:407476002","medgen:14597","ICD10:A93.1","ICD9:066.0"],"information_content":100.0}
{"id":"MONDO:0005915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pityriasis versicolor","equivalent_identifiers":["MONDO:0005915","DOID:9060","EFO:0007439","UMLS:C0040262","MESH:D014010","MEDDRA:10035117","MEDDRA:10043875","MEDDRA:10056131","MEDDRA:10056227","NCIT:C112833","NCIT:C82981","SNOMEDCT:56454009","medgen:11826","icd11.foundation:67108853","ICD10:B36.0","ICD9:111.0"],"information_content":100.0}
{"id":"MONDO:0005916","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"placenta accreta","equivalent_identifiers":["MONDO:0005916","DOID:4744","orphanet:662721","EFO:0007440","UMLS:C0032044","MESH:D010921","MEDDRA:10062936","NCIT:C26856","SNOMEDCT:70129008","medgen:10780","icd11.foundation:298160226","ICD10:O43.21","HP:0025654"],"information_content":100.0}
{"id":"MONDO:0005917","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"placenta disorder","equivalent_identifiers":["MONDO:0005917","DOID:780","EFO:0007441","UMLS:C0032045","UMLS:C1335423","MESH:D010922","MEDDRA:10013257","MEDDRA:10035132","MEDDRA:10035133","NCIT:C26857","NCIT:C27619","SNOMEDCT:125586008","medgen:10781","ICD10:O43","ICD9:646.9"],"information_content":77.3}
{"id":"MONDO:0005918","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Placenta Previa","equivalent_identifiers":["MONDO:0005918","DOID:11060","EFO:0007442","UMLS:C0032046","MESH:D010923","MEDDRA:10035119","MEDDRA:10074685","NCIT:C26858","SNOMEDCT:36813001","medgen:10782","ICD10:O44","HP:0430070"],"information_content":95.4}
{"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:0005921","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Malaria, Vivax","equivalent_identifiers":["MONDO:0005921","DOID:12978","EFO:0007445","UMLS:C0024537","MESH:D016780","MEDDRA:10043288","MEDDRA:10047664","MEDDRA:10047665","NCIT:C34800","SNOMEDCT:27052006","medgen:6186","ICD10:B51","ICD9:084.1"],"information_content":100.0}
{"id":"MONDO:0005928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"post-thrombotic syndrome","equivalent_identifiers":["MONDO:0005928","DOID:2364","EFO:0007452","UMLS:C0032807","UMLS:C1456464","MESH:D011186","MEDDRA:10036425","MEDDRA:10048589","SNOMEDCT:20427003","SNOMEDCT:410013001","medgen:46043","ICD10:I87.0","ICD9:459.1"],"information_content":100.0}
{"id":"MONDO:0005929","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Maternity blues","equivalent_identifiers":["MONDO:0005929","DOID:9478","EFO:0007453","UMLS:C0221074","UMLS:C3251820","MESH:D019052","MEDDRA:10003968","MEDDRA:10012394","MEDDRA:10036235","MEDDRA:10036271","MEDDRA:10037289","MEDDRA:10056393","NCIT:C92852","SNOMEDCT:279225001","SNOMEDCT:58703003","medgen:66359","ICD10:F53.0"],"information_content":100.0}
{"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:0005937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"REM sleep behavior disorder","equivalent_identifiers":["MONDO:0005937","DOID:9091","EFO:0007462","UMLS:C0751772","MESH:D020187","MEDDRA:10077299","MEDDRA:10077300","MEDDRA:10078722","MEDDRA:10078725","SNOMEDCT:415238003","medgen:199730","ICD10:G47.52","ICD9:327.42","HP:5200291"],"information_content":95.4}
{"id":"MONDO:0005941","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retroperitoneal cancer","equivalent_identifiers":["MONDO:0005941","DOID:5875","EFO:0007466","UMLS:C0153464","UMLS:C0153465","MESH:D012186","MEDDRA:10026441","MEDDRA:10038977","NCIT:C3537","SNOMEDCT:126872008","SNOMEDCT:187801002","SNOMEDCT:363420003","medgen:57559","ICD10:C48","ICD10:C48.0","ICD9:158","ICD9:158.0"],"information_content":71.2}
{"id":"MONDO:0005942","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Reye syndrome","equivalent_identifiers":["MONDO:0005942","DOID:14525","orphanet:3096","EFO:0007467","UMLS:C0035400","MESH:D012202","MEDDRA:10039012","NCIT:C34983","SNOMEDCT:74351001","medgen:19772","icd11.foundation:649014905","ICD10:G93.7","ICD9:331.81"],"information_content":100.0}
{"id":"MONDO:0005945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhinoscleroma","equivalent_identifiers":["MONDO:0005945","DOID:11336","EFO:0007470","UMLS:C0035468","MESH:D012226","MEDDRA:10039102","MEDDRA:10063391","SNOMEDCT:72409005","medgen:20569","icd11.foundation:1053615368","ICD9:040.1"],"information_content":100.0}
{"id":"MONDO:0005946","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhinosporidiosis","equivalent_identifiers":["MONDO:0005946","DOID:2409","EFO:0007471","UMLS:C0035469","MESH:D012227","MEDDRA:10039104","SNOMEDCT:18140003","medgen:48452","icd11.foundation:1150206155","ICD10:B48.1","ICD9:117.0"],"information_content":100.0}
{"id":"MONDO:0005952","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scarlet fever","equivalent_identifiers":["MONDO:0005952","DOID:8596","orphanet:688995","EFO:0007477","UMLS:C0036285","UMLS:C0343487","MESH:D012541","MEDDRA:10039586","MEDDRA:10039587","MEDDRA:10039588","NCIT:C94575","SNOMEDCT:186357007","SNOMEDCT:30242009","medgen:11327","icd11.foundation:107294155","ICD10:A38","ICD9:034","ICD9:034.1"],"information_content":100.0}
{"id":"MONDO:0005960","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"silicosis","equivalent_identifiers":["MONDO:0005960","DOID:10325","EFO:0007485","UMLS:C0037116","MESH:D012829","MEDDRA:10040678","NCIT:C3369","SNOMEDCT:805002","medgen:20758","ICD10:J62.8","ICD9:502"],"information_content":92.8}
{"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":"MONDO:0005962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skeletal tuberculosis","equivalent_identifiers":["MONDO:0005962","DOID:1639","EFO:0007487","UMLS:C0041324","MESH:D014394","SNOMEDCT:17653001","medgen:21727","ICD10:A18.0","ICD9:015.9"],"information_content":95.4}
{"id":"MONDO:0005963","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sparganosis","equivalent_identifiers":["MONDO:0005963","DOID:10080","EFO:0007488","UMLS:C0037753","MESH:D013031","MEDDRA:10041375","NCIT:C35030","SNOMEDCT:31659000","medgen:52426","icd11.foundation:22873958","ICD10:B70.1","ICD9:123.5"],"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":"MONDO:0005966","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spleen cancer","equivalent_identifiers":["MONDO:0005966","DOID:672","EFO:0007491","UMLS:C0153470","MESH:D013160","MEDDRA:10026702","MEDDRA:10088492","NCIT:C3539","SNOMEDCT:127230005","SNOMEDCT:363499005","medgen:102271","ICD10:C26.1"],"information_content":77.1}
{"id":"MONDO:0005968","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sporotrichosis","equivalent_identifiers":["MONDO:0005968","DOID:14484","orphanet:826","EFO:0007494","UMLS:C0038034","MESH:D013174","MEDDRA:10041736","MEDDRA:10041737","MEDDRA:10089707","SNOMEDCT:42094007","medgen:21298","icd11.foundation:579570784","ICD10:B42","ICD9:117.1"],"information_content":95.4}
{"id":"MONDO:0005969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"st. Louis encephalitis","equivalent_identifiers":["MONDO:0005969","DOID:10845","orphanet:83484","EFO:0007495","UMLS:C0014060","MESH:D004674","MEDDRA:10041896","MEDDRA:10041898","SNOMEDCT:417192005","SNOMEDCT:417607009","medgen:41773","icd11.foundation:1306878274","ICD10:A83.3","ICD9:062.3"],"information_content":100.0}
{"id":"MONDO:0005971","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"staphyloenterotoxemia","equivalent_identifiers":["MONDO:0005971","DOID:96","EFO:0007497","UMLS:C0038159","MESH:D013202","MEDDRA:10041921","NCIT:C35037","SNOMEDCT:84622004","medgen:52482","ICD10:A05.0","ICD9:005.0"],"information_content":100.0}
{"id":"MONDO:0005975","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"suppurative otitis media","equivalent_identifiers":["MONDO:0005975","DOID:11506","EFO:0007503","UMLS:C0029888","MESH:D010035","MEDDRA:10033092","MEDDRA:10033097","MEDDRA:10046177","SNOMEDCT:39288006","medgen:10506","icd11.foundation:1528565412","ICD10:H66.4","ICD9:382.4"],"information_content":89.4}
{"id":"MONDO:0005976","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"syphilis","equivalent_identifiers":["MONDO:0005976","DOID:4166","EFO:0007504","UMLS:C0039128","MESH:D013587","MEDDRA:10042882","MEDDRA:10042896","MEDDRA:10044588","MEDDRA:10062120","MEDDRA:10063034","NCIT:C35055","SNOMEDCT:76272004","medgen:21447","icd11.foundation:455894495","ICD10:A51.0"],"information_content":78.5}
{"id":"MONDO:0005978","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"theileriasis","equivalent_identifiers":["MONDO:0005978","DOID:3733","EFO:0007506","UMLS:C0039753","MESH:D013801","SNOMEDCT:68771000","medgen:11763"],"information_content":100.0}
{"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:0005980","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tick infestation","equivalent_identifiers":["MONDO:0005980","DOID:4109","EFO:0007508","UMLS:C0040196","MESH:D013984","medgen:21178"],"information_content":95.4}
{"id":"MONDO:0005983","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tinea favosa","equivalent_identifiers":["MONDO:0005983","DOID:4336","EFO:0007511","UMLS:C0040254","MESH:D014007","MEDDRA:10016269","NCIT:C35072","SNOMEDCT:85375000","medgen:52758","ICD10:B35"],"information_content":100.0}
{"id":"MONDO:0005984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tinea pedis","equivalent_identifiers":["MONDO:0005984","DOID:12403","EFO:0007512","UMLS:C0040259","MESH:D014008","MEDDRA:10003621","MEDDRA:10012507","MEDDRA:10016978","MEDDRA:10039186","MEDDRA:10043873","MEDDRA:10084360","SNOMEDCT:6020002","medgen:52759","ICD10:B35.3","ICD9:110.4"],"information_content":100.0}
{"id":"MONDO:0005987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toxascariasis","equivalent_identifiers":["MONDO:0005987","DOID:3107","EFO:0007515","UMLS:C0040522","MESH:D017227","medgen:21221"],"information_content":100.0}
{"id":"MONDO:0005989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"toxoplasmosis","equivalent_identifiers":["MONDO:0005989","DOID:9965","EFO:0007517","UMLS:C0040558","MESH:D014123","MEDDRA:10044272","MEDDRA:10044273","MEDDRA:10044275","MEDDRA:10054155","NCIT:C3418","SNOMEDCT:187192000","medgen:21597","icd11.foundation:738999268","ICD10:B58","ICD9:130"],"information_content":89.4}
{"id":"MONDO:0005990","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tracheitis","equivalent_identifiers":["MONDO:0005990","DOID:9392","EFO:0007518","UMLS:C0040584","UMLS:C0149513","MESH:D014136","MEDDRA:10001095","MEDDRA:10044302","MEDDRA:10044303","MEDDRA:10065899","NCIT:C78643","SNOMEDCT:26650005","SNOMEDCT:62994001","medgen:11870","ICD10:J04.1","ICD9:464.1"],"information_content":92.8}
{"id":"MONDO:0005991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trench fever","equivalent_identifiers":["MONDO:0005991","DOID:11101","orphanet:64694","EFO:0007519","UMLS:C0040830","MESH:D014205","MEDDRA:10039206","MEDDRA:10044582","MEDDRA:10090568","SNOMEDCT:82214002","medgen:21637","icd11.foundation:1587737629","ICD10:A79.0","ICD9:083.1"],"information_content":100.0}
{"id":"MONDO:0005995","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trichostrongylosis","equivalent_identifiers":["MONDO:0005995","DOID:1254","EFO:0007523","UMLS:C0040948","MESH:D014253","MEDDRA:10044627","SNOMEDCT:33710003","medgen:11908","ICD10:B81.2","ICD9:127.6"],"information_content":100.0}
{"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:0005998","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trombiculiasis","equivalent_identifiers":["MONDO:0005998","DOID:8399","EFO:0007526","UMLS:C0041170","MESH:D014323","medgen:11928"],"information_content":100.0}
{"id":"MONDO:0006005","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Venezuelan equine encephalitis","equivalent_identifiers":["MONDO:0006005","DOID:9584","EFO:0007534","UMLS:C0014078","UMLS:C1561973","MESH:D004685","MEDDRA:10014611","MEDDRA:10047204","MEDDRA:10047205","MEDDRA:10047206","NCIT:C35121","SNOMEDCT:417067005","SNOMEDCT:417702007","medgen:4036","icd11.foundation:608978790","ICD10:A92.2","ICD9:066.2"],"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":"MONDO:0006008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vestibular neuronitis","equivalent_identifiers":["MONDO:0006008","DOID:12683","EFO:0007537","UMLS:C0153113","UMLS:C0751908","MESH:D020338","MEDDRA:10014980","MEDDRA:10047393","MEDDRA:10085178","SNOMEDCT:186738001","medgen:155655","ICD10:H81.2","ICD9:386.12"],"information_content":100.0}
{"id":"MONDO:0006014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulvovaginal candidiasis","equivalent_identifiers":["MONDO:0006014","DOID:2272","EFO:0007543","UMLS:C0700345","MESH:D002181","MEDDRA:10047783","MEDDRA:10047784","NCIT:C2914","SNOMEDCT:72605008","medgen:195979","ICD10:B37.3","ICD9:112.1"],"information_content":92.8}
{"id":"MONDO:0006015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waterhouse-Friderichsen syndrome","equivalent_identifiers":["MONDO:0006015","DOID:9931","orphanet:100067","EFO:0007544","UMLS:C0043068","UMLS:C1403891","MESH:D014884","MEDDRA:10017371","MEDDRA:10047846","MEDDRA:10047847","NCIT:C85225","SNOMEDCT:36102002","medgen:234675","icd11.foundation:2072098125"],"information_content":100.0}
{"id":"MONDO:0006018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wissler syndrome","equivalent_identifiers":["MONDO:0006018","DOID:3047","EFO:0007547","UMLS:C0043195","MESH:D014924","MEDDRA:10058492","MEDDRA:10058493","medgen:53087"],"information_content":100.0}
{"id":"MONDO:0006019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"yaws","equivalent_identifiers":["MONDO:0006019","DOID:10371","EFO:0007548","UMLS:C0043388","MESH:D015001","MEDDRA:10048234","MEDDRA:10048237","NCIT:C41353","SNOMEDCT:70647001","medgen:12186","icd11.foundation:840525023","ICD10:A66","ICD9:102"],"information_content":89.4}
{"id":"MONDO:0006026","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bladder disease","equivalent_identifiers":["MONDO:0006026","DOID:365","EFO:1000018","UMLS:C0005686","MESH:D001745","MEDDRA:10005035","MEDDRA:10045774","MEDDRA:10061011","NCIT:C2900","SNOMEDCT:42643001","medgen:2278","ICD10:N32.9","ICD9:596.9"],"information_content":63.6}
{"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:0006036","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granulosa cell tumor","equivalent_identifiers":["MONDO:0006036","DOID:2999","EFO:1000032","UMLS:C0018206","UMLS:C0334401","MESH:D006106","NCIT:C3070","NCIT:C4205","SNOMEDCT:18861007","medgen:6676"],"information_content":82.6}
{"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":"MONDO:0006045","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian clear cell adenocarcinoma","equivalent_identifiers":["MONDO:0006045","DOID:5304","orphanet:398971","EFO:1000042","UMLS:C1518693","UMLS:CN205034","NCIT:C40078","SNOMEDCT:763131005","medgen:276659","icd11.foundation:315825558"],"information_content":88.2}
{"id":"MONDO:0006046","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian serous cystadenocarcinoma","equivalent_identifiers":["MONDO:0006046","DOID:5746","EFO:1000043","UMLS:C0279663","MEDDRA:10054913","NCIT:C7978","medgen:83541"],"information_content":89.4}
{"id":"MONDO:0006059","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasal cavity squamous cell carcinoma","equivalent_identifiers":["MONDO:0006059","DOID:5515","EFO:1000057","UMLS:C0280333","MEDDRA:10041856","NCIT:C8192","medgen:79104"],"information_content":89.4}
{"id":"MONDO:0006071","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenofibroma","equivalent_identifiers":["MONDO:0006071","DOID:2683","EFO:1000070","UMLS:C0001422","UMLS:C4520837","MESH:D000232","MEDDRA:10072991","NCIT:C8984","SNOMEDCT:1157241000","medgen:1325"],"information_content":77.1}
{"id":"MONDO:0006076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adrenal gland neuroblastoma","equivalent_identifiers":["MONDO:0006076","DOID:5718","EFO:1000075","UMLS:C0559460","NCIT:C4827","SNOMEDCT:281562007","medgen:154328"],"information_content":95.4}
{"id":"MONDO:0006082","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anal squamous cell carcinoma","equivalent_identifiers":["MONDO:0006082","DOID:5525","EFO:1000081","UMLS:C1412036","MEDDRA:10073358","NCIT:C9161","medgen:237257"],"information_content":81.7}
{"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:0006097","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Atypical Lipoma","equivalent_identifiers":["MONDO:0006097","DOID:5690","EFO:1000099","UMLS:C1266129","UMLS:C5848072","NCIT:C176979","NCIT:C6505","SNOMEDCT:116063003","SNOMEDCT:1290639002","SNOMEDCT:1293066000","medgen:266102"],"information_content":84.8}
{"id":"MONDO:0006108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bile duct adenoma","equivalent_identifiers":["MONDO:0006108","DOID:5381","EFO:1000123","UMLS:C0008309","MESH:D002759","MEDDRA:10008592","NCIT:C2942","SNOMEDCT:39471001","SNOMEDCT:424091006","medgen:918"],"information_content":86.3}
{"id":"MONDO:0006118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast fibrosis","equivalent_identifiers":["MONDO:0006118","DOID:10353","EFO:1000145","UMLS:C0156318","MEDDRA:10006253","MEDDRA:10016639","MEDDRA:10016644","NCIT:C3660","SNOMEDCT:29070004","medgen:57627","ICD10:N60.3","ICD9:610.3"],"information_content":100.0}
{"id":"MONDO:0006143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cervical squamous cell carcinoma","equivalent_identifiers":["MONDO:0006143","DOID:3744","orphanet:213767","EFO:1000172","UMLS:C0279671","MEDDRA:10041848","NCIT:C4028","SNOMEDCT:254886006","medgen:124644","icd11.foundation:1544785014"],"information_content":79.9}
{"id":"MONDO:0006145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondroid chordoma","equivalent_identifiers":["MONDO:0006145","DOID:4152","EFO:1000174","UMLS:C1266173","NCIT:C6902","SNOMEDCT:128784007","medgen:224768"],"information_content":92.8}
{"id":"MONDO:0006173","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"conjunctival squamous cell carcinoma","equivalent_identifiers":["MONDO:0006173","DOID:1748","EFO:1000206","UMLS:C0346359","MEDDRA:10079644","NCIT:C4549","SNOMEDCT:255003007","medgen:87558"],"information_content":92.8}
{"id":"MONDO:0006180","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"digestive system adenoma","equivalent_identifiers":["MONDO:0006180","DOID:4147","EFO:1000217","UMLS:C0948101","MEDDRA:10051635","NCIT:C36207","medgen:184920"],"information_content":68.6}
{"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:0006187","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"duodenal villous adenoma","equivalent_identifiers":["MONDO:0006187","DOID:0050927","EFO:1000225","UMLS:C1333322","NCIT:C5338","SNOMEDCT:15641141000119100","medgen:232438"],"information_content":100.0}
{"id":"MONDO:0006189","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Porocarcinoma","equivalent_identifiers":["MONDO:0006189","DOID:7566","EFO:1000229","UMLS:C1266065","MESH:D057090","MEDDRA:10063609","NCIT:C5560","SNOMEDCT:128685001","SNOMEDCT:254708001","medgen:266098"],"information_content":88.2}
{"id":"MONDO:0006196","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometrial serous adenocarcinoma","equivalent_identifiers":["MONDO:0006196","DOID:5750","EFO:1000238","UMLS:C0854924","MEDDRA:10033700","NCIT:C27838","medgen:1659908","icd11.foundation:225222541"],"information_content":88.2}
{"id":"MONDO:0006210","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fibrolamellar hepatocellular carcinoma","equivalent_identifiers":["MONDO:0006210","DOID:5015","orphanet:401920","EFO:1000256","UMLS:C0334287","MESH:C537258","NCIT:C4131","SNOMEDCT:15619004","SNOMEDCT:253018005","medgen:83122"],"information_content":85.5}
{"id":"MONDO:0006216","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gallbladder adenoma","equivalent_identifiers":["MONDO:0006216","DOID:0050893","EFO:1000263","UMLS:C0238137","MEDDRA:10076240","NCIT:C7720","SNOMEDCT:1196878005","medgen:116046"],"information_content":92.8}
{"id":"MONDO:0006234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"grade III prostatic intraepithelial neoplasia","equivalent_identifiers":["MONDO:0006234","DOID:8634","EFO:1000283","UMLS:C0154088","UMLS:C5200982","MEDDRA:10007385","NCIT:C3642","SNOMEDCT:446711009","SNOMEDCT:92691004","medgen:1684800","ICD10:D07.5","ICD9:233.4"],"information_content":100.0}
{"id":"MONDO:0006235","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"granular cell tumor","equivalent_identifiers":["MONDO:0006235","DOID:2411","EFO:1000284","UMLS:C0085167","UMLS:C2930931","MESH:C535558","MESH:D016586","MEDDRA:10060980","MEDDRA:10060982","NCIT:C3474","SNOMEDCT:404035005","medgen:88345"],"information_content":77.6}
{"id":"MONDO:0006238","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"growth hormone-producing pituitary gland adenoma","equivalent_identifiers":["MONDO:0006238","DOID:6255","orphanet:96256","EFO:1000287","UMLS:C0278864","UMLS:C0346302","MESH:D049912","MEDDRA:10018758","MEDDRA:10062451","NCIT:C7461","SNOMEDCT:1156906001","SNOMEDCT:254957009","medgen:82999"],"information_content":87.2}
{"id":"MONDO:0006243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatoid adenocarcinoma","equivalent_identifiers":["MONDO:0006243","DOID:0060534","EFO:1000293","UMLS:C1266090","NCIT:C66950","SNOMEDCT:128706007","medgen:220413"],"information_content":87.2}
{"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":"MONDO:0006275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung giant cell carcinoma","equivalent_identifiers":["MONDO:0006275","DOID:5583","EFO:1000332","UMLS:C0206703","UMLS:C0345960","MESH:D018286","NCIT:C3779","NCIT:C4452","SNOMEDCT:254631008","SNOMEDCT:42596004","medgen:83392"],"information_content":90.9}
{"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:0006279","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung sarcomatoid carcinoma","equivalent_identifiers":["MONDO:0006279","DOID:0080777","EFO:1000336","UMLS:C1708781","UMLS:C3873337","MEDDRA:10081400","NCIT:C45540","SNOMEDCT:1260072008","SNOMEDCT:707460002","medgen:353871"],"information_content":84.2}
{"id":"MONDO:0006280","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lung sclerosing hemangioma","equivalent_identifiers":["MONDO:0006280","DOID:495","DOID:5766","EFO:1000337","UMLS:C1334455","UMLS:C1509148","MESH:D047868","MEDDRA:10019402","MEDDRA:10055904","MEDDRA:10081106","NCIT:C5656","SNOMEDCT:707365008","SNOMEDCT:725967000","medgen:734262"],"information_content":100.0}
{"id":"MONDO:0006288","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant adrenal gland pheochromocytoma","equivalent_identifiers":["MONDO:0006288","DOID:0080347","EFO:1000348","UMLS:C0334419","MEDDRA:10051710","NCIT:C4220","SNOMEDCT:21851000119103","SNOMEDCT:29370006","medgen:87238"],"information_content":90.9}
{"id":"MONDO:0006292","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant mesothelioma","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:0006294","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pleural cancer","equivalent_identifiers":["MONDO:0006294","DOID:5158","EFO:1000362","UMLS:C0153494","MEDDRA:10026351","MEDDRA:10026352","MEDDRA:10026354","NCIT:C3547","SNOMEDCT:363433009","medgen:56307","ICD10:C38.4","ICD9:163"],"information_content":75.0}
{"id":"MONDO:0006295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant urinary system neoplasm","equivalent_identifiers":["MONDO:0006295","DOID:3996","EFO:1000363","UMLS:C0348371","UMLS:C0751571","UMLS:C1644719","MEDDRA:10026615","MEDDRA:10026706","MEDDRA:10061272","NCIT:C192668","NCIT:C9297","SNOMEDCT:363517008","SNOMEDCT:419052002","SNOMEDCT:448233000","medgen:738719","ICD10:C68.9","ICD9:189.9"],"information_content":57.3}
{"id":"MONDO:0006301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metanephric adenoma","equivalent_identifiers":["MONDO:0006301","DOID:6404","EFO:1000373","UMLS:C1266045","NCIT:C27253","SNOMEDCT:128670007","medgen:266093"],"information_content":100.0}
{"id":"MONDO:0006309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucinous gastric adenocarcinoma","equivalent_identifiers":["MONDO:0006309","DOID:3716","EFO:1000386","UMLS:C1334809","MEDDRA:10073376","NCIT:C5248","medgen:235338"],"information_content":100.0}
{"id":"MONDO:0006312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myofibroma","equivalent_identifiers":["MONDO:0006312","DOID:4386","EFO:1000389","UMLS:C1266121","MESH:D047708","MEDDRA:10075377","NCIT:C7052","SNOMEDCT:128917003","SNOMEDCT:1290943000","medgen:220420"],"information_content":92.8}
{"id":"MONDO:0006325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ocular melanoma","equivalent_identifiers":["MONDO:0006325","DOID:1752","EFO:1000403","UMLS:C0558356","MEDDRA:10030052","MEDDRA:10086693","NCIT:C8562","SNOMEDCT:274087000","medgen:107846"],"information_content":70.7}
{"id":"MONDO:0006329","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"olfactory neuroblastoma","equivalent_identifiers":["MONDO:0006329","DOID:369","EFO:1000407","NCIT:C3789","icd11.foundation:2007774165"],"information_content":84.8}
{"id":"MONDO:0006330","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ossifying fibromyxoid tumor","equivalent_identifiers":["MONDO:0006330","DOID:2685","EFO:1000408","UMLS:C1266128","NCIT:C6582","SNOMEDCT:128745002","SNOMEDCT:404076001","medgen:226846"],"information_content":90.9}
{"id":"MONDO:0006335","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian endometrioid adenocarcinoma","equivalent_identifiers":["MONDO:0006335","DOID:5828","orphanet:454723","EFO:1000416","EFO:1001515","UMLS:C0346163","MEDDRA:10073269","NCIT:C7979","SNOMEDCT:254852002","medgen:91087"],"information_content":79.9}
{"id":"MONDO:0006346","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic acinar cell carcinoma","equivalent_identifiers":["MONDO:0006346","DOID:5742","orphanet:424046","EFO:1000439","UMLS:C0279661","MEDDRA:10073363","NCIT:C7977","SNOMEDCT:783771003","medgen:83540"],"information_content":87.2}
{"id":"MONDO:0006359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PEComa","equivalent_identifiers":["MONDO:0006359","DOID:2643","orphanet:595133","EFO:1000464","UMLS:C1300127","MESH:D054973","MEDDRA:10085067","MEDDRA:10085258","MEDDRA:10085259","NCIT:C38150","SNOMEDCT:388601000","medgen:266246"],"information_content":76.0}
{"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":"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:0006375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chorioangioma","equivalent_identifiers":["MONDO:0006375","DOID:277","EFO:1000480","UMLS:C0677608","MEDDRA:10056718","NCIT:C4868","SNOMEDCT:237268002","SNOMEDCT:699948001","medgen:195606","HP:0100883"],"information_content":100.0}
{"id":"MONDO:0006390","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"prostate small cell carcinoma","equivalent_identifiers":["MONDO:0006390","DOID:7141","EFO:1000499","UMLS:C1300585","UMLS:C5574976","NCIT:C6766","SNOMEDCT:1208457007","SNOMEDCT:396198006","medgen:266251"],"information_content":88.2}
{"id":"MONDO:0006406","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sarcomatoid carcinoma","equivalent_identifiers":["MONDO:0006406","DOID:4015","EFO:1000520","UMLS:C0205697","MEDDRA:10080324","NCIT:C27004","SNOMEDCT:23109009","SNOMEDCT:65692009","medgen:60009"],"information_content":76.2}
{"id":"MONDO:0006411","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sinonasal undifferentiated carcinoma","equivalent_identifiers":["MONDO:0006411","DOID:0080799","EFO:1000527","UMLS:C1710096","MESH:C537344","MEDDRA:10082256","NCIT:C54294","SNOMEDCT:697993003","medgen:313704"],"information_content":100.0}
{"id":"MONDO:0006423","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"soft tissue chondroma","equivalent_identifiers":["MONDO:0006423","DOID:3814","EFO:1000540","UMLS:C1275277","NCIT:C9482","SNOMEDCT:404078000","medgen:266157"],"information_content":90.9}
{"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: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:0006471","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tracheal adenoid cystic carcinoma","equivalent_identifiers":["MONDO:0006471","DOID:4875","EFO:1000598","UMLS:C0345945","MEDDRA:10081152","NCIT:C6051","SNOMEDCT:254619006","medgen:91058"],"information_content":100.0}
{"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:0006485","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uterine carcinosarcoma","equivalent_identifiers":["MONDO:0006485","DOID:6171","EFO:1000613","UMLS:C0035369","UMLS:C0280630","MESH:D012192","MEDDRA:10007261","MEDDRA:10007508","MEDDRA:10038996","MEDDRA:10038997","MEDDRA:10061493","NCIT:C42700","SNOMEDCT:105635000","SNOMEDCT:702369008","medgen:83678"],"information_content":85.5}
{"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: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":"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:0006507","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemochromatosis","equivalent_identifiers":["MONDO:0006507","DOID:2352","OMIM.PS:235200","EFO:1000642","UMLS:C0018995","UMLS:C0392514","MESH:D006432","MEDDRA:10006489","MEDDRA:10018872","MEDDRA:10019478","MEDDRA:10057873","MEDDRA:10057874","NCIT:C84481","SNOMEDCT:35400008","SNOMEDCT:399053004","SNOMEDCT:399144008","SNOMEDCT:399170009","SNOMEDCT:399187006","medgen:140272","ICD10:E83.11"],"information_content":84.2}
{"id":"MONDO:0006509","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papillary carcinoma","equivalent_identifiers":["MONDO:0006509","DOID:3113","EFO:1000646","UMLS:C0007133","MESH:D002291","NCIT:C2927","SNOMEDCT:25910003","medgen:40105"],"information_content":65.2}
{"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:0006519","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rectal cancer","equivalent_identifiers":["MONDO:0006519","DOID:1993","EFO:1000657","UMLS:C0949022","MEDDRA:10026418","NCIT:C7418","SNOMEDCT:363351006","medgen:181763","ICD10:C20","ICD9:154.1"],"information_content":70.8}
{"id":"MONDO:0006523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrodermatitis","equivalent_identifiers":["MONDO:0006523","DOID:2722","EFO:1000664","UMLS:C0001197","MESH:D000169","MEDDRA:10000593","NCIT:C84532","SNOMEDCT:8197001","medgen:1301"],"information_content":95.4}
{"id":"MONDO:0006524","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrodermatitis chronica atrophicans","equivalent_identifiers":["MONDO:0006524","DOID:0060344","EFO:1000665","UMLS:C0029805","UMLS:C0263421","MEDDRA:10000594","SNOMEDCT:4340003","medgen:537873","icd11.foundation:1761234822","ICD9:701.8"],"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":"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:0006534","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholinergic urticaria","equivalent_identifiers":["MONDO:0006534","DOID:14443","EFO:1000679","UMLS:C0152230","MEDDRA:10008675","MEDDRA:10046740","SNOMEDCT:73098005","medgen:508939","icd11.foundation:855107748","ICD10:L50.5","ICD9:708.5"],"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:0006539","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse lipomatosis","equivalent_identifiers":["MONDO:0006539","DOID:3923","EFO:1000687","UMLS:C1333298","NCIT:C6504","medgen:272546"],"information_content":100.0}
{"id":"MONDO:0006540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dyshidrosis","equivalent_identifiers":["MONDO:0006540","DOID:9230","EFO:1000688","UMLS:C0032633","MESH:D011146","MEDDRA:10013912","MEDDRA:10013913","MEDDRA:10036144","MEDDRA:10036145","MEDDRA:10080165","SNOMEDCT:402567004","medgen:10851","ICD9:705.81"],"information_content":100.0}
{"id":"MONDO:0006541","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa","equivalent_identifiers":["MONDO:0006541","DOID:2730","EFO:1000690","UMLS:C0014527","MESH:D004820","MEDDRA:10014989","NCIT:C67383","SNOMEDCT:61003004","medgen:41832","ICD10:Q81"],"information_content":72.9}
{"id":"MONDO:0006543","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa dystrophica","equivalent_identifiers":["MONDO:0006543","DOID:4959","orphanet:303","EFO:1000692","UMLS:C0079294","MESH:D016108","MEDDRA:10087381","NCIT:C84691","SNOMEDCT:254185007","medgen:37179","icd11.foundation:1060981106"],"information_content":82.6}
{"id":"MONDO:0006544","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythema infectiosum","equivalent_identifiers":["MONDO:0006544","DOID:8743","EFO:1000693","UMLS:C0085273","MESH:D016731","MEDDRA:10015214","MEDDRA:10015215","MEDDRA:10016670","MEDDRA:10034099","NCIT:C84695","SNOMEDCT:34730008","medgen:43142","icd11.foundation:352375140","ICD10:B08.3","ICD9:057.0"],"information_content":100.0}
{"id":"MONDO:0006545","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythema multiforme","equivalent_identifiers":["MONDO:0006545","DOID:0050185","EFO:1000694","UMLS:C0014742","MESH:D004892","MEDDRA:10015218","MEDDRA:10057783","MEDDRA:10057866","MEDDRA:10087609","NCIT:C3024","SNOMEDCT:36715001","medgen:4527","icd11.foundation:364669853"],"information_content":92.8}
{"id":"MONDO:0006546","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erythematosquamous dermatosis","equivalent_identifiers":["MONDO:0006546","DOID:9097","EFO:1000695","UMLS:C0014747","MEDDRA:10015239","NCIT:C34591","SNOMEDCT:54792008","medgen:5014","ICD9:690"],"information_content":100.0}
{"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":"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: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":"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":"MONDO:0006561","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"eyelid hypopigmentation","equivalent_identifiers":["MONDO:0006561","DOID:11668","EFO:1000713","UMLS:C0155212","MEDDRA:10021065","SNOMEDCT:68210006","medgen:509852","ICD10:H02.73","ICD9:374.53"],"information_content":100.0}
{"id":"MONDO:0006564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"irritant dermatitis","equivalent_identifiers":["MONDO:0006564","DOID:2772","EFO:1000718","UMLS:C0162823","MESH:D017453","MEDDRA:10056540","NCIT:C27151","SNOMEDCT:110979008","medgen:56513","ICD10:L24.9"],"information_content":95.4}
{"id":"MONDO:0006566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"keratosis","equivalent_identifiers":["MONDO:0006566","DOID:161","EFO:1000720","UMLS:C0022579","UMLS:C0022593","MESH:D007642","MEDDRA:10023357","MEDDRA:10023368","NCIT:C34745","NCIT:C34747","SNOMEDCT:254666005","SNOMEDCT:707209001","medgen:9625"],"information_content":68.6}
{"id":"MONDO:0006571","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lichen nitidus","equivalent_identifiers":["MONDO:0006571","DOID:8573","EFO:1000725","UMLS:C0162849","MESH:D017513","MEDDRA:10024428","SNOMEDCT:41890004","medgen:58196","icd11.foundation:525392264","ICD10:L44.1","ICD9:697.1"],"information_content":100.0}
{"id":"MONDO:0006572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lichen planus","equivalent_identifiers":["MONDO:0006572","DOID:9201","EFO:1000726","UMLS:C0023646","MESH:D008010","MEDDRA:10024429","NCIT:C3189","SNOMEDCT:4776004","medgen:9753","icd11.foundation:1402978031","ICD10:L43","ICD9:697.0"],"information_content":83.6}
{"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":"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":"MONDO:0006576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ludwig's angina","equivalent_identifiers":["MONDO:0006576","DOID:4558","EFO:1000730","UMLS:C0024081","MESH:D008158","MEDDRA:10048806","MEDDRA:10078047","SNOMEDCT:196542004","medgen:44205"],"information_content":100.0}
{"id":"MONDO:0006578","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mediastinal lipomatosis","equivalent_identifiers":["MONDO:0006578","DOID:3926","EFO:1000732","UMLS:C1334662","NCIT:C27488","medgen:233682"],"information_content":100.0}
{"id":"MONDO:0006579","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"melanoacanthoma","equivalent_identifiers":["MONDO:0006579","DOID:11684","EFO:1000733","UMLS:C1321683","NCIT:C27548","SNOMEDCT:394727000","medgen:272110"],"information_content":100.0}
{"id":"MONDO:0006580","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"miliaria","equivalent_identifiers":["MONDO:0006580","DOID:1382","EFO:1000734","UMLS:C0026113","MESH:D008883","MEDDRA:10027627","NCIT:C34820","SNOMEDCT:63951004","medgen:44443","icd11.foundation:204420062","ICD10:L74.3"],"information_content":85.5}
{"id":"MONDO:0006581","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"miliaria rubra","equivalent_identifiers":["MONDO:0006581","DOID:11153","EFO:1000735","UMLS:C0162423","MEDDRA:10019343","MEDDRA:10027628","MEDDRA:10036667","MEDDRA:10085607","SNOMEDCT:44279002","SNOMEDCT:72658003","medgen:57902","icd11.foundation:1245016385","ICD10:L74.0","ICD9:705.1"],"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:0006585","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodermatitis","equivalent_identifiers":["MONDO:0006585","DOID:3309","EFO:1000740","UMLS:C0027822","MESH:D009450","MEDDRA:10029263","NCIT:C111963","SNOMEDCT:267854005","medgen:45056"],"information_content":100.0}
{"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: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:0006592","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parapsoriasis","equivalent_identifiers":["MONDO:0006592","DOID:9088","EFO:1000747","UMLS:C0030491","MESH:D010267","MEDDRA:10033898","NCIT:C3312","SNOMEDCT:88233000","medgen:10579","ICD10:L41","ICD9:696.2"],"information_content":90.9}
{"id":"MONDO:0006594","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pemphigus","equivalent_identifiers":["MONDO:0006594","DOID:9182","EFO:1000749","UMLS:C0030807","MESH:D010392","MEDDRA:10034280","NCIT:C34909","SNOMEDCT:65172003","medgen:45369","icd11.foundation:191659986","ICD10:L10","ICD9:694.4"],"information_content":85.5}
{"id":"MONDO:0006597","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"photosensitivity disease","equivalent_identifiers":["MONDO:0006597","DOID:3159","EFO:1000752","UMLS:C0031762","MESH:D010787","SNOMEDCT:22649008","medgen:19281"],"information_content":89.4}
{"id":"MONDO:0006599","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"physical urticaria","equivalent_identifiers":["MONDO:0006599","DOID:0060220","EFO:1000754","UMLS:C4551831","MEDDRA:10034990","MEDDRA:10046751","SNOMEDCT:402601007","medgen:1639813","HP:0410134"],"information_content":88.2}
{"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":"MONDO:0006607","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Other acne","equivalent_identifiers":["MONDO:0006607","DOID:9098","EFO:1000763","UMLS:C0029485","UMLS:C0036502","MESH:D012625","MEDDRA:10039781","MEDDRA:10039782","MEDDRA:10045756","MEDDRA:10061511","SNOMEDCT:3441005","medgen:48599","ICD10:L70.8","ICD9:706.1"],"information_content":80.9}
{"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:0006609","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dandruff","equivalent_identifiers":["MONDO:0006609","DOID:8941","EFO:1000765","UMLS:C0221244","MESH:D063807","MEDDRA:10011859","MEDDRA:10039787","MEDDRA:10039794","MEDDRA:10072825","MEDDRA:10072826","SNOMEDCT:156329007","SNOMEDCT:400201008","ICD10:L21.0","ICD9:690.11"],"information_content":100.0}
{"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":"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":"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:0006618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vibratory urticaria","equivalent_identifiers":["MONDO:0006618","DOID:1554","EFO:1000775","UMLS:C0157743","MEDDRA:10047396","MEDDRA:10052571","SNOMEDCT:51247001","medgen:510413","ICD10:L50.4","ICD9:708.4","HP:0410138"],"information_content":95.4}
{"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":"MONDO:0006626","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diabetic neuropathy","equivalent_identifiers":["MONDO:0006626","DOID:9743","EFO:1000783","UMLS:C0011882","MESH:D003929","MEDDRA:10012680","NCIT:C26748","SNOMEDCT:230572002","medgen:8353","ICD9:250.6"],"information_content":92.8}
{"id":"MONDO:0006633","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acalculous cholecystitis","equivalent_identifiers":["MONDO:0006633","DOID:2828","EFO:1000790","UMLS:C0267841","MESH:D042101","MEDDRA:10000347","NCIT:C35578","SNOMEDCT:19968009","medgen:82762"],"information_content":92.8}
{"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: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":"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:0006641","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"afferent loop syndrome","equivalent_identifiers":["MONDO:0006641","DOID:8438","EFO:1000799","UMLS:C0001727","MESH:D000343","MEDDRA:10056245","SNOMEDCT:20813000","medgen:161"],"information_content":100.0}
{"id":"MONDO:0006646","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"angioleiomyoma","equivalent_identifiers":["MONDO:0006646","DOID:4265","EFO:1000084","EFO:1000806","UMLS:C0206653","MESH:D018229","MEDDRA:10068762","NCIT:C3747","SNOMEDCT:86959002","medgen:60202"],"information_content":89.4}
{"id":"MONDO:0006650","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anterior spinal artery syndrome","equivalent_identifiers":["MONDO:0006650","DOID:6712","EFO:1000810","UMLS:C0221069","UMLS:C0263855","MESH:D020759","MEDDRA:10002703","MEDDRA:10081361","NCIT:C197841","SNOMEDCT:14363008","SNOMEDCT:282785008","SNOMEDCT:2972007","medgen:65125","ICD10:G83.82"],"information_content":100.0}
{"id":"MONDO:0006654","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anthracosis","equivalent_identifiers":["MONDO:0006654","DOID:10327","EFO:1000814","UMLS:C0003165","MESH:D055008","MEDDRA:10009803","MEDDRA:10009804","MEDDRA:10073051","NCIT:C34390","SNOMEDCT:29422001","medgen:8107","ICD9:500","HP:0033375"],"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":"MONDO:0006656","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aortitis","equivalent_identifiers":["MONDO:0006656","DOID:519","EFO:1000816","UMLS:C0003509","MESH:D001025","MEDDRA:10002921","MEDDRA:10002922","NCIT:C97085","SNOMEDCT:70933002","medgen:8154","ICD10:I77.6"],"information_content":95.4}
{"id":"MONDO:0006658","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arteriolosclerosis","equivalent_identifiers":["MONDO:0006658","DOID:5162","EFO:1000819","UMLS:C0878486","MESH:D050379","NCIT:C35543","SNOMEDCT:17941002","medgen:209223"],"information_content":90.9}
{"id":"MONDO:0006659","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arteriosclerosis obliterans","equivalent_identifiers":["MONDO:0006659","DOID:5160","EFO:1000820","UMLS:C0003851","MESH:D001162","MEDDRA:10065418","SNOMEDCT:361133006","medgen:13915"],"information_content":100.0}
{"id":"MONDO:0006660","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthus reaction","equivalent_identifiers":["MONDO:0006660","DOID:1556","EFO:1000821","UMLS:C0003907","MESH:D001183","MEDDRA:10003419","MEDDRA:10003420","NCIT:C34400","SNOMEDCT:29548007","SNOMEDCT:402413008","medgen:2458","ICD10:T78.41","ICD9:995.21"],"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":"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":"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":"MONDO:0006668","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bacterial conjunctivitis","equivalent_identifiers":["MONDO:0006668","DOID:9700","EFO:1000829","UMLS:C0009768","MESH:D003234","MEDDRA:10037568","MEDDRA:10051626","MEDDRA:10061784","NCIT:C53656","SNOMEDCT:128350005","SNOMEDCT:243321006","SNOMEDCT:243462001","medgen:3209","icd11.foundation:902481358","ICD10:H10.0"],"information_content":88.2}
{"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:0006676","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"beriberi","equivalent_identifiers":["MONDO:0006676","DOID:0070313","DOID:13725","EFO:1000837","UMLS:C0005122","MESH:D001602","MEDDRA:10004481","MEDDRA:10004482","NCIT:C34418","SNOMEDCT:36656008","medgen:543","icd11.foundation:632832064","ICD10:E51.1","ICD9:265.0"],"information_content":92.8}
{"id":"MONDO:0006677","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bile reflux","equivalent_identifiers":["MONDO:0006677","DOID:12237","EFO:1000838","UMLS:C0005403","MESH:D001655","medgen:2243"],"information_content":100.0}
{"id":"MONDO:0006678","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bladder stones","equivalent_identifiers":["MONDO:0006678","DOID:11355","EFO:1000839","UMLS:C0005683","MESH:D001744","MEDDRA:10005001","MEDDRA:10006987","MEDDRA:10007029","MEDDRA:10042141","SNOMEDCT:70650003","medgen:14149","HP:0010474"],"information_content":95.4}
{"id":"MONDO:0006679","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"bladder neck obstruction","equivalent_identifiers":["MONDO:0006679","DOID:13948","EFO:1000840","UMLS:C0005694","UMLS:C5848242","MESH:D001748","MEDDRA:10005053","MEDDRA:10005060","MEDDRA:10005087","MEDDRA:10029971","MEDDRA:10046529","MEDDRA:10071445","NCIT:C79541","SNOMEDCT:399072004","SNOMEDCT:416991005","medgen:14151","icd11.foundation:441939472","ICD10:N32.0","ICD9:596.0","HP:0041047"],"information_content":100.0}
{"id":"MONDO:0006682","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachial plexus neuritis","equivalent_identifiers":["MONDO:0006682","DOID:3689","EFO:1000843","UMLS:C0221759","MESH:D020968","MEDDRA:10006072","MEDDRA:10052511","MEDDRA:10063020","MEDDRA:10073002","NCIT:C84600","SNOMEDCT:72893007","medgen:113170"],"information_content":95.4}
{"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":"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":"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":"MONDO:0006692","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central pontine myelinolysis","equivalent_identifiers":["MONDO:0006692","DOID:636","EFO:1000857","UMLS:C0206083","MESH:D017590","MEDDRA:10007968","MEDDRA:10007969","NCIT:C84623","SNOMEDCT:6807001","medgen:64511","icd11.foundation:558060012","ICD10:G37.2"],"information_content":100.0}
{"id":"MONDO:0006694","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral atherosclerosis","equivalent_identifiers":["MONDO:0006694","DOID:12720","EFO:1000860","UMLS:C0007775","MEDDRA:10003602","MEDDRA:10008095","NCIT:C34459","SNOMEDCT:55382008","medgen:40189","icd11.foundation:1710003414","ICD10:I67.2","ICD9:437.0"],"information_content":100.0}
{"id":"MONDO:0006698","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cholecystolithiasis","equivalent_identifiers":["MONDO:0006698","DOID:11151","EFO:1000864","UMLS:C0947622","MESH:D041761","MEDDRA:10006990","MEDDRA:10006992","MEDDRA:10017640","MEDDRA:10017644","MEDDRA:10042140","MEDDRA:10049890","NCIT:C34443","medgen:215268"],"information_content":95.4}
{"id":"MONDO:0006699","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choledocholithiasis","equivalent_identifiers":["MONDO:0006699","DOID:11755","EFO:1000865","UMLS:C0701818","MESH:D042883","MEDDRA:10049891","medgen:148784"],"information_content":100.0}
{"id":"MONDO:0006700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"choroid cancer","equivalent_identifiers":["MONDO:0006700","DOID:12759","EFO:1000866","UMLS:C0153630","MESH:D002830","MEDDRA:10025839","NCIT:C3566","SNOMEDCT:363466008","medgen:57794","ICD10:C69.3","ICD9:190.6"],"information_content":83.1}
{"id":"MONDO:0006701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromophobe adenoma","equivalent_identifiers":["MONDO:0006701","DOID:3828","EFO:1000867","UMLS:C0001432","MESH:D000238","NCIT:C2857","SNOMEDCT:37039006","medgen:1747"],"information_content":100.0}
{"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":"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":"MONDO:0006712","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"corneal edema","equivalent_identifiers":["MONDO:0006712","DOID:11030","EFO:1000879","UMLS:C0010037","MESH:D015715","MEDDRA:10011007","MEDDRA:10011009","MEDDRA:10011033","MEDDRA:10014235","MEDDRA:10055911","MEDDRA:10055930","NCIT:C50508","SNOMEDCT:27194006","medgen:3242","ICD10:H18.20","ICD9:371.2"],"information_content":89.4}
{"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":"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:0006721","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"de Quervain disease","equivalent_identifiers":["MONDO:0006721","DOID:14107","EFO:1000891","UMLS:C0149870","MESH:D053684","MEDDRA:10037753","MEDDRA:10056698","MEDDRA:10056713","SNOMEDCT:21794005","medgen:101771","ICD10:M65.4","ICD9:727.04"],"information_content":100.0}
{"id":"MONDO:0006722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dental fluorosis","equivalent_identifiers":["MONDO:0006722","DOID:13711","EFO:1000892","UMLS:C0026618","MESH:D009050","MEDDRA:10014578","MEDDRA:10016819","MEDDRA:10028011","MEDDRA:10028012","MEDDRA:10043177","MEDDRA:10043178","NCIT:C85059","SNOMEDCT:120541000119103","SNOMEDCT:30265004","medgen:44506","ICD10:K00.3","ICD9:520.3"],"information_content":100.0}
{"id":"MONDO:0006723","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"denture stomatitis","equivalent_identifiers":["MONDO:0006723","DOID:11875","EFO:1000893","UMLS:C0038364","MESH:D013282","MEDDRA:10080528","SNOMEDCT:69254008","medgen:21333","ICD10:K12.1"],"information_content":100.0}
{"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:0006729","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"discrete subaortic stenosis","equivalent_identifiers":["MONDO:0006729","DOID:5804","EFO:1000901","UMLS:C0012628","MESH:D021922","medgen:3867"],"information_content":100.0}
{"id":"MONDO:0006730","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"drug psychosis","equivalent_identifiers":["MONDO:0006730","DOID:1742","EFO:1000902","UMLS:C0033937","MESH:D011605","MEDDRA:10013708","SNOMEDCT:191483003","medgen:46195","ICD9:292.1"],"information_content":100.0}
{"id":"MONDO:0006733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dry eye syndrome","equivalent_identifiers":["MONDO:0006733","DOID:10140","DOID:12895","EFO:1000906","UMLS:C0013238","MESH:D007638","MESH:D015352","MEDDRA:10013777","NCIT:C34553","SNOMEDCT:46152009","medgen:4411","ICD10:H04.12"],"information_content":95.4}
{"id":"MONDO:0006735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"duodenogastric reflux","equivalent_identifiers":["MONDO:0006735","DOID:4071","EFO:1000909","UMLS:C0013299","MESH:D004383","MEDDRA:10060865","SNOMEDCT:9733003","medgen:4420"],"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":"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":"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":"MONDO:0006742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endemic goiter","equivalent_identifiers":["MONDO:0006742","DOID:13198","EFO:1000916","UMLS:C0018022","MESH:D006043","MEDDRA:10018496","MEDDRA:10018501","MEDDRA:10040699","MEDDRA:10068848","MEDDRA:10068849","MEDDRA:10074036","NCIT:C35023","SNOMEDCT:267369002","SNOMEDCT:56805008","medgen:5357","ICD10:E01.2","ICD9:240.0"],"information_content":92.8}
{"id":"MONDO:0006744","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endolymphatic hydrops","equivalent_identifiers":["MONDO:0006744","DOID:9848","EFO:1000918","UMLS:C0206586","MESH:D018159","MEDDRA:10049934","MEDDRA:10049944","MEDDRA:10063899","SNOMEDCT:27621000119100","SNOMEDCT:70831000119103","SNOMEDCT:9794007","medgen:60183","ICD10:H81.0"],"information_content":89.4}
{"id":"MONDO:0006745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endometrioid stromal sarcoma","equivalent_identifiers":["MONDO:0006745","DOID:4226","orphanet:213711","EFO:1000919","UMLS:C0206630","UMLS:C2239246","UMLS:C2959547","MESH:D018203","MEDDRA:10048397","MEDDRA:10057649","NCIT:C126998","NCIT:C8973","SNOMEDCT:1178986006","SNOMEDCT:447266004","SNOMEDCT:699356008","SNOMEDCT:699358009","SNOMEDCT:70555003","medgen:60196"],"information_content":77.8}
{"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":"MONDO:0006752","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"erysipeloid","equivalent_identifiers":["MONDO:0006752","DOID:0050061","EFO:1000928","UMLS:C1276801","MESH:D004887","MEDDRA:10015146","MEDDRA:10015147","SNOMEDCT:266005008","SNOMEDCT:400105005","medgen:266170"],"information_content":100.0}
{"id":"MONDO:0006755","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"euthyroid sick syndrome","equivalent_identifiers":["MONDO:0006755","DOID:2856","EFO:1000931","UMLS:C0015190","MESH:D005067","MEDDRA:10015549","NCIT:C113170","SNOMEDCT:237542005","medgen:41908","ICD10:E07.81","ICD9:790.94"],"information_content":100.0}
{"id":"MONDO:0006760","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fetal erythroblastosis","equivalent_identifiers":["MONDO:0006760","DOID:1098","EFO:1000937","UMLS:C0014761","MESH:D004899","MEDDRA:10015250","MEDDRA:10015251","MEDDRA:10019513","MEDDRA:10056202","NCIT:C101304","SNOMEDCT:387705004","medgen:4530","ICD10:P55","ICD9:773"],"information_content":90.9}
{"id":"MONDO:0006762","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"freemartinism","equivalent_identifiers":["MONDO:0006762","DOID:4671","EFO:1000939","UMLS:C0016697","MESH:D005611"],"information_content":100.0}
{"id":"MONDO:0006763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frozen shoulder","equivalent_identifiers":["MONDO:0006763","DOID:14188","EFO:1000941","UMLS:C0149848","UMLS:C0311223","UMLS:C1306835","MEDDRA:10001286","MEDDRA:10017391","SNOMEDCT:399114005","SNOMEDCT:78715003","medgen:90227","ICD10:M75.0","ICD9:726.0"],"information_content":100.0}
{"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:0006767","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastric antral vascular ectasia","equivalent_identifiers":["MONDO:0006767","DOID:2493","EFO:1000945","UMLS:C0267211","MESH:C538665","MESH:D020252","MEDDRA:10051585","MEDDRA:10090114","NCIT:C84724","SNOMEDCT:43935004","medgen:82753"],"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:0006770","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"giant cell reparative granuloma","equivalent_identifiers":["MONDO:0006770","DOID:1866","EFO:1000950","UMLS:C0018194","UMLS:C0162375","UMLS:C4049867","MESH:D006101","MEDDRA:10007932","NCIT:C121893","NCIT:C173930","NCIT:C3067","SNOMEDCT:15350006","SNOMEDCT:43917008","medgen:102385","ICD10:M27.1","ICD9:526.3"],"information_content":92.8}
{"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:0006782","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemometra","equivalent_identifiers":["MONDO:0006782","DOID:9958","EFO:1000962","UMLS:C0018948","MESH:D006409","MEDDRA:10018859","MEDDRA:10019443","SNOMEDCT:38280009","medgen:6776","ICD10:N85.7","ICD9:621.4"],"information_content":100.0}
{"id":"MONDO:0006783","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemopneumothorax","equivalent_identifiers":["MONDO:0006783","DOID:2718","EFO:1000963","UMLS:C0019077","MESH:D006468","MEDDRA:10048644","MEDDRA:10060632","SNOMEDCT:16632002","medgen:9208","ICD10:J94.2"],"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":"MONDO:0006787","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hidrocystoma","equivalent_identifiers":["MONDO:0006787","DOID:3893","EFO:1000967","UMLS:C0206672","UMLS:C1704334","UMLS:C1704335","MESH:D018251","MEDDRA:10059019","NCIT:C205459","NCIT:C3760","NCIT:C7565","SNOMEDCT:1296894004","SNOMEDCT:254716005","SNOMEDCT:254725004","SNOMEDCT:80549000","medgen:61656","icd11.foundation:2040265542"],"information_content":92.8}
{"id":"MONDO:0006790","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypercementosis","equivalent_identifiers":["MONDO:0006790","DOID:12733","EFO:1000970","UMLS:C0020441","MESH:D006936","MEDDRA:10020596","SNOMEDCT:78537008","medgen:9360","ICD10:K03.4","ICD9:521.5","HP:0033788"],"information_content":100.0}
{"id":"MONDO:0006792","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyperglobulinemic purpura","equivalent_identifiers":["MONDO:0006792","DOID:3325","EFO:1000972","UMLS:C0034151","MESH:D011694","SNOMEDCT:402852007","medgen:19585"],"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":"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":"MONDO:0006798","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypervitaminosis A","equivalent_identifiers":["MONDO:0006798","DOID:9972","EFO:1000978","UMLS:C0020579","MESH:D006986","MEDDRA:10000033","MEDDRA:10020916","SNOMEDCT:64559002","medgen:9378","icd11.foundation:1465667896","ICD10:E67.0","ICD9:278.2"],"information_content":95.4}
{"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:0006803","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inferior myocardial infarction","equivalent_identifiers":["MONDO:0006803","DOID:5850","EFO:1000983","UMLS:C0340305","MESH:D056989","MEDDRA:10021922","MEDDRA:10057546","medgen:83305"],"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":"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:0006811","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intracranial hypotension","equivalent_identifiers":["MONDO:0006811","DOID:4723","EFO:1000993","UMLS:C0524812","MESH:D019585","MEDDRA:10049977","SNOMEDCT:433691000124104","medgen:141851","icd11.foundation:363695674","ICD10:G96.81"],"information_content":100.0}
{"id":"MONDO:0006812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intracranial vasospasm","equivalent_identifiers":["MONDO:0006812","DOID:13100","EFO:1000994","UMLS:C0751895","MESH:D020301","medgen:199760"],"information_content":100.0}
{"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: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":"MONDO:0006817","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juxtacortical osteosarcoma","equivalent_identifiers":["MONDO:0006817","DOID:3373","EFO:1001000","UMLS:C0206642","MESH:D018217","NCIT:C8969","SNOMEDCT:128918008","SNOMEDCT:1290868004","medgen:60197"],"information_content":95.4}
{"id":"MONDO:0006823","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Klinefelter syndrome","equivalent_identifiers":["MONDO:0006823","DOID:1921","EFO:1001006","UMLS:C0022735","MESH:D007713","MEDDRA:10023463","MEDDRA:10048229","NCIT:C34752","SNOMEDCT:22053006","SNOMEDCT:405769009","medgen:44033","icd11.foundation:1937385304","ICD10:Q98.0","ICD9:758.7"],"information_content":90.9}
{"id":"MONDO:0006825","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kuru","equivalent_identifiers":["MONDO:0006825","DOID:648","orphanet:454745","EFO:1001008","UMLS:C0022802","MESH:D007729","MEDDRA:10023497","MEDDRA:10023498","SNOMEDCT:86188000","medgen:9653","icd11.foundation:553889510","ICD10:A81.81","ICD9:046.0"],"information_content":95.4}
{"id":"MONDO:0006826","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"kwashiorkor","equivalent_identifiers":["MONDO:0006826","DOID:13579","EFO:1001009","UMLS:C0022806","MESH:D007732","MEDDRA:10023504","NCIT:C197922","SNOMEDCT:58262005","medgen:7233","icd11.foundation:1656486805","ICD10:E40","ICD9:260"],"information_content":100.0}
{"id":"MONDO:0006828","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasal cavity and paranasal sinus lethal midline granuloma","equivalent_identifiers":["MONDO:0006828","DOID:9072","EFO:1001013","UMLS:C0018197","MESH:D006103","MEDDRA:10021233","MEDDRA:10024255","NCIT:C8196","SNOMEDCT:58961005","medgen:42292","ICD10:M31.2","ICD9:446.3"],"information_content":100.0}
{"id":"MONDO:0006831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"leukostasis","equivalent_identifiers":["MONDO:0006831","DOID:12986","EFO:1001016","UMLS:C0282548","MESH:D018921","MEDDRA:10024404","MEDDRA:10074608","NCIT:C4062","SNOMEDCT:30419000","medgen:84394"],"information_content":100.0}
{"id":"MONDO:0006837","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"low tension glaucoma","equivalent_identifiers":["MONDO:0006837","DOID:13544","EFO:1001022","UMLS:C0152136","MESH:D057066","MEDDRA:10024931","MEDDRA:10067013","SNOMEDCT:50485007","medgen:56263","ICD10:H40.12","ICD9:365.12"],"information_content":95.4}
{"id":"MONDO:0006839","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Lutembacher syndrome","equivalent_identifiers":["MONDO:0006839","DOID:1998","EFO:1001024","UMLS:C0024164","MESH:D008185","SNOMEDCT:204319006","medgen:9825"],"information_content":100.0}
{"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":"MONDO:0006848","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"marasmus","equivalent_identifiers":["MONDO:0006848","DOID:12328","EFO:1001033","UMLS:C0086588","UMLS:C0311276","MEDDRA:10026820","MEDDRA:10029859","NCIT:C195501","SNOMEDCT:29740003","medgen:39251","ICD10:E41","ICD9:261"],"information_content":95.4}
{"id":"MONDO:0006849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mastitis","equivalent_identifiers":["MONDO:0006849","DOID:10690","EFO:1001034","UMLS:C0024894","MESH:D008413","MEDDRA:10006262","MEDDRA:10026883","MEDDRA:10073963","NCIT:C53662","SNOMEDCT:45198002","medgen:9901","HP:0040407"],"information_content":95.4}
{"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":"MONDO:0006853","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mesenchymal chondrosarcoma","equivalent_identifiers":["MONDO:0006853","DOID:4545","EFO:1001041","UMLS:C0206637","MESH:D018211","MEDDRA:10027389","NCIT:C3737","SNOMEDCT:1290898006","SNOMEDCT:56565002","medgen:104904"],"information_content":87.2}
{"id":"MONDO:0006858","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mouth disorder","equivalent_identifiers":["MONDO:0006858","DOID:403","EFO:1001047","UMLS:C0026636","MESH:D009059","MEDDRA:10067621","NCIT:C27641","NCIT:C3240","SNOMEDCT:118938008","medgen:6448"],"information_content":59.8}
{"id":"MONDO:0006861","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloid sarcoma","equivalent_identifiers":["MONDO:0006861","DOID:8683","orphanet:86850","EFO:1001052","UMLS:C4721505","MESH:D023981","MEDDRA:10008583","MEDDRA:10028562","NCIT:C3520","SNOMEDCT:188737002","SNOMEDCT:94719007","medgen:1656669","icd11.foundation:1988933820","icd11.foundation:921720320","ICD10:C92.3"],"information_content":81.7}
{"id":"MONDO:0006862","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myofascial pain syndrome","equivalent_identifiers":["MONDO:0006862","DOID:431","EFO:1001054","UMLS:C0027073","MESH:D009209","MEDDRA:10048780","SNOMEDCT:24693007","medgen:6496"],"information_content":95.4}
{"id":"MONDO:0006863","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myxosarcoma","equivalent_identifiers":["MONDO:0006863","DOID:4136","EFO:1001056","UMLS:C0027155","MESH:D009236","NCIT:C3255","SNOMEDCT:28351005","medgen:6508"],"information_content":100.0}
{"id":"MONDO:0006864","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"necrotizing sialometaplasia","equivalent_identifiers":["MONDO:0006864","DOID:12901","EFO:1001057","UMLS:C0037033","MESH:D012797","MEDDRA:10072173","MEDDRA:10072176","NCIT:C201845","SNOMEDCT:109769000","medgen:48659"],"information_content":100.0}
{"id":"MONDO:0006868","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurogenic bowel","equivalent_identifiers":["MONDO:0006868","DOID:13419","EFO:1001061","UMLS:C0695242","MESH:D055496","MEDDRA:10048657","SNOMEDCT:425671009","medgen:151969","ICD9:564.81"],"information_content":100.0}
{"id":"MONDO:0006873","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Malnutrition","equivalent_identifiers":["MONDO:0006873","DOID:5113","EFO:1001067","UMLS:C0011156","UMLS:C1285390","UMLS:C4761312","MESH:D003677","MEDDRA:10046058","MEDDRA:10085968","NCIT:C157938","NCIT:C3669","SNOMEDCT:363246002","SNOMEDCT:70241007","medgen:1677627"],"information_content":71.3}
{"id":"MONDO:0006874","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"obstructive jaundice","equivalent_identifiers":["MONDO:0006874","DOID:13603","EFO:1001068","UMLS:C0022354","MESH:D041781","MEDDRA:10008640","MEDDRA:10023129","MEDDRA:10029982","MEDDRA:10049893","MEDDRA:10087822","NCIT:C34742","SNOMEDCT:44018007","SNOMEDCT:59848001","medgen:43988"],"information_content":100.0}
{"id":"MONDO:0006875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ocular hypertension","equivalent_identifiers":["MONDO:0006875","DOID:9282","EFO:1001069","UMLS:C0028840","MESH:D009798","MEDDRA:10020784","MEDDRA:10030043","NCIT:C3285","SNOMEDCT:4210003","medgen:10423","icd11.foundation:535283437","ICD10:H40.05","ICD9:365.04"],"information_content":100.0}
{"id":"MONDO:0006876","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ocular tuberculosis","equivalent_identifiers":["MONDO:0006876","DOID:0070344","EFO:1001070","UMLS:C0041322","MESH:D014392","MEDDRA:10015970","MEDDRA:10044819","MEDDRA:10044826","SNOMEDCT:49107007","medgen:52887"],"information_content":100.0}
{"id":"MONDO:0006877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oophoritis","equivalent_identifiers":["MONDO:0006877","DOID:10974","EFO:1001071","UMLS:C0029051","MESH:D009869","MEDDRA:10030345","MEDDRA:10074952","SNOMEDCT:76047005","medgen:14486","ICD10:N70.92","HP:0031259"],"information_content":88.2}
{"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":"MONDO:0006881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orbital cellulitis","equivalent_identifiers":["MONDO:0006881","DOID:11234","EFO:1001076","UMLS:C0149507","MESH:D054517","MEDDRA:10007918","MEDDRA:10031036","NCIT:C99000","SNOMEDCT:194005002","medgen:57681","icd11.foundation:1330743591","ICD10:H05.01","ICD9:376.01"],"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:0006883","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Pancoast tumor","equivalent_identifiers":["MONDO:0006883","DOID:8007","EFO:1001080","UMLS:C0549471","MEDDRA:10033571","MEDDRA:10033572","NCIT:C7527","SNOMEDCT:254638002","medgen:107810"],"information_content":92.8}
{"id":"MONDO:0006884","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"panophthalmitis","equivalent_identifiers":["MONDO:0006884","DOID:13732","EFO:1001081","UMLS:C0030332","MESH:D010202","MEDDRA:10033683","SNOMEDCT:33382000","medgen:10561","icd11.foundation:349386559","ICD9:360.02"],"information_content":100.0}
{"id":"MONDO:0006887","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parametritis","equivalent_identifiers":["MONDO:0006887","DOID:1260","EFO:1001084","UMLS:C0030455","MESH:D010249","MEDDRA:10033847","MEDDRA:10068899","SNOMEDCT:280483007","medgen:18295"],"information_content":100.0}
{"id":"MONDO:0006888","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paraneoplastic polyneuropathy","equivalent_identifiers":["MONDO:0006888","DOID:8681","EFO:1001085","UMLS:C0270932","MESH:D020364","MEDDRA:10007507","MEDDRA:10036114","MEDDRA:10036115","MEDDRA:10062289","NCIT:C3981","SNOMEDCT:21361000119109","SNOMEDCT:77659000","medgen:124380","ICD9:357.3"],"information_content":95.4}
{"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: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":"MONDO:0006894","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"patellofemoral pain syndrome","equivalent_identifiers":["MONDO:0006894","DOID:14284","EFO:1001092","UMLS:C0877149","UMLS:C2315536","MESH:D046788","MEDDRA:10002697","MEDDRA:10049143","SNOMEDCT:430725003","medgen:164080"],"information_content":100.0}
{"id":"MONDO:0006895","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"penile neoplasm","equivalent_identifiers":["MONDO:0006895","DOID:11624","EFO:1001094","UMLS:C0030849","MESH:D010412","MEDDRA:10034308","MEDDRA:10049570","MEDDRA:10061913","NCIT:C3317","SNOMEDCT:126896003","medgen:14656","HP:0100850"],"information_content":69.5}
{"id":"MONDO:0006896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peptic esophagitis","equivalent_identifiers":["MONDO:0006896","DOID:13976","EFO:1001095","UMLS:C0014869","MESH:D004942","MEDDRA:10038262","MEDDRA:10038263","SNOMEDCT:57643001","medgen:5028","ICD9:530.11"],"information_content":100.0}
{"id":"MONDO:0006898","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"periarthritis","equivalent_identifiers":["MONDO:0006898","DOID:2964","EFO:1001097","UMLS:C0031037","MESH:D010489","MEDDRA:10034464","SNOMEDCT:50921008","medgen:45397"],"information_content":100.0}
{"id":"MONDO:0006899","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pericoronitis","equivalent_identifiers":["MONDO:0006899","DOID:3671","EFO:1001098","UMLS:C0031055","MESH:D010497","MEDDRA:10034504","SNOMEDCT:22240003","medgen:45399","icd11.foundation:1764886525"],"information_content":100.0}
{"id":"MONDO:0006903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peroneal nerve paralysis","equivalent_identifiers":["MONDO:0006903","DOID:6925","EFO:1001102","UMLS:C0270810","UMLS:C1275816","UMLS:C1384669","MEDDRA:10033563","MEDDRA:10033828","MEDDRA:10034701","NCIT:C27061","SNOMEDCT:399088004","medgen:78733"],"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:0006907","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pilar sheath acanthoma","equivalent_identifiers":["MONDO:0006907","DOID:4322","EFO:1001107","UMLS:C0346005","NCIT:C4468","SNOMEDCT:1295378006","SNOMEDCT:254693008","medgen:83398","icd11.foundation:281473034"],"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":"MONDO:0006912","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pneumatosis cystoides intestinalis","equivalent_identifiers":["MONDO:0006912","DOID:13249","EFO:1001113","UMLS:C0032266","MESH:D011006","MEDDRA:10049732","MEDDRA:10070461","SNOMEDCT:117631000119103","SNOMEDCT:17465007","medgen:18527"],"information_content":100.0}
{"id":"MONDO:0006915","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polyradiculoneuropathy","equivalent_identifiers":["MONDO:0006915","DOID:4308","EFO:1001116","UMLS:C0032587","MESH:D011129","MEDDRA:10087869","SNOMEDCT:128078004","medgen:46012"],"information_content":88.2}
{"id":"MONDO:0006916","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"postcholecystectomy syndrome","equivalent_identifiers":["MONDO:0006916","DOID:9740","EFO:1001117","UMLS:C0152099","MESH:D017562","MEDDRA:10057229","SNOMEDCT:90782003","medgen:101815","icd11.foundation:157319976","ICD10:K91.5","ICD9:576.0"],"information_content":100.0}
{"id":"MONDO:0006920","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Prediabetes","equivalent_identifiers":["MONDO:0006920","DOID:11716","EFO:1001121","UMLS:C0362046","MESH:D011236","MEDDRA:10006026","MEDDRA:10036481","MEDDRA:10036482","MEDDRA:10065542","NCIT:C122685","SNOMEDCT:714628002","medgen:83928"],"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":"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: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":"MONDO:0006936","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary valve stenosis","equivalent_identifiers":["MONDO:0006936","DOID:6420","EFO:1001138","UMLS:C0034089","MESH:D011666","MEDDRA:10037450","MEDDRA:10041993","medgen:18768","icd11.foundation:611886666"],"information_content":92.8}
{"id":"MONDO:0006937","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulpitis","equivalent_identifiers":["MONDO:0006937","DOID:11121","EFO:1001139","UMLS:C0034103","MESH:D011671","MEDDRA:10037463","MEDDRA:10037464","NCIT:C52595","SNOMEDCT:32620007","medgen:19580","icd11.foundation:576344431","ICD10:K04.0","ICD9:522.0"],"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":"MONDO:0006940","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"radial nerve lesion","equivalent_identifiers":["MONDO:0006940","DOID:12170","EFO:1001143","UMLS:C0154744","MEDDRA:10024250","MEDDRA:10037750","MEDDRA:10061477","SNOMEDCT:193137006","medgen:102317","ICD10:G56.3","ICD9:354.3"],"information_content":100.0}
{"id":"MONDO:0006946","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Renal rickets","equivalent_identifiers":["MONDO:0006946","DOID:13068","EFO:1001152","UMLS:C0035086","UMLS:C1527410","UMLS:C4076240","MESH:D012080","MEDDRA:10038489","MEDDRA:10038519","MEDDRA:10078095","MEDDRA:10078096","NCIT:C114827","SNOMEDCT:16726004","SNOMEDCT:713313000","medgen:20524","ICD10:N25.0","ICD9:588.0"],"information_content":100.0}
{"id":"MONDO:0006949","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinal drusen","equivalent_identifiers":["MONDO:0006949","DOID:2569","EFO:1001155","UMLS:C0035312","MESH:D015593","MEDDRA:10062776","SNOMEDCT:247153005","medgen:20549","ICD9:362.57"],"information_content":92.8}
{"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":"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":"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":"MONDO:0006953","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rh isoimmunization","equivalent_identifiers":["MONDO:0006953","DOID:4175","EFO:1001159","UMLS:C0035404","MESH:D012203","MEDDRA:10039016","MEDDRA:10039038","MEDDRA:10056231","MEDDRA:10056232","NCIT:C113150","SNOMEDCT:44795003","medgen:11224"],"information_content":100.0}
{"id":"MONDO:0006955","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rheumatic heart disease","equivalent_identifiers":["MONDO:0006955","DOID:0050827","EFO:1001161","UMLS:C0035439","MESH:D012214","MEDDRA:10039059","MEDDRA:10039061","MEDDRA:10046148","MEDDRA:10062110","NCIT:C34882","SNOMEDCT:23685000","medgen:20565"],"information_content":82.1}
{"id":"MONDO:0006957","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"root caries","equivalent_identifiers":["MONDO:0006957","DOID:14089","EFO:1001163","UMLS:C0162644","MESH:D017213","SNOMEDCT:234975001","SNOMEDCT:30512007","medgen:57954","ICD9:521.08"],"information_content":100.0}
{"id":"MONDO:0006961","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"scrapie","equivalent_identifiers":["MONDO:0006961","DOID:5434","EFO:1001168","UMLS:C0036457","MESH:D012608","medgen:19903"],"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: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:0006965","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"secondary hypertrophic osteoarthropathy","equivalent_identifiers":["MONDO:0006965","DOID:10393","EFO:1001174","UMLS:C0029412","UMLS:C0178703","MESH:D010005","MEDDRA:10020877","MEDDRA:10020878","MEDDRA:10037428","MEDDRA:10068640","SNOMEDCT:203357004","medgen:18211","icd11.foundation:1325516156","ICD10:M89.4","ICD9:731.2"],"information_content":100.0}
{"id":"MONDO:0006966","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"secondary Parkinson disease","equivalent_identifiers":["MONDO:0006966","DOID:13548","EFO:1001175","UMLS:C0030569","MESH:D010302","MEDDRA:10039872","NCIT:C34899","SNOMEDCT:230292008","SNOMEDCT:265377002","medgen:10592","ICD10:G21","ICD9:332.1"],"information_content":95.4}
{"id":"MONDO:0006968","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"shoulder impingement syndrome","equivalent_identifiers":["MONDO:0006968","DOID:14276","EFO:1001178","UMLS:C0376685","UMLS:C1655733","UMLS:C5779645","MESH:D019534","MEDDRA:10049039","SNOMEDCT:202849001","SNOMEDCT:239960007","medgen:138249","ICD10:M75.4","HP:0030881"],"information_content":100.0}
{"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":"MONDO:0006970","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sialolithiasis","equivalent_identifiers":["MONDO:0006970","DOID:12905","EFO:1001180","UMLS:C0036091","MESH:D015494","MEDDRA:10007023","MEDDRA:10039394","MEDDRA:10040631","SNOMEDCT:28826002","medgen:48536","icd11.foundation:1984849248","ICD10:K11.5","ICD9:527.5"],"information_content":100.0}
{"id":"MONDO:0006975","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"smooth muscle tumor","equivalent_identifiers":["MONDO:0006975","DOID:4310","EFO:1001185","UMLS:C0206658","MESH:D018235","NCIT:C3751","SNOMEDCT:75109009","medgen:104911"],"information_content":64.9}
{"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: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":"MONDO:0006980","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"struma ovarii","equivalent_identifiers":["MONDO:0006980","DOID:2640","EFO:1001192","UMLS:C0038478","MESH:D013330","MEDDRA:10062581","NCIT:C7468","SNOMEDCT:24327009","medgen:20977","icd11.foundation:185581438"],"information_content":92.8}
{"id":"MONDO:0006982","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subacute thyroiditis","equivalent_identifiers":["MONDO:0006982","DOID:7165","EFO:1001194","UMLS:C0040149","MESH:D013968","MEDDRA:10012410","MEDDRA:10018705","MEDDRA:10042298","MEDDRA:10043784","NCIT:C35071","NCIT:C35828","SNOMEDCT:38727009","SNOMEDCT:428041004","medgen:21549","icd11.foundation:1320394379","ICD10:E06.1","ICD9:245.1"],"information_content":92.8}
{"id":"MONDO:0006983","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subclavian steal syndrome","equivalent_identifiers":["MONDO:0006983","DOID:13002","EFO:1001195","UMLS:C0038531","MESH:D013349","MEDDRA:10042335","MEDDRA:10050180","NCIT:C35044","SNOMEDCT:15258001","SNOMEDCT:300921000","medgen:20983","icd11.foundation:2123391417","ICD9:435.2","HP:6000038"],"information_content":100.0}
{"id":"MONDO:0006984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subdural empyema","equivalent_identifiers":["MONDO:0006984","DOID:11389","EFO:1001196","UMLS:C0038539","UMLS:C5970472","MESH:D013354","MEDDRA:10042360","MEDDRA:10083083","SNOMEDCT:1342321009","SNOMEDCT:37660004","medgen:52531"],"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":"MONDO:0006988","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sulfhemoglobinemia","equivalent_identifiers":["MONDO:0006988","DOID:12451","EFO:1001200","UMLS:C0038732","MESH:D013436","MEDDRA:10042481","MEDDRA:10042490","MEDDRA:10055636","SNOMEDCT:32117000","medgen:52562"],"information_content":95.4}
{"id":"MONDO:0006989","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"suppurative periapical periodontitis","equivalent_identifiers":["MONDO:0006989","DOID:2562","EFO:1001202","UMLS:C0031024","UMLS:C1328248","MESH:D010482","MEDDRA:10034460","MEDDRA:10049607","NCIT:C34913","SNOMEDCT:196341005","medgen:10652"],"information_content":95.4}
{"id":"MONDO:0006994","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tarsal tunnel syndrome","equivalent_identifiers":["MONDO:0006994","DOID:12526","EFO:1001208","UMLS:C0039319","MESH:D013641","MEDDRA:10043121","NCIT:C85183","SNOMEDCT:47374004","medgen:52646","icd11.foundation:854657246","ICD10:G57.5","ICD9:355.5"],"information_content":100.0}
{"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: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":"MONDO:0006999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tooth disorder","equivalent_identifiers":["MONDO:0006999","DOID:1091","EFO:1001216","UMLS:C0040435","UMLS:C1704330","MESH:D014076","MEDDRA:10012322","MEDDRA:10013276","MEDDRA:10044034","MEDDRA:10044035","NCIT:C35077","SNOMEDCT:105995000","SNOMEDCT:234947003","medgen:11852"],"information_content":67.4}
{"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":"MONDO:0007002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trochlear nerve disorder","equivalent_identifiers":["MONDO:0007002","DOID:13864","EFO:1001220","UMLS:C0423092","UMLS:C0751939","UMLS:C4048184","MESH:D020432","MEDDRA:10065836","MEDDRA:10074765","MEDDRA:10085542","NCIT:C78395","SNOMEDCT:246781001","medgen:888203","ICD10:H49.1","ICD9:378.53"],"information_content":90.9}
{"id":"MONDO:0007004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type III hypersensitivity disease","equivalent_identifiers":["MONDO:0007004","DOID:1557","EFO:1001222","UMLS:C0020951","UMLS:C0301918","MESH:D007105","MEDDRA:10045265","NCIT:C114346","SNOMEDCT:83699005","medgen:7021"],"information_content":92.8}
{"id":"MONDO:0007006","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ulnar neuropathy","equivalent_identifiers":["MONDO:0007006","DOID:4613","EFO:1001224","UMLS:C0154743","MESH:D020424","SNOMEDCT:359837005","medgen:57596"],"information_content":92.8}
{"id":"MONDO:0007008","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"uremia","equivalent_identifiers":["MONDO:0007008","DOID:4676","EFO:1001226","UMLS:C0041948","MESH:D014511","MEDDRA:10046320","MEDDRA:10046321","MEDDRA:10046369","MEDDRA:10046370","SNOMEDCT:44730006","medgen:12008"],"information_content":95.4}
{"id":"MONDO:0007009","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ureterolithiasis","equivalent_identifiers":["MONDO:0007009","DOID:14146","EFO:1001228","UMLS:C0041952","MESH:D053039","MEDDRA:10077989","NCIT:C114696","SNOMEDCT:31054009","medgen:21775","ICD10:N20.1","ICD9:592.1"],"information_content":100.0}
{"id":"MONDO:0007012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"variant Creutzfeldt-Jakob disease","equivalent_identifiers":["MONDO:0007012","DOID:5435","orphanet:576370","EFO:1001233","UMLS:C0376329","MEDDRA:10064199","NCIT:C128438","SNOMEDCT:304603007","medgen:138163","icd11.foundation:378572696"],"information_content":95.4}
{"id":"MONDO:0007015","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"viral meningitis","equivalent_identifiers":["MONDO:0007015","DOID:10310","EFO:1001236","UMLS:C0025297","MESH:D008587","MEDDRA:10027260","MEDDRA:10027262","MEDDRA:10046236","MEDDRA:10047469","NCIT:C118298","SNOMEDCT:58170007","medgen:44355","ICD10:A87","ICD9:047.9"],"information_content":92.8}
{"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:0007018","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulvitis","equivalent_identifiers":["MONDO:0007018","DOID:3901","EFO:1001239","UMLS:C0042996","MESH:D014847","MEDDRA:10047780","SNOMEDCT:63144007","medgen:22690","icd11.foundation:727252860","ICD10:N76.2"],"information_content":88.2}
{"id":"MONDO:0007019","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vulvovaginitis","equivalent_identifiers":["MONDO:0007019","DOID:2273","EFO:1001240","UMLS:C0042998","MESH:D014848","MEDDRA:10047794","MEDDRA:10047798","NCIT:C35131","SNOMEDCT:53277000","medgen:12129","ICD10:N76.0"],"information_content":89.4}
{"id":"MONDO:0007020","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Wernicke encephalopathy","equivalent_identifiers":["MONDO:0007020","DOID:2384","EFO:1001241","UMLS:C0043121","MESH:D014899","MEDDRA:10047911","MEDDRA:10047912","SNOMEDCT:21007002","medgen:53073","icd11.foundation:1360335041","ICD10:E51.2"],"information_content":100.0}
{"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":"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":"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: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":"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: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":"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":"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":"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":"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: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: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":"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":"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":"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":"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: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: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":"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:0007074","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ainhum","equivalent_identifiers":["MONDO:0007074","DOID:11329","OMIM:103400","UMLS:C0001860","MESH:D000387","MEDDRA:10001524","NCIT:C84544","SNOMEDCT:38528001","medgen:1381","icd11.foundation:1138885521","ICD10:L94.6","ICD9:136.0","HP:0031009"],"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: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":"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: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":"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":"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: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: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":"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: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":"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: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":"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":"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: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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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: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":"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":"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":"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: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: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":"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":"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: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: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":"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: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: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: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":"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: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: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":"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":"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: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":"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":"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":"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:0007243","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Burkitt lymphoma","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: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":"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":"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:0007254","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast cancer","equivalent_identifiers":["MONDO:0007254","DOID:1612","UMLS:C0006142","MEDDRA:10006187","MEDDRA:10006192","MEDDRA:10006203","MEDDRA:10006315","MEDDRA:10006317","MEDDRA:10025541","NCIT:C9335","SNOMEDCT:254837009","medgen:651","ICD10:C50"],"information_content":57.7}
{"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: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: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: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: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":"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: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: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: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":"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: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":"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":"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":"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":"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: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":"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: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: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: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":"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: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":"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":"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":"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: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: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: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: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":"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":"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: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: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":"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":"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: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: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: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: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":"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":"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":"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":"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: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":"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":"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:0007432","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CADASIL","equivalent_identifiers":["MONDO:0007432","DOID:13945","OMIM.PS:125310","UMLS:C0751587","MEDDRA:10065551","MEDDRA:10065555","medgen:199687","ICD10:I67.850"],"information_content":90.9}
{"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: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":"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":"MONDO:0007446","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatosis papulosa nigra","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: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: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: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: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: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":"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":"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: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":"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: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":"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: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: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":"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: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: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: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":"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: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: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: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":"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: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":"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: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: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":"MONDO:0007576","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"esophageal cancer","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: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: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":"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: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":"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":"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":"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: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":"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: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: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":"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: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: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":"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: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: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: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":"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: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: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: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":"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: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: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":"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":"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":"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":"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":"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":"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: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":"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: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: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: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":"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":"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":"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":"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":"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: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: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":"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":"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":"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: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: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: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":"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: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":"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: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":"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: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: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: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":"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: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: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: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":"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: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: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: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: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":"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: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: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":"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":"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":"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":"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: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":"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":"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: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":"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: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: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: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":"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":"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":"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":"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":"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":"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":"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: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: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":"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: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":"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":"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: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":"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":"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: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: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: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: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":"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":"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":"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":"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":"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: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":"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: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: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: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: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":"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: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: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":"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":"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: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: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: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":"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":"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: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: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: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":"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":"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: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":"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: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: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:0008092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary neutrophilia","equivalent_identifiers":["MONDO:0008092","DOID:0090120","OMIM:162830","orphanet:279943","UMLS:C0543669","MESH:C563010","SNOMEDCT:129639005","medgen:154252"],"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":"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":"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":"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: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: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":"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":"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":"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: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":"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: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: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":"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: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":"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":"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":"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":"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":"MONDO:0008167","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermoid cyst of ovary","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: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: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: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":"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":"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":"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: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":"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":"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":"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":"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":"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: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":"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":"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: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: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":"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":"MONDO:0008231","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Peyronie disease","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: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: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":"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":"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":"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:0008259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial spontaneous pneumothorax","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: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":"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":"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: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":"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":"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: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":"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":"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":"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: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":"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":"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":"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: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: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: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: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":"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":"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:0008327","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"exfoliation syndrome","equivalent_identifiers":["MONDO:0008327","DOID:13641","EFO:0004235","UMLS:C0206368","UMLS:C0311341","MESH:D017889","MEDDRA:10037118","MEDDRA:10037119","MEDDRA:10072713","MEDDRA:10074026","MEDDRA:10074027","NCIT:C129025","SNOMEDCT:111514006","SNOMEDCT:44219007","medgen:60133","ICD9:365.52"],"information_content":95.4}
{"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":"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: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":"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":"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":"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: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":"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":"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":"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":"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: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":"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":"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: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":"MONDO:0008401","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pleomorphic adenoma","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: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":"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":"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":"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":"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: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":"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":"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":"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: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: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: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":"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: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: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: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":"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: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":"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":"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: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: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: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":"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":"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":"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: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: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":"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":"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: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":"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":"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":"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":"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: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":"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: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:0008564","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"DiGeorge syndrome","equivalent_identifiers":["MONDO:0008564","DOID:11198","OMIM:188400","UMLS:C0012236","UMLS:C1861129","UMLS:C5574896","MESH:C566051","MESH:D004062","MEDDRA:10012979","MEDDRA:10043664","MEDDRA:10084363","NCIT:C2989","SNOMEDCT:767263007","SNOMEDCT:77128003","medgen:4297","ICD10:D82.1","ICD9:279.11"],"information_content":88.2}
{"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:0008575","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nicotine dependence","equivalent_identifiers":["MONDO:0008575","DOID:0050742","EFO:0003768","UMLS:C0028043","UMLS:C0040336","MESH:D014029","MEDDRA:10043903","MEDDRA:10043906","MEDDRA:10056478","MEDDRA:10057852","NCIT:C35074","NCIT:C54203","SNOMEDCT:1345156008","SNOMEDCT:56294008","medgen:45086","icd11.foundation:1699574100","ICD10:F17","HP:0033543"],"information_content":89.4}
{"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: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":"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":"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":"MONDO:0008599","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"trigeminal neuralgia","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: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":"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: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":"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":"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":"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: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":"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":"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: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: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":"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: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: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: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":"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":"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":"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: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":"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: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":"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: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":"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":"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":"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":"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":"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: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":"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":"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":"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":"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":"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":"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":"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":"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: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: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":"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: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":"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":"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: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: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":"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":"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":"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: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":"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":"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: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":"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":"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":"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":"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":"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: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":"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: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: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: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: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: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":"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":"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":"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":"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: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":"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: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: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":"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: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":"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":"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":"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":"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":"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: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":"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":"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: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: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":"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":"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":"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":"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: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":"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":"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":"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":"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":"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":"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:0008890","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive bulbar palsy","equivalent_identifiers":["MONDO:0008890","DOID:681","EFO:0003783","UMLS:C0030442","MESH:D010244","MEDDRA:10036800","NCIT:C85026","SNOMEDCT:54304004","medgen:18290","icd11.foundation:1143049440","ICD10:G12.22","ICD9:335.22"],"information_content":92.8}
{"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":"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":"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":"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: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":"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":"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":"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: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":"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":"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":"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: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: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: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":"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":"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: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":"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:0008945","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myoclonic cerebellar dyssynergia","equivalent_identifiers":["MONDO:0008945","DOID:12707","OMIM:213400","EFO:1001053","UMLS:C0007761","UMLS:C3489626","MESH:D002527","SNOMEDCT:192871008","SNOMEDCT:41009006","SNOMEDCT:73495003","medgen:483579"],"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":"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":"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":"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: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: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":"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":"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: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":"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":"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":"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":"MONDO:0008977","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chondrosarcoma","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: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: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":"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":"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":"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: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: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: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":"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: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: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":"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: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: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: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":"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: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":"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":"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: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":"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":"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":"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":"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":"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: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":"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":"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":"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":"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: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: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: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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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: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: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":"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":"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":"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: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: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: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":"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: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":"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":"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: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: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":"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: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: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: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":"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: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":"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: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":"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":"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":"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: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":"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: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: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: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: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":"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: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":"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":"MONDO:0009234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"FLAUJEAC TRAIT","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: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:0009237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"focal epithelial hyperplasia","equivalent_identifiers":["MONDO:0009237","DOID:5362","OMIM:229045","EFO:0007275","UMLS:C0206067","MESH:D017573","MEDDRA:10076576","MEDDRA:10076577","NCIT:C97083","SNOMEDCT:36949004","SNOMEDCT:6121001","medgen:60066"],"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":"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: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: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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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: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":"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":"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":"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":"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":"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: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":"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: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":"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":"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":"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: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":"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":"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":"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: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":"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":"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: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: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: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":"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":"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: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":"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: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: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":"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":"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":"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: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: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: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":"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: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":"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":"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":"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":"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":"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: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":"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":"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":"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":"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":"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":"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: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":"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: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: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: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: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":"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":"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":"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":"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: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: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":"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":"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":"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: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: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: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":"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":"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: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: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":"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":"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: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: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: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":"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":"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: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":"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":"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":"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":"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":"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: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":"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":"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: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: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: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":"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":"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":"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":"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":"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":"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":"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":"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: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":"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":"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: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":"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: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: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: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: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: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":"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":"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":"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":"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":"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":"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: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":"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":"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":"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":"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":"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":"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":"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":"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: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: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: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":"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":"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: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: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":"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":"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:0009693","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"plasma cell myeloma","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: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":"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: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: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: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":"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: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":"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: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":"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":"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":"MONDO:0009726","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Nakajo syndrome","equivalent_identifiers":["MONDO:0009726","DOID:0050553","DOID:0060913","OMIM.PS:256040","orphanet:324977","UMLS:C1850568","MESH:C538334","MEDDRA:10087602","SNOMEDCT:702449004","medgen:376827"],"information_content":87.2}
{"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":"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":"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: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: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":"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: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":"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":"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:0009761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cystic hygroma","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":"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: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: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: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: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: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: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: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":"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: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":"MONDO:0009807","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteosarcoma","equivalent_identifiers":["MONDO:0009807","DOID:3347","EFO:0000637","UMLS:C0206639","MESH:D012516","MESH:D018213","medgen:10501"],"information_content":77.8}
{"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: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: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: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":"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: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":"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":"MONDO:0009831","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant pancreatic neoplasm","equivalent_identifiers":["MONDO:0009831","DOID:1793","EFO:1000359","UMLS:C0153458","UMLS:C0153459","UMLS:C0153460","UMLS:C0153463","MEDDRA:10007071","MEDDRA:10025762","MEDDRA:10025954","MEDDRA:10026521","NCIT:C194089","NCIT:C194090","NCIT:C194091","NCIT:C9005","SNOMEDCT:187791002","SNOMEDCT:187792009","SNOMEDCT:363419009","ICD10:C25.0","ICD10:C25.1","ICD10:C25.2","ICD9:157.0","ICD9:157.1","ICD9:157.2","ICD9:157.8","KEGG.DISEASE:05212"],"information_content":65.9}
{"id":"MONDO:0009832","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic agenesis","equivalent_identifiers":["MONDO:0009832","DOID:0050877","OMIM.PS:260370","orphanet:2805","UMLS:C1850096","UMLS:C4305001","UMLS:C5195568","MESH:C564908","SNOMEDCT:719044008","medgen:1681783","icd11.foundation:634711891"],"information_content":89.4}
{"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":"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: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: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":"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: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":"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":"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: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":"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: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":"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":"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":"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":"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":"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: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":"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":"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":"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: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":"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":"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: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: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":"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":"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":"MONDO:0009928","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pulmonary alveolar microlithiasis","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":"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":"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":"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":"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: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":"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: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":"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":"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":"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":"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: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":"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":"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":"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: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":"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":"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":"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: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":"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":"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":"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: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: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":"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: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":"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":"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: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":"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":"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":"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: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: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: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: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: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":"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: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":"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":"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":"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":"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":"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":"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":"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":"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":"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: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":"MONDO:0010108","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"testicular germ cell tumor","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: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":"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":"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":"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":"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:0010136","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid dyshormonogenesis 4","equivalent_identifiers":["MONDO:0010136","DOID:0112188","OMIM:274800","UMLS:C0342195","MESH:C562770","NCIT:C131435","SNOMEDCT:17885001","medgen:87429"],"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:0010138","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyrotoxicosis","equivalent_identifiers":["MONDO:0010138","DOID:7997","EFO:0009190","UMLS:C0040156","MESH:D013971","MEDDRA:10043789","NCIT:C61469","SNOMEDCT:286909009","SNOMEDCT:90739004","medgen:11814","icd11.foundation:1470387017","ICD10:E05.9","ICD9:242"],"information_content":92.8}
{"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":"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: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":"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: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":"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":"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":"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: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":"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:0010169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 2A","equivalent_identifiers":["MONDO:0010169","DOID:0110838","OMIM:276901","UMLS:C1848634","MESH:C536490","medgen:338513"],"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:0010171","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Usher syndrome type 1C","equivalent_identifiers":["MONDO:0010171","DOID:0110830","OMIM:276904","UMLS:C1848604","MESH:C564753","medgen:338506"],"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":"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: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: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: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: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":"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":"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: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":"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":"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: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":"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":"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: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: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":"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: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: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: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: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":"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":"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:0010228","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hearing loss, X-linked 3","equivalent_identifiers":["MONDO:0010228","DOID:0111736","OMIM:300030","UMLS:C3888089","MESH:C564727","medgen:854758"],"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":"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: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: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":"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: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: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":"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: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: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: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: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: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":"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":"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: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":"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: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: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: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":"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: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: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":"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: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":"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":"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":"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":"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: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: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: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: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":"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: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: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: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: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: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: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":"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":"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: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: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: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: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: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: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":"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":"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":"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: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":"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":"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":"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: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: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":"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: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: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":"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: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: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":"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: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: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: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":"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: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":"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":"MONDO:0010434","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"synovial sarcoma","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: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: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:0010443","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macular degeneration, X-linked atrophic","equivalent_identifiers":["MONDO:0010443","DOID:0112157","OMIM:300834","UMLS:C3151784","medgen:463134"],"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: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":"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":"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: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":"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: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":"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: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: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: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: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: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: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: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: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":"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: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: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: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":"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: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: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":"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":"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":"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":"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: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: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":"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: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":"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: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":"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":"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: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:0010556","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked chondrodysplasia punctata","equivalent_identifiers":["MONDO:0010556","DOID:0060292","UMLS:C0263627","SNOMEDCT:66924005","medgen:538019","ICD10:Q77.3"],"information_content":92.8}
{"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":"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: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: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":"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: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: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: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: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":"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":"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: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: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: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":"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: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: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":"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":"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":"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: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":"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: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":"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":"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: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":"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: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":"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":"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: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":"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":"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: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: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":"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: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":"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: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: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: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":"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: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":"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: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: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: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: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: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: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":"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: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":"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":"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":"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: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: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: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":"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: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: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: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":"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: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":"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: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":"MONDO:0010745","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"beta-thalassemia-X-linked thrombocytopenia syndrome","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":"MONDO:0010747","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked dystonia-parkinsonism","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: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":"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":"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":"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":"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: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:0010775","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa-deafness syndrome","equivalent_identifiers":["MONDO:0010775","DOID:0110829","OMIM:500004","UMLS:C5779620","SNOMEDCT:57838006","medgen:1830314"],"information_content":100.0}
{"id":"MONDO:0010779","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial non-syndromic sensorineural hearing loss","equivalent_identifiers":["MONDO:0010779","DOID:0111751","OMIM:500008","orphanet:90641","UMLS:C3151897","medgen:463247"],"information_content":95.4}
{"id":"MONDO:0010781","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ataxia and polyneuropathy, adult-onset","equivalent_identifiers":["MONDO:0010781","DOID:0111750","OMIM:500010","UMLS:C1838916","MESH:C564020","medgen:374087"],"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: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":"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: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":"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":"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":"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":"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":"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: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: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: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: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: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":"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: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":"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: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":"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":"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: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: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: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: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":"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: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: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: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":"MONDO:0010860","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 3","equivalent_identifiers":["MONDO:0010860","DOID:0110488","OMIM:600316","UMLS:C1838263","MESH:C563961","medgen:325373"],"information_content":100.0}
{"id":"MONDO:0010862","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"type 1 diabetes mellitus 4","equivalent_identifiers":["MONDO:0010862","DOID:0110743","OMIM:600319","UMLS:C1838261","MESH:C563959","medgen:373925"],"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":"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: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":"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":"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:0010888","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"adenomyosis","equivalent_identifiers":["MONDO:0010888","DOID:288","OMIM:600458","EFO:1001757","UMLS:C0341858","UMLS:C5574708","MESH:D062788","MEDDRA:10014787","MEDDRA:10056268","MEDDRA:10057288","MEDDRA:10058953","NCIT:C6996","SNOMEDCT:237115002","SNOMEDCT:76376003","SNOMEDCT:784314006","medgen:1805484","icd11.foundation:171294592","ICD10:N80.0","ICD9:617.0","HP:0034326"],"information_content":95.4}
{"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: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: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: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: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: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: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":"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: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: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":"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: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: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":"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: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: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":"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":"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":"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":"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: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":"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":"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":"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: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: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":"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: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":"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: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: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: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: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: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":"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: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":"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":"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":"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: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":"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":"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: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: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: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: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: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: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":"MONDO:0011057","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebrovascular disorder","equivalent_identifiers":["MONDO:0011057","DOID:6713","EFO:0003763","UMLS:C0007820","MESH:D002561","MEDDRA:10008134","MEDDRA:10008136","MEDDRA:10008196","MEDDRA:10008198","MEDDRA:10013203","MEDDRA:10045652","MEDDRA:10083985","MEDDRA:10086412","NCIT:C2938","SNOMEDCT:62914000","medgen:858","ICD10:I67.9","ICD9:437.9"],"information_content":70.0}
{"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":"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: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: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":"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":"MONDO:0011087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 2","equivalent_identifiers":["MONDO:0011087","DOID:0110900","OMIM:601458","UMLS:C1832321","MESH:C563310","medgen:321934"],"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: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":"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":"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: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":"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":"MONDO:0011119","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"iridogoniodysgenesis","equivalent_identifiers":["MONDO:0011119","DOID:0050786","orphanet:98634","UMLS:C4013049","medgen:861486","icd11.foundation:2030725523"],"information_content":83.6}
{"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: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":"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: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: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: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: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":"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: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":"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: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: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: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":"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":"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: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: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: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: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: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":"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: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":"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":"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":"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: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":"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":"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: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: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: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":"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: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":"MONDO:0011259","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 22","equivalent_identifiers":["MONDO:0011259","DOID:0110400","OMIM:602594","UMLS:C3887981","medgen:854689"],"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: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":"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":"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: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":"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":"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":"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: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":"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":"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":"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":"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: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:0011307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schizophrenia 2","equivalent_identifiers":["MONDO:0011307","DOID:0070078","OMIM:603342","UMLS:C1864010","medgen:350323"],"information_content":100.0}
{"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":"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: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":"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: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:0011331","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital chylothorax","equivalent_identifiers":["MONDO:0011331","DOID:0060646","OMIM:603523","orphanet:264688","UMLS:C0340014","MESH:C535461","MEDDRA:10078770","NCIT:C98891","SNOMEDCT:233646003","medgen:87398","icd11.foundation:641475779"],"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":"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: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: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: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: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":"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":"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: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: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: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":"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: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: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: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: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:0011387","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psoriasis 4","equivalent_identifiers":["MONDO:0011387","DOID:0111280","OMIM:603935","UMLS:C1858958","medgen:347765"],"information_content":100.0}
{"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: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: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: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: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":"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:0011401","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease without neurofibrillary tangles","equivalent_identifiers":["MONDO:0011401","DOID:0110048","OMIM:604154","UMLS:C1858751","UMLS:C1970143","MESH:C536599","MESH:C566998","medgen:346983"],"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: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: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":"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: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: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: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":"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":"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":"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":"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:0011441","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complex regional pain syndrome type 1","equivalent_identifiers":["MONDO:0011441","DOID:1811","OMIM:604335","orphanet:99995","EFO:1001147","UMLS:C0034931","MESH:D012019","MEDDRA:10038249","MEDDRA:10038253","MEDDRA:10042442","MEDDRA:10064334","NCIT:C85042","SNOMEDCT:50642008","SNOMEDCT:734947007","medgen:11159","ICD10:G90.5","ICD9:337.2"],"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":"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":"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":"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: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: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: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: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":"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: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:0011476","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"MHC class I deficiency","equivalent_identifiers":["MONDO:0011476","DOID:0060009","OMIM.PS:604571","orphanet:34592","UMLS:C1858266","MESH:C565759","MEDDRA:10086668","NCIT:C171267","SNOMEDCT:725136003","medgen:346868","icd11.foundation:489749747"],"information_content":90.9}
{"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":"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":"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: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: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: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: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: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:0011521","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 7","equivalent_identifiers":["MONDO:0011521","DOID:0110882","OMIM:605225","UMLS:C1854573","MESH:C565353","medgen:381452"],"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: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":"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: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: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: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: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: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":"MONDO:0011536","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"optic atrophy 4","equivalent_identifiers":["MONDO:0011536","DOID:0111440","OMIM:605293","UMLS:C1854430","MESH:C565343","medgen:340236"],"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":"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: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":"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: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":"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: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: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: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: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:0011573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psoriasis 7","equivalent_identifiers":["MONDO:0011573","DOID:0111279","OMIM:605606","UMLS:C1854124","medgen:343057"],"information_content":100.0}
{"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":"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":"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: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:0011596","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dermatitis, atopic, 2","equivalent_identifiers":["MONDO:0011596","DOID:0110098","OMIM:605803","UMLS:C1853965","MESH:C565293","medgen:340100"],"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: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: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: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":"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":"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: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":"MONDO:0011616","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"holoprosencephaly 6","equivalent_identifiers":["MONDO:0011616","DOID:0110874","OMIM:605934","UMLS:C1853830","MESH:C565274","medgen:342979"],"information_content":100.0}
{"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: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":"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":"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: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: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: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":"MONDO:0011644","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pars planitis","equivalent_identifiers":["MONDO:0011644","DOID:12731","OMIM:606177","EFO:1001088","UMLS:C0030593","MESH:D015868","MEDDRA:10034052","NCIT:C34903","SNOMEDCT:314428001","SNOMEDCT:45688009","medgen:14623","icd11.foundation:127977237","ICD10:H30.2","ICD9:363.21"],"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:0011655","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"alveolar soft part sarcoma","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: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: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:0011661","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 5","equivalent_identifiers":["MONDO:0011661","DOID:0110889","OMIM:606348","UMLS:C1853438","MESH:C565234","medgen:342879"],"information_content":100.0}
{"id":"MONDO:0011662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Gambling","equivalent_identifiers":["MONDO:0011662","DOID:12399","OMIM:606349","EFO:1001926","UMLS:C0030662","MESH:D005715","MEDDRA:10017656","MEDDRA:10017657","MEDDRA:10034158","MEDDRA:10078070","NCIT:C94335","SNOMEDCT:18085000","medgen:14632","ICD10:F63.0","ICD9:312.31","HP:5200334"],"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":"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: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: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":"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: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: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: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:0011697","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Waardenburg syndrome type 2C","equivalent_identifiers":["MONDO:0011697","DOID:0110951","OMIM:606662","UMLS:C1847722","MESH:C564684","medgen:335755"],"information_content":100.0}
{"id":"MONDO:0011700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 6","equivalent_identifiers":["MONDO:0011700","DOID:0110907","OMIM:606674","UMLS:C1847692","MESH:C564681","medgen:376191"],"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: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: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:0011716","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute hemorrhagic leukoencephalitis","equivalent_identifiers":["MONDO:0011716","DOID:10992","OMIM:606752","EFO:0007132","UMLS:C0014077","MESH:D004684","MEDDRA:10058993","MEDDRA:10058994","NCIT:C84535","SNOMEDCT:72986009","medgen:4937"],"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":"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: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: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: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: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":"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":"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: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":"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: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: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: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: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:0011773","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anauxetic dysplasia","equivalent_identifiers":["MONDO:0011773","DOID:0080942","OMIM.PS:607095","orphanet:93347","UMLS:C1846796","MESH:C538256","SNOMEDCT:764460003","medgen:375972","icd11.foundation:1897630209"],"information_content":90.9}
{"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":"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":"MONDO:0011777","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Alzheimer disease 8","equivalent_identifiers":["MONDO:0011777","DOID:0110041","OMIM:607116","UMLS:C1846735","MESH:C564622","medgen:375956"],"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":"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: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: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: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:0011792","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thyroid dyshormonogenesis 6","equivalent_identifiers":["MONDO:0011792","DOID:0112189","OMIM:607200","UMLS:C1846632","MESH:C564608","medgen:375935"],"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: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: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":"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":"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":"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: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":"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":"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":"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":"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":"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":"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":"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: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: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":"MONDO:0011849","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psoriatic arthritis","equivalent_identifiers":["MONDO:0011849","DOID:9008","EFO:0003778","UMLS:C0003872","MESH:D015535","MEDDRA:10003377","MEDDRA:10037160","MEDDRA:10037162","MEDDRA:10037163","NCIT:C61277","SNOMEDCT:156370009","medgen:2077","icd11.foundation:868183264","ICD10:L40.5","ICD9:696.0"],"information_content":90.9}
{"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: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: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":"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: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: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: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: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: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":"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":"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":"MONDO:0011908","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile myelomonocytic leukemia","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: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: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":"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: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:0011926","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"psoriasis 9","equivalent_identifiers":["MONDO:0011926","DOID:0111284","OMIM:607857","UMLS:C1842897","medgen:334635"],"information_content":100.0}
{"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: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: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: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: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: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: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:0011952","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"amyotrophic lateral sclerosis type 7","equivalent_identifiers":["MONDO:0011952","DOID:0060199","OMIM:608031","UMLS:C1842674","MESH:C564300","SNOMEDCT:1204349002","medgen:334136"],"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: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: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: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: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: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: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: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: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: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: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":"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":"MONDO:0012000","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"specific phobia","equivalent_identifiers":["MONDO:0012000","DOID:599","OMIM:608251","EFO:1001918","UMLS:C0236801","MESH:C562465","MEDDRA:10040704","MEDDRA:10041446","NCIT:C35284","SNOMEDCT:54587008","medgen:65932","icd11.foundation:239513569","ICD10:F40.2"],"information_content":84.8}
{"id":"MONDO:0012003","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 39","equivalent_identifiers":["MONDO:0012003","DOID:0110497","OMIM:608265","UMLS:C1842342","MESH:C564265","NCIT:C129874","medgen:374909"],"information_content":100.0}
{"id":"MONDO:0012004","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"parathyroid gland carcinoma","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: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:0012022","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofacial cleft 4","equivalent_identifiers":["MONDO:0012022","DOID:0080398","OMIM:608371","UMLS:C1842143","MESH:C564251","medgen:331228"],"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: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: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:0012040","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 9","equivalent_identifiers":["MONDO:0012040","DOID:0110886","OMIM:608448","UMLS:C1838019","MESH:C563926","medgen:324926"],"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":"MONDO:0012049","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome VII","equivalent_identifiers":["MONDO:0012049","DOID:0060377","OMIM:608518","UMLS:C0796100","MESH:C563104","medgen:162907"],"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":"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":"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":"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: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: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: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":"MONDO:0012087","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 4","equivalent_identifiers":["MONDO:0012087","DOID:0110614","OMIM:608646","UMLS:C1837616","MESH:C535279","medgen:324841"],"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: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: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: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":"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: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: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: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: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":"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: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: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":"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: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":"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":"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":"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":"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":"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: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":"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":"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: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":"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: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":"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: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":"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":"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: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":"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: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":"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: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: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: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: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":"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: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: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:0012268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"AIDS","equivalent_identifiers":["MONDO:0012268","DOID:635","EFO:0000765","UMLS:C0001175","MESH:D000163","MEDDRA:10000563","MEDDRA:10000564","MEDDRA:10000565","MEDDRA:10000566","MEDDRA:10001509","MEDDRA:10003813","MEDDRA:10048476","MEDDRA:10052740","NCIT:C2851","SNOMEDCT:62479008","medgen:99"],"information_content":81.3}
{"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: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: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: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: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":"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: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: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: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: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":"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: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:0012306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cardiomyopathy, familial restrictive, 2","equivalent_identifiers":["MONDO:0012306","DOID:0111426","OMIM:609578","UMLS:C1865071","MESH:C566512","medgen:400673"],"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: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: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: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: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: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":"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: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:0012355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 28","equivalent_identifiers":["MONDO:0012355","DOID:0110486","OMIM:609823","UMLS:C1853276","MESH:C565218","NCIT:C129023","medgen:342839"],"information_content":100.0}
{"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: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: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":"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: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: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: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: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: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: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":"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: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: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: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: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":"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: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:0012418","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 62","equivalent_identifiers":["MONDO:0012418","DOID:0110514","OMIM:610143","UMLS:C1857820","MESH:C565719","medgen:387916"],"information_content":100.0}
{"id":"MONDO:0012420","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 49","equivalent_identifiers":["MONDO:0012420","DOID:0110506","OMIM:610153","UMLS:C1857811","MESH:C565717","NCIT:C129024","medgen:346670"],"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","equivalent_identifiers":["MONDO:0012421","DOID:0110501","OMIM:610154","UMLS:C1857809","MESH:C565716","medgen:341854"],"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":"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: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":"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: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":"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":"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: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: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: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: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":"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: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: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: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":"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: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: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":"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: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":"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:0012511","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"preterm premature rupture of the membranes","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: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: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: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: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: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: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: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: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: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: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: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":"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":"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: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: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: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: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: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":"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":"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: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":"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: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":"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: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":"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":"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: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":"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: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":"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":"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":"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":"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: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:0012610","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 10","equivalent_identifiers":["MONDO:0012610","DOID:0110885","OMIM:611081","UMLS:C1970207","MESH:C567021","medgen:370205"],"information_content":100.0}
{"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":"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: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: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":"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":"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: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: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: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: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: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: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: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":"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":"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":"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":"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":"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: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: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":"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: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":"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":"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":"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":"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: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: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":"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: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":"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: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":"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: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: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":"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":"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: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: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":"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":"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: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: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":"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: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: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":"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":"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: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":"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":"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: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: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: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: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:0012844","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary ciliary dyskinesia 8","equivalent_identifiers":["MONDO:0012844","DOID:0110616","OMIM:612274","UMLS:C2677085","MESH:C567373","medgen:393653"],"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: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":"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: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: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":"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":"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: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":"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":"MONDO:0012870","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosome 2q31.2 deletion syndrome","equivalent_identifiers":["MONDO:0012870","DOID:0060416","OMIM:612345","UMLS:C2676724","MESH:C567344","medgen:394109"],"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":"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: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":"MONDO:0012886","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 22","equivalent_identifiers":["MONDO:0012886","DOID:0110905","OMIM:612380","UMLS:C2676485","MESH:C567327","medgen:382862"],"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":"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: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: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: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":"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":"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":"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: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: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: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: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: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":"MONDO:0012940","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 24","equivalent_identifiers":["MONDO:0012940","DOID:0110908","OMIM:612566","UMLS:C2675509","MESH:C567252","medgen:393404"],"information_content":100.0}
{"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: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":"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":"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: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: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: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: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":"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":"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":"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: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: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: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: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":"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":"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":"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":"MONDO:0013002","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cone-rod dystrophy 9","equivalent_identifiers":["MONDO:0013002","DOID:0111020","OMIM:612775","UMLS:C1423873","medgen:244692"],"information_content":100.0}
{"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":"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: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: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: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:0013012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inflammatory bowel disease 27","equivalent_identifiers":["MONDO:0013012","DOID:0110902","OMIM:612796","UMLS:C2748550","MESH:C567559","medgen:412579"],"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: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: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: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":"MONDO:0013026","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subepithelial mucinous corneal dystrophy","equivalent_identifiers":["MONDO:0013026","DOID:0060454","OMIM:612867","orphanet:98959","UMLS:C2748503","MESH:C567547","SNOMEDCT:723582004","medgen:411595","icd11.foundation:943706174"],"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:0013029","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spinocerebellar ataxia 9","equivalent_identifiers":["MONDO:0013029","DOID:0111747","OMIM:612876","UMLS:C3887996","medgen:854704"],"information_content":100.0}
{"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":"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":"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":"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":"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:0013080","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary biliary cholangitis 3","equivalent_identifiers":["MONDO:0013080","DOID:0070360","OMIM:613008","UMLS:C2751695","MESH:C567816","medgen:414443"],"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: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: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: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: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: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: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":"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":"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":"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: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: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: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: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":"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: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: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: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":"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: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: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: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: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":"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: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: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: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":"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: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:0013209","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metabolic dysfunction-associated steatotic liver disease","equivalent_identifiers":["MONDO:0013209","DOID:0080208","EFO:0003095","EFO:1001248","UMLS:C0400966","MESH:D065626","MEDDRA:10029530","MEDDRA:10082249","NCIT:C84444","SNOMEDCT:1231824009","SNOMEDCT:197315008","medgen:96033"],"information_content":90.9}
{"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: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: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: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: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":"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: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":"MONDO:0013229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hot water reflex epilepsy","equivalent_identifiers":["MONDO:0013229","DOID:0081104","OMIM.PS:613339","orphanet:166412","UMLS:C0393729","UMLS:C4706506","SNOMEDCT:230454005","SNOMEDCT:763534009","medgen:1631373"],"information_content":92.8}
{"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: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: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: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: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: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: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: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: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: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: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: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":"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":"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: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: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: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":"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: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: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: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: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: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: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: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: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:0013312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"retinitis pigmentosa 55","equivalent_identifiers":["MONDO:0013312","DOID:0110370","OMIM:613575","UMLS:C3150808","medgen:462158"],"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: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":"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: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: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: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: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":"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":"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: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":"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: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: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: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: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":"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":"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":"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: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}
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{"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: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: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: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":"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":"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":"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":"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: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: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: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":"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: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: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: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: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: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: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":"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":"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: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: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: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":"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: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: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: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: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: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":"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":"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":"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: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: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: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: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: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: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":"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":"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: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: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: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: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":"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":"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: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: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: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: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: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: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":"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: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":"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":"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: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: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: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":"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":"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":"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:0013597","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"platelet-type bleeding disorder 14","equivalent_identifiers":["MONDO:0013597","DOID:0111047","OMIM:614158","UMLS:C0398635","MESH:C562866","SNOMEDCT:234477002","medgen:98307"],"information_content":100.0}
{"id":"MONDO:0013598","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myostatin-related muscle hypertrophy","equivalent_identifiers":["MONDO:0013598","DOID:0111072","OMIM:614160","UMLS:C2931112","MESH:C536106","SNOMEDCT:699185005","medgen:418994"],"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":"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":"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: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: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: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: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: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: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: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:0013636","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary biliary cholangitis 4","equivalent_identifiers":["MONDO:0013636","DOID:0070361","OMIM:614220","UMLS:C3280201","medgen:481831"],"information_content":100.0}
{"id":"MONDO:0013637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary biliary cholangitis 5","equivalent_identifiers":["MONDO:0013637","DOID:0070362","OMIM:614221","UMLS:C3280202","medgen:481832"],"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: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: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: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:0013662","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Barrett esophagus","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: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: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":"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":"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":"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: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":"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: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: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":"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":"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":"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: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":"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":"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: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: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":"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: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: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: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: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: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":"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: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":"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: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":"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: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: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: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: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: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":"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: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: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: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":"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: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: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: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: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: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: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":"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: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":"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":"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: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: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: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: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: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":"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":"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: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":"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: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: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":"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: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: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: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":"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: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: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: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: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":"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: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":"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: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: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: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":"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":"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: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":"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: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: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":"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: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: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":"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: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":"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":"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: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":"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: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: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: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":"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: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: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: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":"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":"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: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":"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: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":"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: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: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: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: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":"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":"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":"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: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: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: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: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: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":"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":"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: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":"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}
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{"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}
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{"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: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: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}
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{"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}
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{"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: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:0014137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"precocious puberty, central, 2","equivalent_identifiers":["MONDO:0014137","DOID:0112309","OMIM:615346","UMLS:C3809199","MESH:C000726751","medgen:815529"],"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: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":"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":"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: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: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: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: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: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}
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{"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}
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{"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}
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{"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":"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":"MONDO:0014234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"reticulate acropigmentation of Kitamura","equivalent_identifiers":["MONDO:0014234","DOID:0060258","OMIM:615537","orphanet:178307","UMLS:C0406811","SNOMEDCT:239133004","medgen:98363"],"information_content":100.0}
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{"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}
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{"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: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: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: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: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}
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{"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}
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{"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: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}
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{"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}
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{"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}
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{"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}
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{"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}
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{"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:0014428","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive nonsyndromic hearing loss 102","equivalent_identifiers":["MONDO:0014428","DOID:0110463","OMIM:615974","UMLS:C3892050","medgen:856149"],"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}
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{"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}
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{"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: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}
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{"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}
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{"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":"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: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: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: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: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}
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{"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":"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: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: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: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: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: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}
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{"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: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}
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{"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":"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: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":"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":"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":"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":"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":"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":"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: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":"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: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: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: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: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: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}
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{"id":"MONDO:0014597","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunodeficiency 39","equivalent_identifiers":["MONDO:0014597","DOID:0111969","OMIM:616345","orphanet:574918","UMLS:C4225358","SNOMEDCT:1269234000","medgen:904167"],"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: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: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: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":"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: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: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":"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}
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{"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}
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{"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: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: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":"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: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":"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}
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{"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}
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{"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}
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{"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}
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{"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}
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{"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}
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{"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}
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{"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: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: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: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: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: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: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: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: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: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: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":"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: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":"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: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":"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: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":"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: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: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: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: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: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: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: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: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: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: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: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: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":"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":"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":"MONDO:0015148","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lissencephaly 3","equivalent_identifiers":["MONDO:0015148","DOID:0112232","orphanet:102011","UMLS:C1969029","SNOMEDCT:1003444000","medgen:369910","icd11.foundation:1533765623"],"information_content":86.3}
{"id":"MONDO:0015168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arthrogryposis multiplex congenita","equivalent_identifiers":["MONDO:0015168","DOID:0080954","OMIM.PS:617468","orphanet:1037","UMLS:C5779613","MEDDRA:10051643","SNOMEDCT:205402004","medgen:1830310","icd11.foundation:1930990330"],"information_content":76.2}
{"id":"MONDO:0015175","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune pancreatitis","equivalent_identifiers":["MONDO:0015175","DOID:0040091","orphanet:103919","UMLS:C2609129","MESH:D000081012","MEDDRA:10069002","SNOMEDCT:448542008","medgen:750633","icd11.foundation:2057951941"],"information_content":92.8}
{"id":"MONDO:0015183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"short bowel syndrome","equivalent_identifiers":["MONDO:0015183","DOID:10605","orphanet:104008","UMLS:C0036992","MESH:D012778","MEDDRA:10049416","NCIT:C99059","SNOMEDCT:235724004","SNOMEDCT:26629001","medgen:19966","icd11.foundation:780637678"],"information_content":95.4}
{"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:0015200","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anisakiasis","equivalent_identifiers":["MONDO:0015200","DOID:7033","orphanet:1070","EFO:0007146","UMLS:C0162576","MESH:D017129","MEDDRA:10002533","MEDDRA:10020007","NCIT:C128393","SNOMEDCT:442652006","medgen:102418","icd11.foundation:2005274000","ICD10:B81.0","ICD9:127.1"],"information_content":100.0}
{"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":"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: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: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":"MONDO:0015254","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"schistosomiasis","equivalent_identifiers":["MONDO:0015254","DOID:1395","orphanet:1247","EFO:1001475","UMLS:C0029827","UMLS:C0036323","MESH:D012552","MEDDRA:10039603","MEDDRA:10039604","MEDDRA:10046149","NCIT:C35000","SNOMEDCT:10087007","SNOMEDCT:105661001","medgen:48573","icd11.foundation:1194562592","ICD9:120.8"],"information_content":84.2}
{"id":"MONDO:0015260","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diphyllobothriasis","equivalent_identifiers":["MONDO:0015260","DOID:10075","orphanet:128","EFO:0007238","UMLS:C0012561","MESH:D004169","MEDDRA:10013029","MEDDRA:10013030","MEDDRA:10016710","NCIT:C128391","SNOMEDCT:187151009","SNOMEDCT:359799003","medgen:3858","icd11.foundation:1679215344","ICD10:B70.0","ICD9:123.4"],"information_content":100.0}
{"id":"MONDO:0015262","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"brachyolmia","equivalent_identifiers":["MONDO:0015262","DOID:0050690","orphanet:1293","UMLS:C0432228","MESH:C537098","MEDDRA:10081832","SNOMEDCT:254088006","medgen:96584","icd11.foundation:1255949169"],"information_content":88.2}
{"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":"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: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: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":"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: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: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:0015286","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital disorder of glycosylation","equivalent_identifiers":["MONDO:0015286","DOID:5212","orphanet:137","UMLS:C0282577","MESH:D018981","MEDDRA:10075892","NCIT:C84615","SNOMEDCT:238049009","medgen:76469"],"information_content":65.8}
{"id":"MONDO:0015301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary cutaneous amyloidosis","equivalent_identifiers":["MONDO:0015301","DOID:0050639","orphanet:137807","UMLS:C0268397","MESH:C562642","NCIT:C199391","SNOMEDCT:282834007","SNOMEDCT:733729003","medgen:120635"],"information_content":85.5}
{"id":"MONDO:0015306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Necrobacillosis","equivalent_identifiers":["MONDO:0015306","DOID:11337","orphanet:137839","UMLS:C0016879","UMLS:C0027537","UMLS:C0343525","MESH:D005674","MESH:D057831","MEDDRA:10017564","MEDDRA:10028846","MEDDRA:10054223","MEDDRA:10065552","NCIT:C84722","SNOMEDCT:1231140009","SNOMEDCT:52542005","medgen:6541","ICD9:040.3"],"information_content":100.0}
{"id":"MONDO:0015333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progeroid syndrome","equivalent_identifiers":["MONDO:0015333","DOID:0081332","orphanet:139033","UMLS:C5848146","medgen:1864204"],"information_content":79.3}
{"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:0015352","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal hereditary motor neuropathy type 2","equivalent_identifiers":["MONDO:0015352","DOID:0111206","orphanet:139525","UMLS:C3711384","MESH:C580044","medgen:777992","icd11.foundation:152961055"],"information_content":89.4}
{"id":"MONDO:0015355","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal hereditary motor neuropathy type 7","equivalent_identifiers":["MONDO:0015355","DOID:0111199","orphanet:139589","UMLS:C4749653","SNOMEDCT:771081007","medgen:1662655","icd11.foundation:80361835"],"information_content":92.8}
{"id":"MONDO:0015364","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary sensory and autonomic neuropathy","equivalent_identifiers":["MONDO:0015364","DOID:0050548","OMIM.PS:162400","orphanet:140471","UMLS:C0027889","UMLS:C0699739","MESH:D009477","MEDDRA:10019901","MEDDRA:10040037","MEDDRA:10091083","NCIT:C125386","SNOMEDCT:11442006","SNOMEDCT:128205005","medgen:14355","icd11.foundation:1091217288"],"information_content":78.3}
{"id":"MONDO:0015375","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofaciodigital syndrome","equivalent_identifiers":["MONDO:0015375","DOID:4501","OMIM.PS:311200","orphanet:140997","UMLS:C0029294","MESH:D009958","SNOMEDCT:52868006","medgen:14518","icd11.foundation:1405407847"],"information_content":80.2}
{"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":"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:0015408","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse lymphatic malformation","equivalent_identifiers":["MONDO:0015408","DOID:0081031","orphanet:141209","UMLS:C3839921","SNOMEDCT:703298001","medgen:825766"],"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":"MONDO:0015448","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex III deficiency","equivalent_identifiers":["MONDO:0015448","DOID:0111139","orphanet:1460","UMLS:C1852372","SNOMEDCT:709414007","medgen:377658"],"information_content":82.6}
{"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: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:0015454","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple carboxylase deficiency","equivalent_identifiers":["MONDO:0015454","DOID:857","orphanet:148","UMLS:C0026755","MESH:D009100","MEDDRA:10028176","SNOMEDCT:1172966001","medgen:10119","icd11.foundation:1133091451","ICD10:D81.81"],"information_content":92.8}
{"id":"MONDO:0015459","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nasopharyngeal carcinoma","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: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: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:0015474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cryptosporidiosis","equivalent_identifiers":["MONDO:0015474","DOID:1733","UMLS:C0010418","UMLS:C0520796","MESH:D003457","MEDDRA:10011499","MEDDRA:10011500","MEDDRA:10011501","MEDDRA:10011502","MEDDRA:10017899","NCIT:C128408","NCIT:C35591","SNOMEDCT:240370009","SNOMEDCT:58777003","SNOMEDCT:66160001","medgen:41362","icd11.foundation:1837013982","ICD10:A07.2","ICD9:007.4"],"information_content":95.4}
{"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":"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":"MONDO:0015487","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fatal infantile encephalocardiomyopathy","equivalent_identifiers":["MONDO:0015487","DOID:0050713","orphanet:1561","UMLS:C4273730","SNOMEDCT:718124006","medgen:903874"],"information_content":89.4}
{"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: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: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:0015531","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"non-Langerhans cell histiocytosis","equivalent_identifiers":["MONDO:0015531","DOID:4330","orphanet:157987","UMLS:C0019624","MESH:D015616","SNOMEDCT:127069007","medgen:9265"],"information_content":77.3}
{"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":"MONDO:0015540","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hemophagocytic syndrome","equivalent_identifiers":["MONDO:0015540","DOID:0050120","orphanet:158032","UMLS:C0024291","UMLS:C3887558","MESH:D051359","MEDDRA:10058125","MEDDRA:10058139","MEDDRA:10071580","MEDDRA:10071583","NCIT:C34792","SNOMEDCT:234437005","medgen:854411","ICD10:D76.1"],"information_content":79.6}
{"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:0015588","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"limbic encephalitis","equivalent_identifiers":["MONDO:0015588","DOID:0080741","UMLS:C0338430","MESH:D020363","MEDDRA:10078012","MEDDRA:10078013","SNOMEDCT:230192003","medgen:137895"],"information_content":86.3}
{"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: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":"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":"MONDO:0015611","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neutral lipid storage disease","equivalent_identifiers":["MONDO:0015611","DOID:0050729","orphanet:165","UMLS:C5848057","medgen:1853293","icd11.foundation:621440298"],"information_content":90.9}
{"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: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: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":"MONDO:0015626","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease","equivalent_identifiers":["MONDO:0015626","DOID:10595","OMIM.PS:118220","orphanet:166","UMLS:C0007959","MESH:D002607","MEDDRA:10008414","MEDDRA:10034699","NCIT:C75467","medgen:2980","ICD9:356.1"],"information_content":69.4}
{"id":"MONDO:0015643","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"photosensitive epilepsy","equivalent_identifiers":["MONDO:0015643","DOID:0060281","OMIM.PS:132100","orphanet:166409","UMLS:C0393720","UMLS:C0393721","SNOMEDCT:95208000","medgen:98285","icd11.foundation:946957931","ICD10:G40.8"],"information_content":89.4}
{"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: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":"MONDO:0015688","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2","equivalent_identifiers":["MONDO:0015688","DOID:0080164","orphanet:168943","UMLS:C2827356","NCIT:C84270","medgen:417664"],"information_content":79.9}
{"id":"MONDO:0015689","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloid neoplasm associated with PDGFRA rearrangement","equivalent_identifiers":["MONDO:0015689","DOID:0080165","orphanet:168947","UMLS:C2827360","UMLS:C4545381","NCIT:C84275","SNOMEDCT:450940003","SNOMEDCT:738527001","medgen:1620600","icd11.foundation:833355630"],"information_content":89.4}
{"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":"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":"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: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:0015722","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital vitamin K-dependent coagulation factors deficiency","equivalent_identifiers":["MONDO:0015722","DOID:0112172","OMIM.PS:277450","orphanet:169826","orphanet:98434","UMLS:C4510617","medgen:1378036","icd11.foundation:54644599"],"information_content":88.2}
{"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":"MONDO:0015748","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary mucosal leukokeratosis","equivalent_identifiers":["MONDO:0015748","DOID:0050448","OMIM.PS:193900","orphanet:171723","UMLS:C1721005","MESH:D053529","MEDDRA:10072666","MEDDRA:10072678","NCIT:C84760","SNOMEDCT:389203001","medgen:328433"],"information_content":92.8}
{"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: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":"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: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:0015797","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"UV-sensitive syndrome","equivalent_identifiers":["MONDO:0015797","DOID:0060240","OMIM.PS:600630","orphanet:178338","UMLS:C1833561","MESH:C563466","SNOMEDCT:698253007","medgen:322222"],"information_content":90.9}
{"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: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: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:0015864","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mixed germ cell tumor","equivalent_identifiers":["MONDO:0015864","DOID:3306","orphanet:180234","UMLS:C0334524","NCIT:C4290","SNOMEDCT:1156452003","SNOMEDCT:32844007","medgen:87257"],"information_content":76.4}
{"id":"MONDO:0015867","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vaginal carcinoma","equivalent_identifiers":["MONDO:0015867","DOID:0050918","orphanet:180247","UMLS:C0262659","NCIT:C3917","SNOMEDCT:254893005","medgen:82653"],"information_content":72.7}
{"id":"MONDO:0015871","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign breast phyllodes tumor","equivalent_identifiers":["MONDO:0015871","DOID:1631","orphanet:180261","UMLS:C1332533","NCIT:C5196","SNOMEDCT:720344007","medgen:231438","icd11.foundation:827143668","ICD10:D48.6"],"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":"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":"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":"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: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: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":"MONDO:0015991","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"citrullinemia","equivalent_identifiers":["MONDO:0015991","DOID:9273","OMIM.PS:215700","orphanet:187","UMLS:C0175683","MESH:D020159","MEDDRA:10058298","MEDDRA:10058302","MEDDRA:10058303","NCIT:C84639","SNOMEDCT:124711003","medgen:104491","icd11.foundation:640937125","ICD10:E72.23"],"information_content":86.3}
{"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: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:0015999","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary pigmented nodular adrenocortical disease","equivalent_identifiers":["MONDO:0015999","DOID:0060280","OMIM.PS:610489","UMLS:C4304832","UMLS:C4331029","NCIT:C131196","SNOMEDCT:719274008","medgen:930501","icd11.foundation:2003695246"],"information_content":88.2}
{"id":"MONDO:0016001","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"2-hydroxyglutaric aciduria","equivalent_identifiers":["MONDO:0016001","DOID:0050573","orphanet:19","UMLS:C2746066","MESH:C535306","MEDDRA:10078971","NCIT:C128187","SNOMEDCT:698870008","medgen:412535"],"information_content":88.2}
{"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":"MONDO:0016003","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ehrlichiosis","equivalent_identifiers":["MONDO:0016003","DOID:10242","orphanet:1902","UMLS:C0085399","UMLS:C0343771","MESH:D016873","MEDDRA:10020429","SNOMEDCT:240626005","medgen:39039","icd11.foundation:1116297863","ICD10:A77.4","ICD9:082.4"],"information_content":95.4}
{"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":"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: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":"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":"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: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":"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":"MONDO:0016047","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"endophthalmitis","equivalent_identifiers":["MONDO:0016047","DOID:4692","orphanet:199323","UMLS:C0014236","MESH:D009877","MEDDRA:10014801","MEDDRA:10030869","NCIT:C34586","SNOMEDCT:128295000","SNOMEDCT:1847009","medgen:8633","icd11.foundation:1211141166"],"information_content":78.8}
{"id":"MONDO:0016052","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"atypical autism","equivalent_identifiers":["MONDO:0016052","DOID:0060042","orphanet:199627","EFO:0003759","UMLS:C0338986","MEDDRA:10003747","SNOMEDCT:231536004","medgen:572882","icd11.foundation:2136163538","ICD10:F84"],"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: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":"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":"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:0016075","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"filariasis","equivalent_identifiers":["MONDO:0016075","DOID:1080","orphanet:2034","UMLS:C0016085","MESH:D005368","MEDDRA:10016674","MEDDRA:10045874","MEDDRA:10076405","NCIT:C34611","SNOMEDCT:105706003","medgen:4706","icd11.foundation:1975325075","ICD10:B74","ICD9:125.9"],"information_content":84.2}
{"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: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: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: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: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: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: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":"MONDO:0016218","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Guillain-Barre syndrome","equivalent_identifiers":["MONDO:0016218","DOID:12842","orphanet:2103","EFO:0007292","UMLS:C0018378","UMLS:C3542501","MESH:D020275","MEDDRA:10000813","MEDDRA:10018766","MEDDRA:10018767","MEDDRA:10033803","MEDDRA:10042812","NCIT:C116345","NCIT:C26790","SNOMEDCT:129131007","SNOMEDCT:193174005","SNOMEDCT:40956001","medgen:5399","ICD10:G61.0"],"information_content":83.6}
{"id":"MONDO:0016222","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spindle cell hemangioma","equivalent_identifiers":["MONDO:0016222","DOID:496","orphanet:210584","UMLS:C1304508","NCIT:C4754","SNOMEDCT:128769003","SNOMEDCT:403967000","medgen:224916"],"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: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":"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: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":"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":"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: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":"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":"MONDO:0016295","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuronal ceroid lipofuscinosis","equivalent_identifiers":["MONDO:0016295","DOID:14503","OMIM.PS:256730","orphanet:216","UMLS:C0027877","MESH:D009472","MEDDRA:10052074","MEDDRA:10074607","NCIT:C61257","SNOMEDCT:42012007","medgen:10326","icd11.foundation:1568332253"],"information_content":79.9}
{"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":"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":"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: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":"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":"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: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: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:0016391","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neonatal diabetes mellitus","equivalent_identifiers":["MONDO:0016391","DOID:11717","orphanet:224","UMLS:C0158981","MEDDRA:10028933","NCIT:C99248","SNOMEDCT:49817004","medgen:57645","icd11.foundation:1217915084","ICD9:775.1"],"information_content":81.7}
{"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":"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":"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":"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":"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":"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":"MONDO:0016483","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intracranial berry aneurysm","equivalent_identifiers":["MONDO:0016483","DOID:0060228","OMIM.PS:105800","orphanet:231160","UMLS:C3839866","SNOMEDCT:703226008","medgen:825711","icd11.foundation:59881644"],"information_content":83.1}
{"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: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:0016516","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kenny-Caffey syndrome","equivalent_identifiers":["MONDO:0016516","DOID:0080724","OMIM.PS:127000","orphanet:2333","UMLS:C0265291","MESH:C537020","MEDDRA:10073228","NCIT:C130991","SNOMEDCT:82837002","medgen:75560"],"information_content":92.8}
{"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":"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":"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":"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:0016566","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"loiasis","equivalent_identifiers":["MONDO:0016566","DOID:13523","orphanet:2404","EFO:1000729","UMLS:C0023968","MESH:D008118","MEDDRA:10024736","MEDDRA:10024797","NCIT:C34784","SNOMEDCT:44250009","medgen:6132","icd11.foundation:709184369","ICD10:B74.3","ICD9:125.2"],"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: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: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: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":"MONDO:0016586","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"systemic mastocytosis","equivalent_identifiers":["MONDO:0016586","DOID:349","orphanet:2467","UMLS:C0221013","MESH:D034721","MEDDRA:10042949","NCIT:C9235","SNOMEDCT:1255137009","SNOMEDCT:397016004","medgen:67436","icd11.foundation:1144812971","ICD10:D47.02"],"information_content":80.6}
{"id":"MONDO:0016587","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"arrhythmogenic right ventricular cardiomyopathy","equivalent_identifiers":["MONDO:0016587","DOID:0050431","orphanet:247","UMLS:C0349788","MESH:D019571","MEDDRA:10058093","MEDDRA:10087108","NCIT:C84571","SNOMEDCT:253528005","SNOMEDCT:281170005","medgen:87618"],"information_content":80.6}
{"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: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: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:0016612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked cerebellar ataxia","equivalent_identifiers":["MONDO:0016612","DOID:0050953","DOID:0111828","orphanet:247765"],"information_content":84.8}
{"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: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":"MONDO:0016643","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"frontonasal dysplasia","equivalent_identifiers":["MONDO:0016643","DOID:0081044","OMIM.PS:136760","orphanet:250","UMLS:C1876203","MESH:C538065","MEDDRA:10089384","SNOMEDCT:86610004","medgen:406292","icd11.foundation:782645776"],"information_content":83.6}
{"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: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":"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: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:0016684","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anaplastic astrocytoma","equivalent_identifiers":["MONDO:0016684","DOID:3078","orphanet:251589","EFO:0002499","UMLS:C0334579","MEDDRA:10002224","MEDDRA:10003572","MEDDRA:10060971","NCIT:C129292","NCIT:C9477","SNOMEDCT:55353007","medgen:137784"],"information_content":78.0}
{"id":"MONDO:0016686","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse astrocytoma","equivalent_identifiers":["MONDO:0016686","DOID:4857","orphanet:251595","UMLS:C0280785","NCIT:C129277","NCIT:C7173","SNOMEDCT:397381007","medgen:83708"],"information_content":78.3}
{"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: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: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: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: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: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:0016700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anaplastic ependymoma","equivalent_identifiers":["MONDO:0016700","DOID:5074","DOID:5889","orphanet:251646","UMLS:C0280788","MEDDRA:10002226","MEDDRA:10014968","NCIT:C4049","SNOMEDCT:1156903009","medgen:128891"],"information_content":85.5}
{"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":"MONDO:0016707","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"astroblastoma","equivalent_identifiers":["MONDO:0016707","DOID:7305","orphanet:251679","UMLS:C0334587","MEDDRA:10079366","NCIT:C4324","SNOMEDCT:48952003","medgen:90811","icd11.foundation:2011571705","icd11.foundation:96344074"],"information_content":88.2}
{"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: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":"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: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":"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":"MONDO:0016733","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ganglioglioma","equivalent_identifiers":["MONDO:0016733","DOID:5078","orphanet:251949","EFO:0003094","UMLS:C0206716","UMLS:C1332202","UMLS:C1332969","MESH:D018303","MEDDRA:10017701","NCIT:C27362","NCIT:C27363","NCIT:C3788","SNOMEDCT:1162662003","SNOMEDCT:87191000119100","medgen:60216","icd11.foundation:1287417975","HP:0033664"],"information_content":92.8}
{"id":"MONDO:0016735","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"papillary glioneuronal tumor","equivalent_identifiers":["MONDO:0016735","DOID:0081283","orphanet:251962","UMLS:C2985174","NCIT:C92554","SNOMEDCT:450902001","medgen:457400"],"information_content":92.8}
{"id":"MONDO:0016736","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rosette-forming glioneuronal tumor of fourth ventricule","equivalent_identifiers":["MONDO:0016736","DOID:0081284","orphanet:251975","UMLS:C2347979","UMLS:C4331262","NCIT:C129431","NCIT:C67559","SNOMEDCT:733906003","SNOMEDCT:770682007","medgen:1377578","HP:0025171"],"information_content":95.4}
{"id":"MONDO:0016746","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"meningeal melanocytoma","equivalent_identifiers":["MONDO:0016746","DOID:5900","orphanet:252046","EFO:1000370","UMLS:C1266113","NCIT:C4662","SNOMEDCT:128730009","SNOMEDCT:277527003","medgen:226842"],"information_content":100.0}
{"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":"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":"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: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:0016763","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondylometaphyseal dysplasia","equivalent_identifiers":["MONDO:0016763","DOID:0112295","OMIM.PS:184255","orphanet:254","UMLS:C4759767","SNOMEDCT:784006008","medgen:1674850","icd11.foundation:181781948"],"information_content":79.6}
{"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:0016787","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epithelioid trophoblastic tumor","equivalent_identifiers":["MONDO:0016787","DOID:3593","orphanet:254698","UMLS:C1266159","NCIT:C6900","SNOMEDCT:128767001","SNOMEDCT:609515005","medgen:266107"],"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: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: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: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":"MONDO:0016955","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"partial duplication of the long arm of chromosome 4","equivalent_identifiers":["MONDO:0016955","DOID:0111159","orphanet:262860","UMLS:C0795812","MESH:C537644","medgen:162874","icd11.foundation:959729903"],"information_content":92.8}
{"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: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:0016987","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuroacanthocytosis","equivalent_identifiers":["MONDO:0016987","DOID:0050765","orphanet:263440","MESH:D054546","NCIT:C84926","icd11.foundation:1012724153"],"information_content":87.2}
{"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":"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:0017043","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital mesoblastic nephroma","equivalent_identifiers":["MONDO:0017043","DOID:4773","orphanet:2665","UMLS:C1332965","NCIT:C6569","medgen:232058","icd11.foundation:2001572901","HP:0100881"],"information_content":87.2}
{"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":"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":"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":"MONDO:0017124","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"noma","equivalent_identifiers":["MONDO:0017124","DOID:9672","orphanet:2700","EFO:1001063","UMLS:C0028271","MESH:D009625","MEDDRA:10007131","MEDDRA:10029502","NCIT:C34852","SNOMEDCT:18116006","medgen:10366","icd11.foundation:340823130","ICD10:A69.0","ICD9:528.1"],"information_content":100.0}
{"id":"MONDO:0017136","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"omodysplasia","equivalent_identifiers":["MONDO:0017136","DOID:0060288","OMIM.PS:258315","orphanet:2733","UMLS:C4510897","SNOMEDCT:725164008","medgen:1388973","icd11.foundation:1081897527"],"information_content":92.8}
{"id":"MONDO:0017137","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"onchocerciasis","equivalent_identifiers":["MONDO:0017137","DOID:11678","orphanet:2737","EFO:0007402","UMLS:C0029001","MESH:D009855","MEDDRA:10030313","MEDDRA:10030314","NCIT:C34861","SNOMEDCT:38539003","medgen:14477","icd11.foundation:106136071","ICD10:B73","ICD9:125.3"],"information_content":95.4}
{"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":"MONDO:0017169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple endocrine neoplasia","equivalent_identifiers":["MONDO:0017169","DOID:3125","UMLS:C0027662","UMLS:C0311355","MESH:D009377","MEDDRA:10028189","MEDDRA:10028193","MEDDRA:10028196","MEDDRA:10036071","MEDDRA:10051747","MEDDRA:10061299","NCIT:C6432","SNOMEDCT:46724008","SNOMEDCT:60549007"],"information_content":79.3}
{"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":"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":"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: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":"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: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":"MONDO:0017236","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rapidly progressive glomerulonephritis","equivalent_identifiers":["MONDO:0017236","DOID:4776","UMLS:C0221239","MEDDRA:10018378","NCIT:C35264","SNOMEDCT:236392004","medgen:113155","ICD10:N01"],"information_content":95.4}
{"id":"MONDO:0017265","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal recessive congenital ichthyosis","equivalent_identifiers":["MONDO:0017265","DOID:0060655","OMIM.PS:242300","orphanet:281097","UMLS:C1274215","SNOMEDCT:402772005","medgen:697564","icd11.foundation:430849255","ICD10:Q80.2"],"information_content":79.0}
{"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":"MONDO:0017278","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune polyendocrinopathy","equivalent_identifiers":["MONDO:0017278","DOID:14040","orphanet:282196","UMLS:C0085409","UMLS:C4316913","MESH:D016884","NCIT:C129726","NCIT:C84576","SNOMEDCT:41864002","medgen:39042","icd11.foundation:548357900"],"information_content":89.4}
{"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":"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":"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":"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":"MONDO:0017338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"fatal multiple mitochondrial dysfunctions syndrome","equivalent_identifiers":["MONDO:0017338","DOID:0070330","OMIM.PS:605711","orphanet:289573","UMLS:C3502075","MESH:C565304","SNOMEDCT:720827002","medgen:502474"],"information_content":84.8}
{"id":"MONDO:0017347","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"plasmablastic lymphoma","equivalent_identifiers":["MONDO:0017347","DOID:0080779","orphanet:289666","UMLS:C3472614","MESH:D000069293","MEDDRA:10065039","NCIT:C7224","SNOMEDCT:450909005","SNOMEDCT:724648008","medgen:483338","icd11.foundation:803046659"],"information_content":84.8}
{"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: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":"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: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: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: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}
{"id":"MONDO:0017402","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial isolated arrhythmogenic ventricular dysplasia, biventricular form","equivalent_identifiers":["MONDO:0017402","DOID:0070535","orphanet:293899","UMLS:C5925016","medgen:1864265"],"information_content":100.0}
{"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:0017415","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple pterygium syndrome","equivalent_identifiers":["MONDO:0017415","DOID:0080110","orphanet:294060","UMLS:C5848053","MESH:C537377","SNOMEDCT:205819008","medgen:1852087","icd11.foundation:834369371"],"information_content":86.3}
{"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: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":"MONDO:0017435","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"popliteal pterygium syndrome","equivalent_identifiers":["MONDO:0017435","DOID:0060055","orphanet:294963","UMLS:C0265259","MESH:C562509","MEDDRA:10079892","NCIT:C118786","SNOMEDCT:66783006","medgen:78543","icd11.foundation:543218573"],"information_content":90.9}
{"id":"MONDO:0017436","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lethal congenital contracture syndrome","equivalent_identifiers":["MONDO:0017436","DOID:0060558","OMIM.PS:253310","orphanet:294965","UMLS:C5848326","medgen:1863860","icd11.foundation:1866017256","ICD10:Q68.8"],"information_content":83.6}
{"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: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: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":"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":"MONDO:0017596","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse large B-cell lymphoma of the central nervous system","equivalent_identifiers":["MONDO:0017596","DOID:0081313","orphanet:300849","UMLS:C2026186","NCIT:C71720","SNOMEDCT:734066005","medgen:378339","icd11.foundation:1029172881"],"information_content":84.8}
{"id":"MONDO:0017600","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"HCL-V","equivalent_identifiers":["MONDO:0017600","DOID:713","orphanet:300878","UMLS:C0349633","MEDDRA:10019054","MEDDRA:10019056","NCIT:C7401","SNOMEDCT:1187193000","SNOMEDCT:277568007","medgen:91160"],"information_content":92.8}
{"id":"MONDO:0017604","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"marginal zone lymphoma","equivalent_identifiers":["MONDO:0017604","DOID:0050748","orphanet:300912","EFO:1000630","UMLS:C1367654","MEDDRA:10076596","NCIT:C4341","SNOMEDCT:447100004","medgen:277950"],"information_content":73.0}
{"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":"MONDO:0017610","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidermolysis bullosa simplex","equivalent_identifiers":["MONDO:0017610","DOID:4644","OMIM.PS:131760","orphanet:304","UMLS:C0079298","MESH:D016110","MEDDRA:10087382","NCIT:C84692","SNOMEDCT:67144006","medgen:86896","icd11.foundation:1860717527"],"information_content":79.0}
{"id":"MONDO:0017612","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"junctional epidermolysis bullosa","equivalent_identifiers":["MONDO:0017612","DOID:3209","OMIM.PS:226650","orphanet:305","UMLS:C0079301","MESH:D016109","MEDDRA:10087384","NCIT:C90598","SNOMEDCT:399971009","SNOMEDCT:79855003","medgen:86898","icd11.foundation:1501260457"],"information_content":80.9}
{"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":"MONDO:0017623","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"PTEN hamartoma tumor syndrome","equivalent_identifiers":["MONDO:0017623","DOID:0080191","orphanet:306498","UMLS:C1959582","NCIT:C179915","SNOMEDCT:722859001","medgen:368366"],"information_content":83.6}
{"id":"MONDO:0017719","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gangliosidosis","equivalent_identifiers":["MONDO:0017719","DOID:2368","orphanet:309144","UMLS:C0017083","MESH:D005733","NCIT:C195514","SNOMEDCT:50967008","medgen:42149","icd11.foundation:797306953","ICD10:E75.10"],"information_content":81.7}
{"id":"MONDO:0017720","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"GM2 gangliosidosis","equivalent_identifiers":["MONDO:0017720","DOID:3321","orphanet:309152","UMLS:C0268274","MESH:D020143","MEDDRA:10083933","NCIT:C197908","SNOMEDCT:33316007","medgen:78656","icd11.foundation:1513691830","ICD10:E75.0"],"information_content":84.2}
{"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:0017768","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"reflex epilepsy","equivalent_identifiers":["MONDO:0017768","DOID:2548","orphanet:310","EFO:1001146","UMLS:C0270857","MESH:D020195","NCIT:C85041","SNOMEDCT:79745005","medgen:75726","icd11.foundation:276807111"],"information_content":79.9}
{"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":"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: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: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: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:0017795","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ameloblastoma","equivalent_identifiers":["MONDO:0017795","DOID:0050894","orphanet:314419","UMLS:C0002448","UMLS:C0563212","MESH:D000564","MEDDRA:10066796","NCIT:C4313","SNOMEDCT:20462008","SNOMEDCT:285311001","medgen:1457","HP:0034515"],"information_content":81.3}
{"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":"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: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":"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":"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: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":"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: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:0017874","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Argentine hemorrhagic fever","equivalent_identifiers":["MONDO:0017874","DOID:0050194","orphanet:319223","UMLS:C0019097","MEDDRA:10003090","MEDDRA:10023247","MEDDRA:10055229","MEDDRA:10080470","MEDDRA:10080479","SNOMEDCT:58868000","SNOMEDCT:721778009","medgen:9211","icd11.foundation:257166193"],"information_content":100.0}
{"id":"MONDO:0017875","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Bolivian hemorrhagic fever","equivalent_identifiers":["MONDO:0017875","DOID:0050195","orphanet:319229","UMLS:C0282192","MEDDRA:10005932","MEDDRA:10055233","SNOMEDCT:67247008","medgen:76386","icd11.foundation:1780467429"],"information_content":100.0}
{"id":"MONDO:0017876","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Venezuelan hemorrhagic fever","equivalent_identifiers":["MONDO:0017876","DOID:0050196","orphanet:319234","UMLS:C0042470","SNOMEDCT:359673001","medgen:508283","icd11.foundation:356743940"],"information_content":100.0}
{"id":"MONDO:0017877","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Brazilian hemorrhagic fever","equivalent_identifiers":["MONDO:0017877","DOID:0050197","orphanet:319239","UMLS:C0343633","SNOMEDCT:240524001","medgen:575736"],"information_content":100.0}
{"id":"MONDO:0017878","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chapare hemorrhagic fever","equivalent_identifiers":["MONDO:0017878","DOID:0050198","orphanet:319244","UMLS:C4274434","MESH:C000723468","SNOMEDCT:716584007","medgen:900792"],"information_content":100.0}
{"id":"MONDO:0017879","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hantavirus pulmonary syndrome","equivalent_identifiers":["MONDO:0017879","DOID:14472","orphanet:319247","EFO:0007296","UMLS:C0243025","MESH:D018804","MEDDRA:10019143","MEDDRA:10019144","MEDDRA:10056320","NCIT:C84747","SNOMEDCT:120639003","medgen:66205","icd11.foundation:582624609","ICD10:B33.4"],"information_content":100.0}
{"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:0017881","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kyasanur forest disease","equivalent_identifiers":["MONDO:0017881","DOID:11320","orphanet:319254","UMLS:C0022810","MESH:D007733","MEDDRA:10023505","SNOMEDCT:23097003","medgen:5982","icd11.foundation:1288604967","ICD10:A98.2","ICD9:065.2"],"information_content":95.4}
{"id":"MONDO:0017882","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Omsk hemorrhagic fever","equivalent_identifiers":["MONDO:0017882","DOID:992","orphanet:319266","UMLS:C0019103","MESH:D006481","MEDDRA:10030310","MEDDRA:10030311","SNOMEDCT:48113006","medgen:9212","icd11.foundation:946068954","ICD10:A98.1","ICD9:065.1"],"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: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: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":"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":"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":"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: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":"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":"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":"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":"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":"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: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: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":"MONDO:0018037","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyper-IgE syndrome","equivalent_identifiers":["MONDO:0018037","DOID:0080545","OMIM.PS:147060","orphanet:331223","UMLS:C3887645","NCIT:C3144","SNOMEDCT:191009009","medgen:854488","icd11.foundation:223461798"],"information_content":82.1}
{"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":"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":"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":"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":"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:0018076","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tuberculosis","equivalent_identifiers":["MONDO:0018076","DOID:399","orphanet:3389","UMLS:C0041296","MESH:D014376","MEDDRA:10021868","MEDDRA:10021870","MEDDRA:10043148","MEDDRA:10044755","MEDDRA:10044756","MEDDRA:10044766","NCIT:C3423","SNOMEDCT:371569005","SNOMEDCT:373576009","SNOMEDCT:56717001","medgen:22513","icd11.foundation:2072728114"],"information_content":73.2}
{"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":"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":"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: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":"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: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":"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":"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: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: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":"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: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":"MONDO:0018151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"coenzyme Q10 deficiency","equivalent_identifiers":["MONDO:0018151","DOID:0050730","OMIM.PS:607426","orphanet:35656","UMLS:C1843920","MESH:C564403","NCIT:C142083","SNOMEDCT:724575009","medgen:334528","icd11.foundation:1251664337"],"information_content":83.6}
{"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: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:0018158","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial DNA depletion syndrome","equivalent_identifiers":["MONDO:0018158","DOID:0070329","OMIM.PS:603041","orphanet:35698","UMLS:C0342782","MEDDRA:10059396","NCIT:C185235","SNOMEDCT:237995002","medgen:452449","icd11.foundation:1159345506"],"information_content":77.6}
{"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":"MONDO:0018171","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant germ cell tumor of ovary","equivalent_identifiers":["MONDO:0018171","DOID:2155","orphanet:35807","UMLS:C0346180","MESH:C562841","MEDDRA:10033222","MEDDRA:10052311","MEDDRA:10061893","NCIT:C4514","SNOMEDCT:254869000","medgen:87544"],"information_content":72.5}
{"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:0018181","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"staphylococcal scalded skin syndrome","equivalent_identifiers":["MONDO:0018181","DOID:9063","orphanet:36236","EFO:0007473","UMLS:C0038165","UMLS:C0678185","MESH:D013206","MEDDRA:10039199","MEDDRA:10039200","MEDDRA:10039515","MEDDRA:10041929","NCIT:C85077","SNOMEDCT:200946001","SNOMEDCT:277475006","medgen:52484","icd11.foundation:1554593739","ICD10:L00","ICD9:695.81"],"information_content":100.0}
{"id":"MONDO:0018190","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autosomal dominant childhood-onset proximal spinal muscular atrophy","equivalent_identifiers":["MONDO:0018190","DOID:0070348","OMIM.PS:158600","orphanet:363447","UMLS:C1834690","SNOMEDCT:772129007","medgen:322470"],"information_content":90.9}
{"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":"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: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":"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:0018233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"otopalatodigital syndrome spectrum disorder","equivalent_identifiers":["MONDO:0018233","DOID:0111782","orphanet:364541","UMLS:C2748918","MESH:C567577","MEDDRA:10084408","SNOMEDCT:784010006","medgen:411701"],"information_content":86.3}
{"id":"MONDO:0018234","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dysostosis","equivalent_identifiers":["MONDO:0018234","DOID:1934","orphanet:364559","UMLS:C0013393","MESH:D004413","MEDDRA:10051834","NCIT:C34560","SNOMEDCT:109420003","medgen:4430"],"information_content":60.3}
{"id":"MONDO:0018237","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrofacial dysostosis","equivalent_identifiers":["MONDO:0018237","DOID:0060379","orphanet:364574","UMLS:C1332140","NCIT:C35795","medgen:272278","icd11.foundation:1702160042"],"information_content":80.9}
{"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":"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":"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":"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":"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":"MONDO:0018307","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neurodegeneration with brain iron accumulation","equivalent_identifiers":["MONDO:0018307","DOID:0110734","OMIM.PS:234200","orphanet:385","UMLS:C2931845","MESH:C538421","medgen:444156","icd11.foundation:440483530"],"information_content":79.9}
{"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: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: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":"MONDO:0018327","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glomus tumor","equivalent_identifiers":["MONDO:0018327","DOID:2431","orphanet:391651","UMLS:C0017653","MESH:D005918","MEDDRA:10018380","MEDDRA:10018381","NCIT:C3060","SNOMEDCT:403969002","medgen:4903"],"information_content":79.3}
{"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: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":"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: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: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":"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: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:0018484","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"semicircular canal dehiscence syndrome","equivalent_identifiers":["MONDO:0018484","DOID:0080193","orphanet:420402","UMLS:C3275929","UMLS:C4708600","MESH:D000084322","MEDDRA:10079888","SNOMEDCT:717799003","SNOMEDCT:768933005","medgen:1642474"],"information_content":100.0}
{"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":"MONDO:0018510","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"small intestine neuroendocrine neoplasm","equivalent_identifiers":["MONDO:0018510","DOID:4434","orphanet:423975","EFO:1001928","UMLS:C1336005","UMLS:CN237515","MEDDRA:10085940","MEDDRA:10085958","NCIT:C5803","SNOMEDCT:1186805005","medgen:233453"],"information_content":73.6}
{"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:0018523","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pancreatic mucinous cystadenoma","equivalent_identifiers":["MONDO:0018523","DOID:7235","DOID:7735","orphanet:424053","UMLS:C1335309","MEDDRA:10087708","NCIT:C5718","SNOMEDCT:690751000119102","medgen:277492"],"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: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: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: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: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":"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":"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":"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":"MONDO:0018590","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ABeta2M amyloidosis","equivalent_identifiers":["MONDO:0018590","DOID:0080928","orphanet:439246","UMLS:C5680053","medgen:1842860","icd11.foundation:448754119"],"information_content":92.8}
{"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:0018626","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"paratyphoid fever","equivalent_identifiers":["MONDO:0018626","DOID:3055","orphanet:443227","EFO:0007420","UMLS:C0030528","UMLS:C0343375","UMLS:C0343376","UMLS:C0343377","MESH:D010284","MEDDRA:10033970","MEDDRA:10033971","MEDDRA:10033972","MEDDRA:10033973","MEDDRA:10033974","MEDDRA:10033975","MEDDRA:10039441","NCIT:C34894","NCIT:C34895","NCIT:C34896","NCIT:C34897","SNOMEDCT:51254007","SNOMEDCT:71085009","SNOMEDCT:76623002","SNOMEDCT:85904008","medgen:18303","icd11.foundation:1780040028","ICD10:A01.1","ICD10:A01.2","ICD10:A01.3","ICD10:A01.4","ICD9:002.1","ICD9:002.2","ICD9:002.3","ICD9:002.9"],"information_content":90.9}
{"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":"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":"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":"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:0018687","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"progressive muscular atrophy","equivalent_identifiers":["MONDO:0018687","DOID:318","orphanet:454706","UMLS:C0917981","UMLS:C4082951","MEDDRA:10036808","NCIT:C195922","NCIT:C85027","SNOMEDCT:88923002","medgen:906831","icd11.foundation:1282359533","ICD9:335.21","HP:0009067"],"information_content":95.4}
{"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":"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: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: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:0018756","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"euthyroid Graves orbitopathy","equivalent_identifiers":["MONDO:0018756","DOID:0081120","orphanet:466682","UMLS:C5680004","SNOMEDCT:1197416000","medgen:1803712"],"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:0018761","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SMARCA4-deficient sarcoma of thorax","equivalent_identifiers":["MONDO:0018761","DOID:0080532","orphanet:466962","UMLS:C5554190","MEDDRA:10086058","NCIT:C183115","medgen:1806595"],"information_content":92.8}
{"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: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:0018769","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"isosporiasis","equivalent_identifiers":["MONDO:0018769","DOID:2112","orphanet:472","EFO:0007232","UMLS:C0311386","MESH:D021865","MEDDRA:10023075","MEDDRA:10023076","NCIT:C4076","SNOMEDCT:371423007","medgen:90233","icd11.foundation:137713224","ICD10:A07.3"],"information_content":95.4}
{"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: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: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: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":"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: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":"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":"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":"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: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":"MONDO:0018841","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"BASD","equivalent_identifiers":["MONDO:0018841","DOID:0050674","OMIM.PS:607765","orphanet:485631","EFO:0009039","UMLS:C5680095","medgen:1826069","ICD10:K76.8"],"information_content":87.2}
{"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: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":"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: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: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":"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":"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: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: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":"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:0018889","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hyaline body myopathy","equivalent_identifiers":["MONDO:0018889","DOID:0111267","orphanet:53698","icd11.foundation:352828432"],"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: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":"MONDO:0018903","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"sarcocystosis","equivalent_identifiers":["MONDO:0018903","DOID:9640","orphanet:54368","EFO:0007476","UMLS:C0036231","MESH:D012523","MEDDRA:10039483","MEDDRA:10039484","MEDDRA:10039503","SNOMEDCT:88905005","medgen:48559","icd11.foundation:261748740","ICD9:136.5"],"information_content":100.0}
{"id":"MONDO:0018905","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse large B-cell lymphoma","equivalent_identifiers":["MONDO:0018905","DOID:0050745","orphanet:544","EFO:0000403","UMLS:C0079744","UMLS:C2699777","MESH:D016403","MEDDRA:10012818","MEDDRA:10012819","MEDDRA:10012820","NCIT:C80280","NCIT:C8851","SNOMEDCT:109969005","SNOMEDCT:1172695008","medgen:86954","icd11:2A81.Z","icd11.foundation:1946973604"],"information_content":64.2}
{"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":"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: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":"MONDO:0018910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oculocutaneous albinism","equivalent_identifiers":["MONDO:0018910","DOID:0050632","DOID:0090100","OMIM.PS:203100","orphanet:55","UMLS:C0078918","MESH:D016115","NCIT:C84941","SNOMEDCT:63844009","medgen:36250","icd11.foundation:1189424097","ICD10:E70.3"],"information_content":82.6}
{"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: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: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":"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: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":"MONDO:0018936","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"osteoblastoma","equivalent_identifiers":["MONDO:0018936","DOID:0060098","orphanet:58040","EFO:1000410","UMLS:C0029417","MESH:D018215","MEDDRA:10004430","NCIT:C3294","SNOMEDCT:55333008","medgen:18212","icd11.foundation:1948326341","HP:0011846"],"information_content":89.4}
{"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: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: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:0018944","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gestational trophoblastic neoplasm","equivalent_identifiers":["MONDO:0018944","DOID:3590","orphanet:59305","UMLS:C0278796","UMLS:C1135868","MEDDRA:10018211","MEDDRA:10018212","MEDDRA:10061988","NCIT:C4699","NCIT:C7887","SNOMEDCT:609517002","SNOMEDCT:609519004","medgen:210107","icd11.foundation:1972855304","ICD10:O01","ICD9:630"],"information_content":77.1}
{"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:0018947","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"centronuclear myopathy","equivalent_identifiers":["MONDO:0018947","DOID:14717","OMIM.PS:160150","orphanet:595","UMLS:C0175709","MEDDRA:10088268","SNOMEDCT:82077006","medgen:104495","icd11.foundation:742097637","ICD10:G71.22"],"information_content":84.8}
{"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:0018949","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"distal myopathy","equivalent_identifiers":["MONDO:0018949","DOID:11720","OMIM.PS:160500","orphanet:599","UMLS:C0751336","MESH:D049310","NCIT:C84675","SNOMEDCT:58795000","medgen:155541","icd11.foundation:596283352"],"information_content":77.3}
{"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":"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":"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:0018958","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nemaline myopathy","equivalent_identifiers":["MONDO:0018958","DOID:3191","OMIM.PS:161800","orphanet:607","UMLS:C0206157","MESH:D017696","SNOMEDCT:75072002","medgen:61528","icd11.foundation:1996502540","ICD10:G71.21"],"information_content":80.9}
{"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":"MONDO:0018984","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Oroya fever","equivalent_identifiers":["MONDO:0018984","DOID:0050398","orphanet:64692","orphanet:659756","UMLS:C0029307","UMLS:C4552012","NCIT:C128441","SNOMEDCT:240453002","SNOMEDCT:262461007","medgen:45234","icd11.foundation:1031219789"],"information_content":95.4}
{"id":"MONDO:0018995","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Charcot-Marie-Tooth disease type 4","equivalent_identifiers":["MONDO:0018995","DOID:0050541","orphanet:64749","UMLS:C4082197","SNOMEDCT:715795005","medgen:905419"],"information_content":83.1}
{"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":"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: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":"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":"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":"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: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: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: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":"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":"MONDO:0019040","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chromosomal disorder","equivalent_identifiers":["MONDO:0019040","DOID:0080014","orphanet:68335","UMLS:C0008626","MESH:D025063","MEDDRA:10008810","MEDDRA:10008814","MEDDRA:10008815","MEDDRA:10008824","MEDDRA:10010270","MEDDRA:10067477","NCIT:C34470","SNOMEDCT:409709004","SNOMEDCT:74345006","medgen:3441"],"information_content":57.9}
{"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":"MONDO:0019050","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inherited hemoglobinopathy","equivalent_identifiers":["MONDO:0019050","DOID:2860","orphanet:68364","UMLS:C1960031","MESH:D006453","NCIT:C3092","SNOMEDCT:427306008"],"information_content":73.1}
{"id":"MONDO:0019053","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peroxisomal disease","equivalent_identifiers":["MONDO:0019053","DOID:906","orphanet:68373","EFO:0010956","UMLS:C0282528","MESH:D018901","NCIT:C85005","SNOMEDCT:238059005","medgen:129185","medgen:C1864399","icd11.foundation:782299726","ICD10:E71.5","ICD9:277.86"],"information_content":70.3}
{"id":"MONDO:0019056","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"neuromuscular disease","equivalent_identifiers":["MONDO:0019056","DOID:440","orphanet:68381","EFO:1001902","UMLS:C0027868","MESH:D009468","MEDDRA:10029316","MEDDRA:10029317","MEDDRA:10029323","NCIT:C189005","SNOMEDCT:255522009","SNOMEDCT:257277002","medgen:10323","ICD10:G70.9","ICD9:358"],"information_content":54.8}
{"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: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: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":"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":"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: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":"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: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: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":"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: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: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: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":"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":"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: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":"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":"MONDO:0019142","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"porphyria","equivalent_identifiers":["MONDO:0019142","DOID:13268","orphanet:738","UMLS:C1275125","UMLS:C5848307","SNOMEDCT:371628009","medgen:698423","ICD10:E80.20","ICD9:277.1"],"information_content":80.6}
{"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: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":"MONDO:0019147","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myiasis","equivalent_identifiers":["MONDO:0019147","DOID:11080","orphanet:75110","EFO:0007389","UMLS:C0027030","MESH:D009198","MEDDRA:10028586","NCIT:C128400","SNOMEDCT:60412004","medgen:10148","icd11.foundation:1367149207","ICD10:B87","ICD9:134.0"],"information_content":83.6}
{"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: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":"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":"MONDO:0019165","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"central precocious puberty","equivalent_identifiers":["MONDO:0019165","DOID:0112308","OMIM.PS:176400","orphanet:650063","EFO:0009029","UMLS:C0342543","MESH:C562787","MEDDRA:10073186","MEDDRA:10075911","NCIT:C113217","SNOMEDCT:237816004","medgen:90985","icd11.foundation:1749914533","ICD10:E22.8"],"information_content":83.6}
{"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":"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: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":"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: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: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: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: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: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":"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":"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: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: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":"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":"MONDO:0019220","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inborn disorder of cobalamin metabolism and transport","equivalent_identifiers":["MONDO:0019220","DOID:0050731","orphanet:79171","UMLS:C5681844","medgen:1826150","icd11.foundation:936546617"],"information_content":78.5}
{"id":"MONDO:0019248","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucolipidosis","equivalent_identifiers":["MONDO:0019248","DOID:0080488","orphanet:79212","UMLS:C0026697","MESH:D009081","MEDDRA:10072939","NCIT:C61267","SNOMEDCT:70528007","medgen:7731","icd11.foundation:714623911"],"information_content":84.2}
{"id":"MONDO:0019249","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mucopolysaccharidosis","equivalent_identifiers":["MONDO:0019249","DOID:12798","OMIM.PS:607014","orphanet:79213","UMLS:C0026703","MESH:D009083","MEDDRA:10028093","MEDDRA:10028096","NCIT:C61259","SNOMEDCT:11380006","medgen:7733","icd11.foundation:1596128696","ICD10:E76.3","ICD9:277.5"],"information_content":79.3}
{"id":"MONDO:0019254","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"inborn disorder of purine or pyrimidine metabolism","equivalent_identifiers":["MONDO:0019254","DOID:653","orphanet:79224","UMLS:C0029595","UMLS:C0034139","MESH:D011686","MEDDRA:10037546","SNOMEDCT:238006008","medgen:48263","ICD9:277.2"],"information_content":71.0}
{"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: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: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":"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: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":"MONDO:0019288","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"skin pigmentation disorder","equivalent_identifiers":["MONDO:0019288","DOID:10123","orphanet:79374","EFO:1000755","UMLS:C0375489","UMLS:C0549567","UMLS:C1704421","MESH:D010859","MEDDRA:10035022","MEDDRA:10035023","MEDDRA:10062080","NCIT:C34557","SNOMEDCT:414032001","SNOMEDCT:46690002","SNOMEDCT:79644001","medgen:316465","ICD10:L81","ICD9:709.09"],"information_content":69.4}
{"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: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":"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: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":"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":"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":"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: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":"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:0019347","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"peeling skin syndrome","equivalent_identifiers":["MONDO:0019347","DOID:0060283","OMIM.PS:270300","orphanet:817","UMLS:C0343064","MEDDRA:10052290","SNOMEDCT:239065004","icd11.foundation:523640904"],"information_content":85.5}
{"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":"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: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: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":"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":"MONDO:0019359","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Rocky mountain spotted fever","equivalent_identifiers":["MONDO:0019359","DOID:0050052","orphanet:83311","UMLS:C0035793","UMLS:C0343759","MESH:D012373","MEDDRA:10039130","MEDDRA:10039207","NCIT:C128410","SNOMEDCT:186772009","medgen:48500","icd11.foundation:215936800"],"information_content":100.0}
{"id":"MONDO:0019362","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epidemic typhus","equivalent_identifiers":["MONDO:0019362","DOID:0050480","orphanet:83314","UMLS:C0041473","MESH:D014438","MEDDRA:10014976","MEDDRA:10014979","MEDDRA:10024888","MEDDRA:10039129","MEDDRA:10057298","NCIT:C84689","SNOMEDCT:39111003","medgen:21744","icd11.foundation:295798687"],"information_content":92.8}
{"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: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":"MONDO:0019378","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"la Crosse encephalitis","equivalent_identifiers":["MONDO:0019378","DOID:0050118","orphanet:83483","UMLS:C0014053","UMLS:C0276379","MESH:D004670","MEDDRA:10007032","MEDDRA:10007033","MEDDRA:10014584","SNOMEDCT:416442006","SNOMEDCT:417075004","SNOMEDCT:418531007","SNOMEDCT:61094002","medgen:547309","icd11.foundation:1501615629","ICD10:A83.5","ICD9:062.5"],"information_content":100.0}
{"id":"MONDO:0019380","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"western equine encephalitis","equivalent_identifiers":["MONDO:0019380","DOID:10843","orphanet:83593","EFO:0007546","UMLS:C0153064","MESH:D020241","MEDDRA:10014614","MEDDRA:10047915","MEDDRA:10047916","NCIT:C85227","SNOMEDCT:47523006","medgen:57778","icd11.foundation:1543765035","ICD10:A83.1","ICD9:062.1"],"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":"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: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: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":"MONDO:0019403","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital dyserythropoietic anemia","equivalent_identifiers":["MONDO:0019403","DOID:1338","OMIM.PS:224120","orphanet:85","UMLS:C0002876","MESH:D000742","MEDDRA:10081457","MEDDRA:10081467","NCIT:C84646","SNOMEDCT:52951008","medgen:8064","icd11.foundation:899830967","ICD10:D64.4"],"information_content":83.6}
{"id":"MONDO:0019404","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"perineurioma","equivalent_identifiers":["MONDO:0019404","DOID:4697","orphanet:85102","UMLS:C0751691","NCIT:C4973","SNOMEDCT:404036006","medgen:199712","icd11.foundation:456459236"],"information_content":88.2}
{"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":"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: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":"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":"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":"MONDO:0019462","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"splenic marginal zone lymphoma","equivalent_identifiers":["MONDO:0019462","DOID:0050750","orphanet:86854","EFO:1000550","UMLS:C0349632","MEDDRA:10041650","MEDDRA:10041651","MEDDRA:10062113","NCIT:C4663","SNOMEDCT:128802003","SNOMEDCT:277551008","SNOMEDCT:763666008","medgen:138108","icd11.foundation:1002343712"],"information_content":92.8}
{"id":"MONDO:0019464","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"heavy chain disease","equivalent_identifiers":["MONDO:0019464","DOID:0060125","orphanet:86864","EFO:1001341","UMLS:C0018852","MESH:D006362","MEDDRA:10019350","NCIT:C3082","SNOMEDCT:6381009","SNOMEDCT:68979007","medgen:5469","ICD10:C88.2"],"information_content":88.2}
{"id":"MONDO:0019468","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"T-cell prolymphocytic leukemia","equivalent_identifiers":["MONDO:0019468","DOID:0081042","orphanet:86871","EFO:1000560","UMLS:C0023494","UMLS:C2363142","MESH:D015461","MEDDRA:10024298","MEDDRA:10042970","MEDDRA:10042985","MEDDRA:10042986","MEDDRA:10054654","NCIT:C4752","NCIT:C70649","SNOMEDCT:128821006","SNOMEDCT:277545003","SNOMEDCT:277567002","medgen:391707","icd11.foundation:352523899"],"information_content":87.2}
{"id":"MONDO:0019474","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatosplenic T-cell lymphoma","equivalent_identifiers":["MONDO:0019474","DOID:0081049","orphanet:86882","UMLS:C1333984","MEDDRA:10066957","MEDDRA:10076434","NCIT:C8459","SNOMEDCT:445406001","medgen:272711","icd11.foundation:1301206942"],"information_content":92.8}
{"id":"MONDO:0019479","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"histiocytic sarcoma","equivalent_identifiers":["MONDO:0019479","DOID:0080915","orphanet:86896","UMLS:C0334663","MESH:D054747","MEDDRA:10076876","NCIT:C27349","NCIT:C35382","SNOMEDCT:109988003","SNOMEDCT:128813000","medgen:137793","icd11.foundation:1925254893","icd11.foundation:911785965"],"information_content":95.4}
{"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: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":"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":"MONDO:0019498","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tungiasis","equivalent_identifiers":["MONDO:0019498","DOID:0050266","orphanet:879","EFO:1001445","UMLS:C0277356","MESH:D058285","MEDDRA:10080488","SNOMEDCT:64612002","medgen:78823","icd11.foundation:2076748409"],"information_content":100.0}
{"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: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: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: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: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: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: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":"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":"MONDO:0019563","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CREST syndrome","equivalent_identifiers":["MONDO:0019563","DOID:0060218","UMLS:C0206138","UMLS:C1527226","MESH:D017675","MEDDRA:10011380","MEDDRA:10011420","NCIT:C70646","SNOMEDCT:31848007","SNOMEDCT:62382002","medgen:60083","ICD10:M34.1"],"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: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":"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":"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":"MONDO:0019586","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked nonsyndromic hearing loss","equivalent_identifiers":["MONDO:0019586","DOID:0050566","orphanet:90625","UMLS:C5680192","medgen:1825990"],"information_content":87.2}
{"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":"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: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":"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":"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: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:0019623","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary angioedema","equivalent_identifiers":["MONDO:0019623","DOID:14735","OMIM.PS:106100","orphanet:91378","UMLS:C0019243","MESH:D054179","MEDDRA:10019860","MEDDRA:10056912","MEDDRA:10080957","NCIT:C84758","SNOMEDCT:82966003","medgen:9229","icd11.foundation:795969334"],"information_content":83.1}
{"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":"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: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: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: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":"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: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:0019669","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hypochondrogenesis","equivalent_identifiers":["MONDO:0019669","DOID:0080044","orphanet:93297","UMLS:C0542428","MESH:C563007","SNOMEDCT:205483007","medgen:107448","icd11.foundation:1494246635"],"information_content":100.0}
{"id":"MONDO:0019675","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spondyloepimetaphyseal dysplasia with joint laxity","equivalent_identifiers":["MONDO:0019675","DOID:0112197","OMIM.PS:271640","UMLS:C0432243","MESH:C562968","SNOMEDCT:254100000","medgen:98148"],"information_content":90.9}
{"id":"MONDO:0019696","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acromesomelic dysplasia","equivalent_identifiers":["MONDO:0019696","DOID:0080049","OMIM.PS:602875","orphanet:93437","UMLS:C5235036","MESH:C535658","MEDDRA:10083866","SNOMEDCT:279082008","medgen:1710812","icd11.foundation:2002361676"],"information_content":85.5}
{"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:0019719","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"CAKUT","equivalent_identifiers":["MONDO:0019719","DOID:0080205","OMIM.PS:610805","orphanet:93545","UMLS:C1968949","MESH:C566906","medgen:369894"],"information_content":90.9}
{"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:0019772","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Meige syndrome","equivalent_identifiers":["MONDO:0019772","DOID:3982","orphanet:93964","UMLS:C0025183","MESH:D008538","MEDDRA:10027138","SNOMEDCT:230325003","medgen:44341"],"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":"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":"MONDO:0019796","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acrocephalosyndactyly","equivalent_identifiers":["MONDO:0019796","DOID:12960","UMLS:C1510455","MEDDRA:10000590","NCIT:C34348","SNOMEDCT:268262006","medgen:267602","ICD9:755.55"],"information_content":82.1}
{"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: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":"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: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":"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: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: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":"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: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":"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":"MONDO:0019950","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital muscular dystrophy","equivalent_identifiers":["MONDO:0019950","DOID:0050557","orphanet:97242","UMLS:C0699743","UMLS:C2937300","SNOMEDCT:111501005","SNOMEDCT:240059009","medgen:147063","icd11.foundation:396687076","ICD9:359.0"],"information_content":71.6}
{"id":"MONDO:0019952","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital myopathy","equivalent_identifiers":["MONDO:0019952","DOID:0081337","OMIM.PS:117000","orphanet:97245","UMLS:C0270960","MEDDRA:10062547","medgen:124381","icd11.foundation:1185572073"],"information_content":64.9}
{"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: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: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:0019976","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dementia pugilistica","equivalent_identifiers":["MONDO:0019976","DOID:0081291","orphanet:97353","UMLS:C0149843","UMLS:C0751813","MESH:D020208","SNOMEDCT:230283005","medgen:508441"],"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":"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":"MONDO:0020066","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Ehlers-Danlos syndrome","equivalent_identifiers":["MONDO:0020066","DOID:13359","OMIM.PS:130000","orphanet:98249","UMLS:C0013720","UMLS:C1306601","MESH:D004535","MEDDRA:10011691","MEDDRA:10014316","NCIT:C34568","SNOMEDCT:398114001","medgen:41720","icd11.foundation:1122707206","ICD10:Q79.6","ICD9:756.83"],"information_content":74.7}
{"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":"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:0020088","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial partial lipodystrophy","equivalent_identifiers":["MONDO:0020088","DOID:0050440","OMIM.PS:151660","orphanet:98306","UMLS:C0271694","MESH:D052496","MEDDRA:10087377","NCIT:C84708","SNOMEDCT:49292002","medgen:124408","icd11.foundation:1661968243"],"information_content":84.2}
{"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":"MONDO:0020135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pontocerebellar hypoplasia","equivalent_identifiers":["MONDO:0020135","DOID:0060264","OMIM.PS:607596","orphanet:98523","UMLS:C0266468","UMLS:C1261175","MESH:C580383","SNOMEDCT:45163000","medgen:224703","icd11.foundation:1565266279"],"information_content":77.6}
{"id":"MONDO:0020143","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cerebral lipidosis with dementia","equivalent_identifiers":["MONDO:0020143","DOID:10742","orphanet:98544","UMLS:C0007788","UMLS:C5681730","SNOMEDCT:16517004","medgen:1825994","ICD9:330.1"],"information_content":78.0}
{"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":"MONDO:0020213","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"stromal corneal dystrophy","equivalent_identifiers":["MONDO:0020213","DOID:0060442","orphanet:98626","UMLS:C0038457","SNOMEDCT:231931001","medgen:20973","icd11.foundation:1392780216"],"information_content":82.6}
{"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":"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":"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: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":"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:0020323","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"primary mediastinal large B-cell lymphoma","equivalent_identifiers":["MONDO:0020323","DOID:0080210","orphanet:98838","UMLS:C1292754","MEDDRA:10023699","MEDDRA:10036710","MEDDRA:10036711","MEDDRA:10036712","NCIT:C9280","SNOMEDCT:128801005","SNOMEDCT:444910004","medgen:714984","icd11.foundation:950282079","ICD10:C85.2"],"information_content":85.5}
{"id":"MONDO:0020325","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anaplastic large cell lymphoma","equivalent_identifiers":["MONDO:0020325","DOID:0050744","orphanet:98841","EFO:0003032","UMLS:C0206180","MESH:D017728","MEDDRA:10073478","NCIT:C3720","SNOMEDCT:277637000","SNOMEDCT:53237008","SNOMEDCT:702785000","medgen:61533","HP:0012193"],"information_content":71.9}
{"id":"MONDO:0020334","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mast cell leukemia","equivalent_identifiers":["MONDO:0020334","DOID:9254","orphanet:98851","EFO:0007359","UMLS:C0023461","MESH:D007946","MEDDRA:10056450","MEDDRA:10056451","MEDDRA:10086961","MEDDRA:10086963","NCIT:C3169","SNOMEDCT:110002002","SNOMEDCT:128924002","medgen:44123","icd11.foundation:1359806843","ICD10:C94.3"],"information_content":90.9}
{"id":"MONDO:0020337","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"congenital dyserythropoietic anemia type 1","equivalent_identifiers":["MONDO:0020337","DOID:0111396","orphanet:98869","UMLS:C0271933","SNOMEDCT:59548005","medgen:82891"],"information_content":92.8}
{"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: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":"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":"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:0020369","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Chandler syndrome","equivalent_identifiers":["MONDO:0020369","DOID:11554","orphanet:98979","UMLS:C0544008","MEDDRA:10057487","SNOMEDCT:392481002","medgen:107777","icd11.foundation:806443940"],"information_content":100.0}
{"id":"MONDO:0020370","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Cogan-Reese syndrome","equivalent_identifiers":["MONDO:0020370","DOID:0060217","orphanet:98980","UMLS:C1168173","MEDDRA:10059200","NCIT:C84644","SNOMEDCT:404633004","medgen:218910","icd11.foundation:1968906450"],"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":"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":"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":"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: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":"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":"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":"MONDO:0020496","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial porencephaly","equivalent_identifiers":["MONDO:0020496","DOID:0112313","OMIM.PS:175780","orphanet:99810","UMLS:C1867983","SNOMEDCT:1162864000","medgen:401353","icd11.foundation:1833583032"],"information_content":90.9}
{"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: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":"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: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:0020513","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spermatocytoma","equivalent_identifiers":["MONDO:0020513","DOID:5834","DOID:7891","orphanet:99865","UMLS:C0334517","MEDDRA:10073118","NCIT:C39921","SNOMEDCT:9294008","medgen:83159"],"information_content":95.4}
{"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: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":"MONDO:0020528","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ACTH-dependent Cushing syndrome","equivalent_identifiers":["MONDO:0020528","DOID:3946","orphanet:99892","EFO:1001110","UMLS:C0342442","MESH:D047748","SNOMEDCT:190502001","SNOMEDCT:237734007","medgen:575036","icd11.foundation:212778081","ICD10:E24.0"],"information_content":92.8}
{"id":"MONDO:0020533","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Haverhill fever","equivalent_identifiers":["MONDO:0020533","DOID:13238","orphanet:99905","UMLS:C0152063","MEDDRA:10014972","MEDDRA:10019169","MEDDRA:10037907","MEDDRA:10042175","SNOMEDCT:52138004","medgen:508864","icd11.foundation:614000128","ICD10:A25.1","ICD9:026.1"],"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: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":"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:0020572","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"causalgia","equivalent_identifiers":["MONDO:0020572","DOID:3222","orphanet:99994","EFO:1000854","UMLS:C0007462","MESH:D002422","MEDDRA:10007825","MEDDRA:10064335","NCIT:C121572","SNOMEDCT:408751001","medgen:2918"],"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":"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":"MONDO:0020604","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked dominant disease","equivalent_identifiers":["MONDO:0020604","DOID:0080009","UMLS:C5566661","SNOMEDCT:1162984000","medgen:1798084"],"information_content":95.4}
{"id":"MONDO:0020605","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"X-linked recessive disease","equivalent_identifiers":["MONDO:0020605","DOID:0080012","UMLS:C5566660","SNOMEDCT:1162976004","medgen:1798083"],"information_content":82.6}
{"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: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:0020655","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"juvenile ankylosing spondylitis","equivalent_identifiers":["MONDO:0020655","DOID:0040092","UMLS:C0409675","MEDDRA:10086280","NCIT:C197919","SNOMEDCT:239805001","medgen:592563","ICD10:M08.1"],"information_content":100.0}
{"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: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":"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":"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: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":"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: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: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":"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: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: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":"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: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":"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: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: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: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":"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: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: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: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: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: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":"MONDO:0021060","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RASopathy","equivalent_identifiers":["MONDO:0021060","DOID:0080690","orphanet:536391","EFO:1001502","UMLS:C5555857","NCIT:C179667","medgen:1792298"],"information_content":73.4}
{"id":"MONDO:0021069","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant endocrine neoplasm","equivalent_identifiers":["MONDO:0021069","DOID:170","UMLS:C0153658","MESH:D004701","MEDDRA:10014708","MEDDRA:10025546","MEDDRA:10025897","MEDDRA:10061122","NCIT:C3575","SNOMEDCT:371982006","medgen:56319","ICD10:C75.9","ICD9:194.9"],"information_content":58.2}
{"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":"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: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":"MONDO:0021118","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"intestinal neoplasm","equivalent_identifiers":["MONDO:0021118","DOID:4610","UMLS:C0021841","NCIT:C3141","SNOMEDCT:126769007","medgen:43932"],"information_content":56.1}
{"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":"MONDO:0021162","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"carotenemia","equivalent_identifiers":["MONDO:0021162","DOID:9969","UMLS:C0154271","MEDDRA:10007673","MEDDRA:10007679","MEDDRA:10020594","MEDDRA:10020595","NCIT:C26963","SNOMEDCT:35487009","medgen:56338","ICD10:E67.1","ICD9:278.3"],"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:0021169","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epithelioid hemangioma","equivalent_identifiers":["MONDO:0021169","DOID:474","orphanet:675396","UMLS:C0205788","MEDDRA:10048637","NCIT:C4298","SNOMEDCT:125574005","SNOMEDCT:189869009","SNOMEDCT:33929001","medgen:61449","HP:0032060"],"information_content":88.2}
{"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:0021553","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"transverse myelitis","equivalent_identifiers":["MONDO:0021553","DOID:0080743","UMLS:C0026976","MEDDRA:10028527","SNOMEDCT:16631009","medgen:6488","icd11.foundation:1328350091"],"information_content":100.0}
{"id":"MONDO:0021637","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"low grade glioma","equivalent_identifiers":["MONDO:0021637","DOID:0080829","UMLS:C1997217","NCIT:C132067","SNOMEDCT:428954009","medgen:744283"],"information_content":66.3}
{"id":"MONDO:0021657","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ovarian sex cord-stromal tumor","equivalent_identifiers":["MONDO:0021657","DOID:0080369","UMLS:C0600113","NCIT:C4862","SNOMEDCT:237058000","medgen:154644","HP:0031918"],"information_content":72.4}
{"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":"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:0022742","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"occupational asthma","equivalent_identifiers":["MONDO:0022742","DOID:0080820","UMLS:C0264423","MESH:D059366","MEDDRA:10070836","SNOMEDCT:57607007","medgen:452342"],"information_content":100.0}
{"id":"MONDO:0022965","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"desmoplastic infantile ganglioglioma","equivalent_identifiers":["MONDO:0022965","DOID:0081259","UMLS:C1321878","MEDDRA:10089026","NCIT:C4738","medgen:231168"],"information_content":100.0}
{"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":"MONDO:0023227","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gestational diabetes insipidus","equivalent_identifiers":["MONDO:0023227","DOID:0081057","UMLS:C2932666","MESH:C548014","medgen:444359"],"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":"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:0024182","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dry beriberi","equivalent_identifiers":["MONDO:0024182","DOID:0070318","UMLS:C0268670","SNOMEDCT:71021002","SNOMEDCT:79389008","medgen:541401","icd11.foundation:582233757","ICD10:E51.11"],"information_content":100.0}
{"id":"MONDO:0024183","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"wet beriberi","equivalent_identifiers":["MONDO:0024183","DOID:0070317","UMLS:C0268669","SNOMEDCT:67360000","medgen:541400","icd11.foundation:1753713002","ICD10:E51.12"],"information_content":100.0}
{"id":"MONDO:0024228","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"miliaria profunda","equivalent_identifiers":["MONDO:0024228","DOID:0070320","UMLS:C0263468","MEDDRA:10057045","SNOMEDCT:47317002","medgen:537908","icd11.foundation:1540615212","ICD10:L74.2"],"information_content":100.0}
{"id":"MONDO:0024229","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"miliaria crystallina","equivalent_identifiers":["MONDO:0024229","DOID:0070321","UMLS:C3241961","MEDDRA:10042660","MEDDRA:10057044","medgen:757640","icd11.foundation:796835029","ICD10:L74.1"],"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:0024268","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"superficial mycosis","equivalent_identifiers":["MONDO:0024268","DOID:0050133","UMLS:C2980104","SNOMEDCT:276206000","medgen:755998","ICD10:B36.9"],"information_content":80.6}
{"id":"MONDO:0024286","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign blood vessel neoplasm","equivalent_identifiers":["MONDO:0024286","DOID:60006","UMLS:C0685121","NCIT:C8537","SNOMEDCT:400110009","SNOMEDCT:92017000","medgen:195779"],"information_content":68.1}
{"id":"MONDO:0024299","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vitamin D-dependent rickets","equivalent_identifiers":["MONDO:0024299","DOID:0080883","UMLS:C0221468","MEDDRA:10000643","MEDDRA:10039124","SNOMEDCT:190640006","SNOMEDCT:68295002","medgen:526251","ICD10:E55.0","ICD9:268.0"],"information_content":86.3}
{"id":"MONDO:0024305","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acquired hyperprolactinemia","equivalent_identifiers":["MONDO:0024305","DOID:12700","ICD10:E22.1"],"information_content":92.8}
{"id":"MONDO:0024306","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lactic acidosis","equivalent_identifiers":["MONDO:0024306","DOID:3650","ICD10:E87.20"],"information_content":100.0}
{"id":"MONDO:0024323","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"glomangiomyoma","equivalent_identifiers":["MONDO:0024323","DOID:8020","UMLS:C0334422","NCIT:C4223","SNOMEDCT:189745002","SNOMEDCT:34550005","medgen:87240"],"information_content":95.4}
{"id":"MONDO:0024358","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"complex sleep apnea","equivalent_identifiers":["MONDO:0024358","DOID:0080302","UMLS:C0338495","SNOMEDCT:230493001","medgen:83271"],"information_content":100.0}
{"id":"MONDO:0024377","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"circadian rhythm sleep disorder, delayed sleep phase type","equivalent_identifiers":["MONDO:0024377","DOID:0111141","UMLS:C0393770","NCIT:C95073","SNOMEDCT:80623000","medgen:97962"],"information_content":100.0}
{"id":"MONDO:0024432","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"plexopathy","equivalent_identifiers":["MONDO:0024432","DOID:3688","EFO:0009559","UMLS:C0270891","UMLS:C1335437","NCIT:C27744","SNOMEDCT:2231001","medgen:543047"],"information_content":79.9}
{"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":"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":"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:0024473","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Astrakhan spotted fever","equivalent_identifiers":["MONDO:0024473","DOID:0050041","UMLS:C5574872","medgen:1814171"],"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: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":"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":"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":"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: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: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":"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":"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":"MONDO:0024573","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hypertrophic cardiomyopathy","equivalent_identifiers":["MONDO:0024573","DOID:0080326","OMIM.PS:192600","UMLS:C0949658","UMLS:C3532230","MESH:D024741","NCIT:C84773","SNOMEDCT:471885006","SNOMEDCT:83978005","medgen:183649"],"information_content":69.9}
{"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":"MONDO:0024608","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dientamoebiasis","equivalent_identifiers":["MONDO:0024608","DOID:946","UMLS:C0012147","UMLS:C0411268","MESH:D004030","MEDDRA:10022713","MEDDRA:10044621","MEDDRA:10079022","MEDDRA:10079030","SNOMEDCT:67915005","medgen:41551"],"information_content":100.0}
{"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":"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: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: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: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":"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":"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: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":"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: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":"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:0029145","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofacial cleft 8","equivalent_identifiers":["MONDO:0029145","DOID:0080401","OMIM:618149","UMLS:C1851878","MESH:C565070","medgen:377541"],"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: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":"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: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":"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":"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: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: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":"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: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: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: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: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: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":"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: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: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: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":"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: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: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":"MONDO:0030639","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Teebi syndrome","equivalent_identifiers":["MONDO:0030639","DOID:0081073","OMIM.PS:145420","UMLS:C0796179","MESH:C538387","MEDDRA:10079435","medgen:208673"],"information_content":92.8}
{"id":"MONDO:0030700","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune glomerulonephritis","equivalent_identifiers":["MONDO:0030700","DOID:0040094","UMLS:C3278903","medgen:480533"],"information_content":100.0}
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{"id":"MONDO:0030703","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune vasculitis","equivalent_identifiers":["MONDO:0030703","DOID:0040097","UMLS:C1328843","MEDDRA:10089169","MEDDRA:10090809","SNOMEDCT:427213005","medgen:730236"],"information_content":95.4}
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{"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":"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}
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{"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":"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: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}
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{"id":"MONDO:0031012","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune uveitis","equivalent_identifiers":["MONDO:0031012","DOID:0040088","UMLS:C3888523","MEDDRA:10075690","medgen:1843501"],"information_content":100.0}
{"id":"MONDO:0031013","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune optic neuritis","equivalent_identifiers":["MONDO:0031013","DOID:0040089"],"information_content":100.0}
{"id":"MONDO:0031014","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"autoimmune gastritis","equivalent_identifiers":["MONDO:0031014","DOID:0040090","UMLS:C3887639","MEDDRA:10082104","NCIT:C95752","medgen:854482","icd11.foundation:248006617"],"information_content":100.0}
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{"id":"MONDO:0031166","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"macular dystrophy, retinal","equivalent_identifiers":["MONDO:0031166","DOID:0070438","OMIM.PS:136550"],"information_content":89.4}
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{"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}
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{"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":"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:0031632","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"developmental delay with short stature, dysmorphic facial features, and sparse hair","equivalent_identifiers":["MONDO:0031632","DOID:0070476","OMIM.PS:616901","UMLS:C4310801","SNOMEDCT:1217229007","medgen:934768"],"information_content":92.8}
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{"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: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}
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{"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":"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}
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{"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":"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: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":"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: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: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: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}
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{"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":"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":"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}
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{"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}
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{"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}
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{"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: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: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}
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{"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: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: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: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":"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: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: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":"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: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: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}
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{"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: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}
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{"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}
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{"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}
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{"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: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":"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}
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{"id":"MONDO:0033885","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"mitochondrial complex IV deficiency, nuclear-type","equivalent_identifiers":["MONDO:0033885","DOID:3762","OMIM.PS:220110","orphanet:254905","UMLS:C0268237","MESH:D030401","NCIT:C98910","SNOMEDCT:67434000"],"information_content":79.9}
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{"id":"MONDO:0043275","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"TORCH syndrome","equivalent_identifiers":["MONDO:0043275","DOID:0080835","UMLS:C0270173","MEDDRA:10082952","MEDDRA:10082953","NCIT:C98609","SNOMEDCT:41679006","medgen:78715"],"information_content":100.0}
{"id":"MONDO:0044210","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"thalassemia minor","equivalent_identifiers":["MONDO:0044210","DOID:0080774","UMLS:C0085578","UMLS:C0702157","UMLS:C0869532","MEDDRA:10043393","MEDDRA:10043396","MEDDRA:10054662","MEDDRA:10054664","MEDDRA:10084867","MEDDRA:10084876","SNOMEDCT:19442009","medgen:450549"],"information_content":100.0}
{"id":"MONDO:0044212","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic idiopathic urticaria","equivalent_identifiers":["MONDO:0044212","DOID:0080749","UMLS:C0578870","MEDDRA:10072757","MEDDRA:10072758","SNOMEDCT:302162004","medgen:662267","HP:0410133"],"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: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}
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{"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: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: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}
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{"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: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: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":"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":"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":"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}
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{"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}
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{"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":"MONDO:0054701","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Kleefstra syndrome 2","equivalent_identifiers":["MONDO:0054701","DOID:0080598","OMIM:617768","UMLS:C4540395","medgen:1623903"],"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: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: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: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}
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{"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: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":"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: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: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: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}
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{"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: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}
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{"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: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}
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{"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":"MONDO:0100115","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"acute flaccid myelitis","equivalent_identifiers":["MONDO:0100115","DOID:0080947","orphanet:623801","UMLS:C4290000","MESH:C000629404","MEDDRA:10082097","NCIT:C128379","SNOMEDCT:897031002","medgen:927532"],"information_content":100.0}
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{"id":"MONDO:0100135","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Dravet syndrome","equivalent_identifiers":["MONDO:0100135","DOID:0080422","UMLS:C0751122","MEDDRA:10073677","MEDDRA:10073682","NCIT:C116573","NCIT:C147071","SNOMEDCT:230437002","medgen:148243","icd11.foundation:1255654700"],"information_content":95.4}
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{"id":"MONDO:0100168","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"desmoid tumor caused by somatic mutation","equivalent_identifiers":["MONDO:0100168","DOID:0111349","UMLS:C2675440","medgen:436434"],"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}
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{"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:0100233","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"long COVID-19","equivalent_identifiers":["MONDO:0100233","DOID:0080848","UMLS:C5433293","MESH:D000094024","MEDDRA:10085503","MEDDRA:10085504","MEDDRA:10085868","NCIT:C179263","SNOMEDCT:1119303003","medgen:1735839"],"information_content":81.7}
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{"id":"MONDO:0100247","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multiple congenital anomalies-hypotonia-seizures syndrome","equivalent_identifiers":["MONDO:0100247","DOID:0080503","OMIM.PS:614080","UMLS:C5191419","SNOMEDCT:785303004","medgen:1683744"],"information_content":89.4}
{"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:0100251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome","equivalent_identifiers":["MONDO:0100251","DOID:0111063","orphanet:306661","UMLS:C1876187","MESH:C566870","NCIT:C131851","SNOMEDCT:860796007","medgen:360297","ICD10:M11.2"],"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: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":"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: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: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":"MONDO:0100309","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hereditary ataxia","equivalent_identifiers":["MONDO:0100309","DOID:0050951","orphanet:183518","EFO:0009671","UMLS:C0004138","UMLS:C2936896","MESH:C531684","MEDDRA:10062002","SNOMEDCT:763597000","medgen:2478","icd11.foundation:442347652"],"information_content":64.5}
{"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":"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:0100338","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"urinary tract infection","equivalent_identifiers":["MONDO:0100338","DOID:0080784","EFO:0003103","UMLS:C0042029","MESH:D014552","MEDDRA:10021872","MEDDRA:10046544","MEDDRA:10046571","MEDDRA:10046574","MEDDRA:10046576","MEDDRA:10046577","MEDDRA:10046848","medgen:52943","ICD10:N39.0"],"information_content":77.8}
{"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":"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":"MONDO:0100342","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"malignant glioma","equivalent_identifiers":["MONDO:0100342","DOID:3070","UMLS:C0555198","MEDDRA:10018335","MEDDRA:10065443","NCIT:C4822","medgen:107826","KEGG.DISEASE:05214"],"information_content":64.9}
{"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: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: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: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: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":"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":"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":"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":"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":"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":"MONDO:0100452","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"RPE65-related dominant retinopathy","equivalent_identifiers":["MONDO:0100452","DOID:0112144"],"information_content":95.4}
{"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":"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":"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":"MONDO:0600030","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)","equivalent_identifiers":["MONDO:0600030","DOID:0080649","orphanet:585956","UMLS:C2698306","UMLS:C2698315","UMLS:C5680320","NCIT:C80341","NCIT:C80347","SNOMEDCT:450956008","SNOMEDCT:838343008","medgen:396324"],"information_content":89.4}
{"id":"MONDO:0700081","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"newborn respiratory distress syndrome","equivalent_identifiers":["MONDO:0700081","DOID:12716","EFO:1000644","UMLS:C0020192","MESH:D006819","MEDDRA:10020477","NCIT:C27560","SNOMEDCT:46775006","ICD10:P22.0"],"information_content":95.4}
{"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":"MONDO:0700117","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"SLC6A3-related dopamine transporter deficiency syndrome","equivalent_identifiers":["MONDO:0700117","DOID:0070487"],"information_content":92.8}
{"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":"MONDO:0700251","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"orofacial cleft 7","equivalent_identifiers":["MONDO:0700251","DOID:0080400","UMLS:C1833538","MESH:C563464","medgen:371589"],"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: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":"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":"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: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: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: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":"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: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":"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: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":"MONDO:0850092","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"post-cardiac arrest syndrome","equivalent_identifiers":["MONDO:0850092","DOID:0070306","UMLS:C4285706","MESH:D000080942","MEDDRA:10078202","medgen:1672555"],"information_content":100.0}
{"id":"MONDO:0850094","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"drug-induced hearing loss","equivalent_identifiers":["MONDO:0850094","DOID:0070310"],"information_content":100.0}
{"id":"MONDO:0850098","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"oligoasthenoteratozoospermia","equivalent_identifiers":["MONDO:0850098","DOID:0070311"],"information_content":100.0}
{"id":"MONDO:0850110","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"melanoma in congenital melanocytic nevus","equivalent_identifiers":["MONDO:0850110","DOID:0070327","UMLS:C1711221","NCIT:C48613","medgen:313976"],"information_content":95.4}
{"id":"MONDO:0850127","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"epithelioid inflammatory myofibroblastic sarcoma","equivalent_identifiers":["MONDO:0850127","DOID:0080372","UMLS:C5880506","SNOMEDCT:1290858009","SNOMEDCT:1290859001","medgen:1843877"],"information_content":100.0}
{"id":"MONDO:0850129","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"gastroesophageal cancer","equivalent_identifiers":["MONDO:0850129","DOID:0080374","UMLS:C0346619","MEDDRA:10056267","MEDDRA:10062878","SNOMEDCT:187734007","medgen:577508"],"information_content":100.0}
{"id":"MONDO:0850149","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"nephroma","equivalent_identifiers":["MONDO:0850149","DOID:0080615"],"information_content":100.0}
{"id":"MONDO:0850151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lymph node carcinoma","equivalent_identifiers":["MONDO:0850151","DOID:0080618"],"information_content":100.0}
{"id":"MONDO:0850154","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"tongue carcinoma","equivalent_identifiers":["MONDO:0850154","DOID:0080641","UMLS:C0558353","MEDDRA:10007459","NCIT:C4824","SNOMEDCT:269516007","medgen:154320"],"information_content":79.9}
{"id":"MONDO:0850199","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"NK cell deficiency","equivalent_identifiers":["MONDO:0850199","DOID:0080709","UMLS:C4693357","medgen:1644714"],"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:0850269","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"core binding factor acute myeloid leukemia","equivalent_identifiers":["MONDO:0850269","DOID:0080796","EFO:1002001","UMLS:C3839741","NCIT:C122688","SNOMEDCT:702446006","medgen:825586"],"information_content":100.0}
{"id":"MONDO:0850271","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myeloid leukemia associated with down syndrome","equivalent_identifiers":["MONDO:0850271","DOID:0080798","UMLS:C2825149","NCIT:C43223","SNOMEDCT:450935006","SNOMEDCT:724644005","medgen:416725"],"information_content":92.8}
{"id":"MONDO:0850287","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"aspirin-induced respiratory disease","equivalent_identifiers":["MONDO:0850287","DOID:0080822"],"information_content":100.0}
{"id":"MONDO:0850289","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"human betaherpesvirus 5 infectious disease","equivalent_identifiers":["MONDO:0850289","DOID:0080827","ICD10:B25","ICD9:078.5"],"information_content":100.0}
{"id":"MONDO:0850292","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"subjective cognitive decline","equivalent_identifiers":["MONDO:0850292","DOID:0080831"],"information_content":100.0}
{"id":"MONDO:0850301","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pemphigoid","equivalent_identifiers":["MONDO:0850301","DOID:0080841","SNOMEDCT:86142006","icd11.foundation:445309625"],"information_content":100.0}
{"id":"MONDO:0850312","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"anaplastic pleomorphic xanthoastrocytoma","equivalent_identifiers":["MONDO:0850312","DOID:0080854","UMLS:C4283858","MEDDRA:10085350","NCIT:C129327","SNOMEDCT:733848006","medgen:924393"],"information_content":92.8}
{"id":"MONDO:0850332","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IDH-mutant anaplastic astrocytoma","equivalent_identifiers":["MONDO:0850332","DOID:0080875","UMLS:C5669733","NCIT:C185167"],"information_content":82.6}
{"id":"MONDO:0850333","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IDH-wildtype anaplastic astrocytoma","equivalent_identifiers":["MONDO:0850333","DOID:0080876","UMLS:C4289980","NCIT:C129291"],"information_content":95.4}
{"id":"MONDO:0850339","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"posterior fossa ependymoma","equivalent_identifiers":["MONDO:0850339","DOID:0080889","UMLS:C5670542","NCIT:C186443","medgen:1811888"],"information_content":89.4}
{"id":"MONDO:0850340","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"supratentorial ependymoma","equivalent_identifiers":["MONDO:0850340","DOID:0080890","UMLS:C5670470","NCIT:C186343","medgen:1811811"],"information_content":89.4}
{"id":"MONDO:0850368","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"immunoglobulin heavy-and-light chain","equivalent_identifiers":["MONDO:0850368","DOID:0080935"],"information_content":100.0}
{"id":"MONDO:0850415","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"rhabdomyolysis-myalgia syndrome","equivalent_identifiers":["MONDO:0850415","DOID:0080992"],"information_content":100.0}
{"id":"MONDO:0850426","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"high-grade B-cell lymphoma double-hit/triple-hit","equivalent_identifiers":["MONDO:0850426","DOID:0081004","UMLS:C4285066","MEDDRA:10080202","NCIT:C125904"],"information_content":85.5}
{"id":"MONDO:0850472","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"ST2 diffuse large B-cell lymphoma","equivalent_identifiers":["MONDO:0850472","DOID:0081068","UMLS:C5707084","NCIT:C187445","medgen:1815989"],"information_content":89.4}
{"id":"MONDO:0850618","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"injection anthrax","equivalent_identifiers":["MONDO:0850618","DOID:0081239"],"information_content":100.0}
{"id":"MONDO:0850812","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dendritic cell deficiency","equivalent_identifiers":["MONDO:0850812","DOID:0111963","UMLS:C4746814","medgen:1656300"],"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:0858910","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"dropped head syndrome","equivalent_identifiers":["MONDO:0858910","DOID:0060034","UMLS:C3266164","MESH:D000094222","MEDDRA:10072442","SNOMEDCT:449899001","medgen:757938"],"information_content":100.0}
{"id":"MONDO:0858916","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"pituitary blastoma","equivalent_identifiers":["MONDO:0858916","DOID:0081244","UMLS:C4743978","NCIT:C155304","medgen:1656462","HP:0034921"],"information_content":100.0}
{"id":"MONDO:0858939","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype","equivalent_identifiers":["MONDO:0858939","DOID:0081277","UMLS:C5669918","NCIT:C185467","medgen:1808288"],"information_content":90.9}
{"id":"MONDO:0858940","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"infant-type hemispheric glioma","equivalent_identifiers":["MONDO:0858940","DOID:0081278","UMLS:C5669919","MEDDRA:10089840","NCIT:C185471","medgen:1806401"],"information_content":89.4}
{"id":"MONDO:0858944","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"myxoid glioneuronal tumor","equivalent_identifiers":["MONDO:0858944","DOID:0081285","UMLS:C5555545","NCIT:C179229","medgen:1791986"],"information_content":92.8}
{"id":"MONDO:0858950","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"traumatic brain injury","equivalent_identifiers":["MONDO:0858950","DOID:0081292"],"information_content":100.0}
{"id":"MONDO:0858956","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse leptomeningeal glioneuronal tumor","equivalent_identifiers":["MONDO:0858956","DOID:0081302","UMLS:C4329735","NCIT:C129424","SNOMEDCT:733123006","medgen:1391318"],"information_content":95.4}
{"id":"MONDO:0858957","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"multinodular and vacuolating neuronal tumor","equivalent_identifiers":["MONDO:0858957","DOID:0081303","UMLS:C4330721","NCIT:C129427","medgen:1372723"],"information_content":90.9}
{"id":"MONDO:0858959","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"polymorphous low grade neuroepithelial tumor of the young","equivalent_identifiers":["MONDO:0858959","DOID:0081305","UMLS:C5556330","NCIT:C180378","medgen:1792771"],"information_content":95.4}
{"id":"MONDO:0858960","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"spindle cell oncocytoma","equivalent_identifiers":["MONDO:0858960","DOID:0081306","UMLS:C2986561","NCIT:C94537","SNOMEDCT:703844007","medgen:458787"],"information_content":100.0}
{"id":"MONDO:0858974","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"breast implant illness","equivalent_identifiers":["MONDO:0858974","DOID:0081323"],"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: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: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":"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: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: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: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: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":"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: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: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:0859592","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"IDH-mutant and 1p/19q-codeleted oligodendroglioma","equivalent_identifiers":["MONDO:0859592","DOID:0080882","UMLS:C4288558","UMLS:C4289979","NCIT:C129318","NCIT:C129321","medgen:926090"],"information_content":86.3}
{"id":"MONDO:0859597","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cns neuroblastoma with FOXR2 activation","equivalent_identifiers":["MONDO:0859597","DOID:0080906","UMLS:C5670625","NCIT:C186547"],"information_content":92.8}
{"id":"MONDO:0859689","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hepatobiliary benign neoplasm","equivalent_identifiers":["MONDO:0859689","DOID:3117"],"information_content":86.3}
{"id":"MONDO:0956962","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"benign teratoma","equivalent_identifiers":["MONDO:0956962","DOID:0080602","UMLS:C1879828","MEDDRA:10048460","NCIT:C67107","medgen:361206"],"information_content":77.8}
{"id":"MONDO:0956969","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"chronic inducible urticaria","equivalent_identifiers":["MONDO:0956969","DOID:0080748","UMLS:C5197720","MESH:D000094482","medgen:1678519"],"information_content":100.0}
{"id":"MONDO:0956980","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"vascular parkinsonism","equivalent_identifiers":["MONDO:0956980","DOID:0080856","UMLS:C0393568","MEDDRA:10068100","NCIT:C195932","SNOMEDCT:230296006","medgen:581453","icd11.foundation:1852145464"],"information_content":100.0}
{"id":"MONDO:0956985","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"lipofibromatosis-like neural tumor","equivalent_identifiers":["MONDO:0956985","DOID:0080894"],"information_content":100.0}
{"id":"MONDO:0956986","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"solitary fibrous tumor/hemangiopericytoma","equivalent_identifiers":["MONDO:0956986","DOID:0080897"],"information_content":100.0}
{"id":"MONDO:0957196","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse midline glioma, H3 K27M-mutant","equivalent_identifiers":["MONDO:0957196","DOID:0080684","UMLS:C4289688","NCIT:C129309","SNOMEDCT:733862004","medgen:927220"],"information_content":92.8}
{"id":"MONDO:0957197","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"diffuse glioma, H3 G34 mutant","equivalent_identifiers":["MONDO:0957197","DOID:0080880","EFO:0021505","UMLS:C5669880","MEDDRA:10089838","NCIT:C185371"],"information_content":89.4}
{"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: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:0957317","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"hematuria, benign familial","equivalent_identifiers":["MONDO:0957317","DOID:0111365","OMIM.PS:141200","UMLS:C0241908","MESH:C562476","MEDDRA:10060876","MEDDRA:10060885","SNOMEDCT:236418003","medgen:66039"],"information_content":92.8}
{"id":"MONDO:0957524","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"COX deficiency, benign infantile mitochondrial myopathy","equivalent_identifiers":["MONDO:0957524","DOID:0081377","UMLS:C5779825","SNOMEDCT:1264009006"],"information_content":100.0}
{"id":"MONDO:0957896","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"metabolic dysfunction and alcohol associated liver disease","equivalent_identifiers":["MONDO:0957896","DOID:0070508"],"information_content":100.0}
{"id":"MONDO:0958150","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"Borrelia miyamotoi disease","equivalent_identifiers":["MONDO:0958150","DOID:0070527","UMLS:C4076531","SNOMEDCT:713014002"],"information_content":100.0}
{"id":"MONDO:0958151","category":["biolink:Disease","biolink:DiseaseOrPhenotypicFeature","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing"],"name":"cepacia syndrome","equivalent_identifiers":["MONDO:0958151","DOID:0070528"],"information_content":100.0}
{"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: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: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}
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{"id":"UniProtKB:A0A087WXI2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A087WXI2_HUMAN Fc gamma binding protein (trembl)","equivalent_identifiers":["UniProtKB:A0A087WXI2","ENSEMBL:ENSP00000481056","ENSEMBL:ENSP00000481056.3"]}
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{"id":"UniProtKB:A0A0A6YYJ8","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A0A6YYJ8_HUMAN Luc7-like protein (trembl)","equivalent_identifiers":["UniProtKB:A0A0A6YYJ8","ENSEMBL:ENSP00000440222"]}
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{"id":"UniProtKB:A0A0B4J2F6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A0B4J2F6_HUMAN Nuclear pore complex interacting protein family member A2 (trembl)","equivalent_identifiers":["UniProtKB:A0A0B4J2F6","ENSEMBL:ENSP00000446882","ENSEMBL:ENSP00000446882.1","ENSEMBL:ENSP00000484195","ENSEMBL:ENSP00000484195.1"]}
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{"id":"UniProtKB:A0A0J9YXS1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A0J9YXS1_HUMAN Kinesin light chain (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:A0A0J9YXS1","ENSEMBL:ENSP00000488520","ENSEMBL:ENSP00000488520.1"]}
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{"id":"UniProtKB:A0A1B0GVM2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A1B0GVM2_HUMAN TRPM8 channel associated factor 2C (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:A0A1B0GVM2","ENSEMBL:ENSP00000490573","ENSEMBL:ENSP00000490573.1"]}
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{"id":"UniProtKB:A0A1W2PNV4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A1W2PNV4_HUMAN Actin-related protein 2/3 complex subunit 1A (trembl)","equivalent_identifiers":["UniProtKB:A0A1W2PNV4","ENSEMBL:ENSP00000491073","ENSEMBL:ENSP00000491073.1"]}
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{"id":"UniProtKB:A0A1W2PPQ1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A1W2PPQ1_HUMAN Glycine cleavage system H protein (trembl)","equivalent_identifiers":["UniProtKB:A0A1W2PPQ1","ENSEMBL:ENSP00000491651","ENSEMBL:ENSP00000491651.1","ENSEMBL:ENSP00000517632","ENSEMBL:ENSP00000517632.1"]}
{"id":"UniProtKB:A0A1W2PPV4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A1W2PPV4_HUMAN PAC domain-containing protein (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:A0A1W2PPV4","ENSEMBL:ENSP00000491750","ENSEMBL:ENSP00000491750.1"]}
{"id":"UniProtKB:A0A1W2PRG6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A1W2PRG6_HUMAN Potassium voltage-gated channel subfamily H member 1 (trembl)","equivalent_identifiers":["UniProtKB:A0A1W2PRG6","ENSEMBL:ENSP00000492303","ENSEMBL:ENSP00000492303.1"]}
{"id":"UniProtKB:A0A1W2PS29","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A1W2PS29_HUMAN Glycine cleavage system H protein (trembl)","equivalent_identifiers":["UniProtKB:A0A1W2PS29","ENSEMBL:ENSP00000492798","ENSEMBL:ENSP00000492798.1","ENSEMBL:ENSP00000517625","ENSEMBL:ENSP00000517625.1"]}
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{"id":"UniProtKB:A0A2R8Y634","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A2R8Y634_HUMAN Oocyte secreted protein 1 (trembl)","equivalent_identifiers":["UniProtKB:A0A2R8Y634","ENSEMBL:ENSP00000494485","ENSEMBL:ENSP00000494485.1","ENSEMBL:ENSP00000495229","ENSEMBL:ENSP00000495229.1"]}
{"id":"UniProtKB:A0A3B3ISG8","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A3B3ISG8_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial (trembl)","equivalent_identifiers":["UniProtKB:A0A3B3ISG8","ENSEMBL:ENSP00000497305","ENSEMBL:ENSP00000497305.1"]}
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{"id":"UniProtKB:A0A499FJE1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A499FJE1_HUMAN BolA-like protein 2 (trembl)","equivalent_identifiers":["UniProtKB:A0A499FJE1","ENSEMBL:ENSP00000306752","ENSEMBL:ENSP00000306752.4"]}
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{"id":"UniProtKB:A0A5F9ZHB4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A5F9ZHB4_HUMAN Dipeptidase 3 (trembl)","equivalent_identifiers":["UniProtKB:A0A5F9ZHB4","ENSEMBL:ENSP00000500237","ENSEMBL:ENSP00000500237.1"]}
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{"id":"UniProtKB:A0A7P0T8U4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A7P0T8U4_HUMAN Synaptosomal-associated protein 47 (trembl)","equivalent_identifiers":["UniProtKB:A0A7P0T8U4","ENSEMBL:ENSP00000314157","ENSEMBL:ENSP00000314157.7","ENSEMBL:ENSP00000505265","ENSEMBL:ENSP00000505265.1"]}
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{"id":"UniProtKB:A0A804CL36","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A804CL36_HUMAN Cullin 4B (trembl)","equivalent_identifiers":["UniProtKB:A0A804CL36","ENSEMBL:ENSP00000384109","ENSEMBL:ENSP00000384109.4"]}
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{"id":"UniProtKB:A0A8C8KBY2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A8C8KBY2_HUMAN Inositol 1,4,5-trisphosphate receptor (trembl)","equivalent_identifiers":["UniProtKB:A0A8C8KBY2","ENSEMBL:ENSP00000306253","ENSEMBL:ENSP00000306253.9"]}
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{"id":"UniProtKB:A0A8J8YU24","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A8J8YU24_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial (trembl)","equivalent_identifiers":["UniProtKB:A0A8J8YU24","ENSEMBL:ENSP00000276062","ENSEMBL:ENSP00000276062.9"]}
{"id":"UniProtKB:A0A8J8YWN6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A8J8YWN6_HUMAN cytochrome-b5 reductase (trembl)","equivalent_identifiers":["UniProtKB:A0A8J8YWN6","ENSEMBL:ENSP00000354468","ENSEMBL:ENSP00000354468.5"]}
{"id":"UniProtKB:A0A8J9AZZ3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A8J9AZZ3_HUMAN Interleukin-11 receptor subunit alpha (trembl)","equivalent_identifiers":["UniProtKB:A0A8J9AZZ3","ENSEMBL:ENSP00000450565","ENSEMBL:ENSP00000450565.2"]}
{"id":"UniProtKB:A0A8J9BYE6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A8J9BYE6_HUMAN KN motif and ankyrin repeat domains 1 (trembl)","equivalent_identifiers":["UniProtKB:A0A8J9BYE6","ENSEMBL:ENSP00000477725","ENSEMBL:ENSP00000477725.2"]}
{"id":"UniProtKB:A0A9H4AZX0","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0A9H4AZX0_HUMAN Fibrillin 2 (trembl)","equivalent_identifiers":["UniProtKB:A0A9H4AZX0","ENSEMBL:ENSP00000424571","ENSEMBL:ENSP00000424571.2"]}
{"id":"UniProtKB:A0AAA9WZE8","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0AAA9WZE8_HUMAN Lipocalin 9 (trembl)","equivalent_identifiers":["UniProtKB:A0AAA9WZE8","ENSEMBL:ENSP00000277526","ENSEMBL:ENSP00000277526.4"]}
{"id":"UniProtKB:A0AAA9X175","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0AAA9X175_HUMAN Phosphodiesterase (trembl)","equivalent_identifiers":["UniProtKB:A0AAA9X175","ENSEMBL:ENSP00000355847","ENSEMBL:ENSP00000355847.3"]}
{"id":"UniProtKB:A0AAA9X3B1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0AAA9X3B1_HUMAN Interleukin 17 receptor E like (trembl)","equivalent_identifiers":["UniProtKB:A0AAA9X3B1","ENSEMBL:ENSP00000374633","ENSEMBL:ENSP00000374633.3"]}
{"id":"UniProtKB:A0AAA9X7E5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0AAA9X7E5_HUMAN Elongin A (trembl)","equivalent_identifiers":["UniProtKB:A0AAA9X7E5","ENSEMBL:ENSP00000395574","ENSEMBL:ENSP00000395574.3"]}
{"id":"UniProtKB:A0AAA9Y8Y6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0AAA9Y8Y6_HUMAN ERCC excision repair 6 like 2 (trembl)","equivalent_identifiers":["UniProtKB:A0AAA9Y8Y6","ENSEMBL:ENSP00000499371","ENSEMBL:ENSP00000499371.3"]}
{"id":"UniProtKB:A0AAG2QDU5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0AAG2QDU5_HUMAN Chromosome 1 open reading frame 167 (trembl)","equivalent_identifiers":["UniProtKB:A0AAG2QDU5","ENSEMBL:ENSP00000414909","ENSEMBL:ENSP00000414909.3"]}
{"id":"UniProtKB:A0AAG2SVT6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0AAG2SVT6_HUMAN Ig-like domain-containing protein (trembl)","equivalent_identifiers":["UniProtKB:A0AAG2SVT6","ENSEMBL:ENSP00000478725","ENSEMBL:ENSP00000478725.1"]}
{"id":"UniProtKB:A0AAG2SXN7","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0AAG2SXN7_HUMAN Proline dehydrogenase (trembl)","equivalent_identifiers":["UniProtKB:A0AAG2SXN7","ENSEMBL:ENSP00000481127","ENSEMBL:ENSP00000481127.1"]}
{"id":"UniProtKB:A0AAG2SXZ4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0AAG2SXZ4_HUMAN Ig-like domain-containing protein (trembl)","equivalent_identifiers":["UniProtKB:A0AAG2SXZ4","ENSEMBL:ENSP00000481152","ENSEMBL:ENSP00000481152.1"]}
{"id":"UniProtKB:A0AAG2SYH1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0AAG2SYH1_HUMAN POM121-like protein 1 (trembl)","equivalent_identifiers":["UniProtKB:A0AAG2SYH1","ENSEMBL:ENSP00000481613","ENSEMBL:ENSP00000481613.1"]}
{"id":"UniProtKB:A0AAK2S2Q9","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0AAK2S2Q9_HUMAN Nuclear pore complex interacting protein family member B9 (trembl)","equivalent_identifiers":["UniProtKB:A0AAK2S2Q9","ENSEMBL:ENSP00000446902","ENSEMBL:ENSP00000446902.2"]}
{"id":"UniProtKB:A0AB56DNF6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A0AB56DNF6_HUMAN PR domain zinc finger protein 15 (trembl)","equivalent_identifiers":["UniProtKB:A0AB56DNF6","ENSEMBL:ENSP00000269844","ENSEMBL:ENSP00000269844.4"]}
{"id":"UniProtKB:A0AUZ9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"KAT8 regulatory NSL complex subunit 1-like protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:A0AUZ9-1","PR:A0AUZ9-1","ENSEMBL:ENSP00000281772","ENSEMBL:ENSP00000281772.8"],"information_content":100.0}
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{"id":"UniProtKB:A2RU30-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein TESPA1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A2RU30-1","PR:A2RU30-1","ENSEMBL:ENSP00000312679","ENSEMBL:ENSP00000312679.8","ENSEMBL:ENSP00000400892","ENSEMBL:ENSP00000400892.1"],"information_content":100.0}
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{"id":"UniProtKB:A2RUB6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coiled-coil domain-containing protein 66 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A2RUB6-1","PR:A2RUB6-1","ENSEMBL:ENSP00000378167","ENSEMBL:ENSP00000378167.3"],"information_content":100.0}
{"id":"UniProtKB:A2RUC4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tRNA wybutosine-synthesizing protein 5 isoform 1 (human)","equivalent_identifiers":["UniProtKB:A2RUC4-1","PR:A2RUC4-1","ENSEMBL:ENSP00000346627","ENSEMBL:ENSP00000346627.4"],"information_content":100.0}
{"id":"UniProtKB:A2RUH7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"myosin-binding protein H-like isoform h1 (human)","equivalent_identifiers":["UniProtKB:A2RUH7-1","PR:A2RUH7-1","ENSEMBL:ENSP00000349678","ENSEMBL:ENSP00000349678.1"],"information_content":100.0}
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{"id":"UniProtKB:A3KMH1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"von Willebrand factor A domain-containing protein 8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A3KMH1-1","PR:A3KMH1-1","ENSEMBL:ENSP00000368612","ENSEMBL:ENSP00000368612.3"],"information_content":100.0}
{"id":"UniProtKB:A3KN83-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein strawberry notch homolog 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A3KN83-1","PR:A3KN83-1","ENSEMBL:ENSP00000387361","ENSEMBL:ENSP00000387361.2","ENSEMBL:ENSP00000473665","ENSEMBL:ENSP00000473665.1"],"information_content":100.0}
{"id":"UniProtKB:A4D0S4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"laminin subunit beta-4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A4D0S4-1","PR:A4D0S4-1","ENSEMBL:ENSP00000205386","ENSEMBL:ENSP00000205386.4","ENSEMBL:ENSP00000373433","ENSEMBL:ENSP00000373433.3"],"information_content":100.0}
{"id":"UniProtKB:A4D0V7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cadherin-like and PC-esterase domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A4D0V7-1","PR:A4D0V7-1","ENSEMBL:ENSP00000309772","ENSEMBL:ENSP00000309772.5"],"information_content":100.0}
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{"id":"UniProtKB:A4D1B5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"gamma-secretase-activating protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:A4D1B5-1","PR:A4D1B5-1","ENSEMBL:ENSP00000257626","ENSEMBL:ENSP00000257626.7"],"information_content":100.0}
{"id":"UniProtKB:A4D1E9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GTP-binding protein 10 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A4D1E9-1","PR:A4D1E9-1","ENSEMBL:ENSP00000222511","ENSEMBL:ENSP00000222511.7"],"information_content":100.0}
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{"id":"UniProtKB:A6NC86-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein isoform h2 (human)","equivalent_identifiers":["UniProtKB:A6NC86-2","PR:A6NC86-2","ENSEMBL:ENSP00000479240","ENSEMBL:ENSP00000479240.1"],"information_content":100.0}
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{"id":"UniProtKB:A6ND36-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein FAM83G isoform h1 (human)","equivalent_identifiers":["UniProtKB:A6ND36-1","PR:A6ND36-1","ENSEMBL:ENSP00000373647","ENSEMBL:ENSP00000373647.5"],"information_content":100.0}
{"id":"UniProtKB:A6ND91-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"aspartate dehydrogenase domain-containing protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:A6ND91-1","PR:A6ND91-1","ENSEMBL:ENSP00000373860","ENSEMBL:ENSP00000373860.3"],"information_content":100.0}
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{"id":"UniProtKB:A6NDY0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"embryonic polyadenylate-binding protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A6NDY0-1","PR:A6NDY0-1","ENSEMBL:ENSP00000408598","ENSEMBL:ENSP00000408598.2"],"information_content":100.0}
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{"id":"UniProtKB:A6NH21-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine incorporator 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A6NH21-1","PR:A6NH21-1","ENSEMBL:ENSP00000319796","ENSEMBL:ENSP00000319796.6"],"information_content":100.0}
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{"id":"UniProtKB:A6NMZ7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"collagen alpha-6(VI) chain isoform h1 (human)","equivalent_identifiers":["UniProtKB:A6NMZ7-1","PR:A6NMZ7-1","ENSEMBL:ENSP00000351310","ENSEMBL:ENSP00000351310.6"],"information_content":100.0}
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{"id":"UniProtKB:A7KAX9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Rho GTPase-activating protein 32 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A7KAX9-1","PR:A7KAX9-1","ENSEMBL:ENSP00000310561","ENSEMBL:ENSP00000310561.8"],"information_content":100.0}
{"id":"UniProtKB:A7MCY6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"TANK-binding kinase 1-binding protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A7MCY6-1","PR:A7MCY6-1","ENSEMBL:ENSP00000354777","ENSEMBL:ENSP00000354777.3","ENSEMBL:ENSP00000462339","ENSEMBL:ENSP00000462339.2"],"information_content":100.0}
{"id":"UniProtKB:A8CG34-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nuclear envelope pore membrane protein POM 121C isoform h2 (human)","equivalent_identifiers":["UniProtKB:A8CG34-2","PR:A8CG34-2","ENSEMBL:ENSP00000481575","ENSEMBL:ENSP00000481575.1"],"information_content":100.0}
{"id":"UniProtKB:A8K2U0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"alpha-2-macroglobulin-like protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A8K2U0-1","PR:A8K2U0-1","ENSEMBL:ENSP00000299698","ENSEMBL:ENSP00000299698.7"],"information_content":100.0}
{"id":"UniProtKB:A8K830-5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"POU class 2 homeobox associating factor 3 isoform h5 (human)","equivalent_identifiers":["UniProtKB:A8K830-5","PR:A8K830-5","ENSEMBL:ENSP00000484135","ENSEMBL:ENSP00000484135.1"],"information_content":100.0}
{"id":"UniProtKB:A8K855-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"EF-hand calcium-binding domain-containing protein 7 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A8K855-1","PR:A8K855-1","ENSEMBL:ENSP00000360129","ENSEMBL:ENSP00000360129.4"],"information_content":100.0}
{"id":"UniProtKB:A8K8P3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein SFI1 homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:A8K8P3-1","PR:A8K8P3-1","ENSEMBL:ENSP00000383145","ENSEMBL:ENSP00000383145.2"],"information_content":100.0}
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{"id":"UniProtKB:A8MQT2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"golgin subfamily A member 8B isoform h1 (human)","equivalent_identifiers":["UniProtKB:A8MQT2-1","PR:A8MQT2-1","ENSEMBL:ENSP00000343064","ENSEMBL:ENSP00000343064.5","ENSEMBL:ENSP00000507830","ENSEMBL:ENSP00000507830.1"],"information_content":100.0}
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{"id":"UniProtKB:A8MV65-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transcription cofactor vestigial-like protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:A8MV65-1","PR:A8MV65-1","ENSEMBL:ENSP00000381436","ENSEMBL:ENSP00000381436.2"],"information_content":100.0}
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{"id":"UniProtKB:A8MYA2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"CX049_HUMAN Uncharacterized protein CXorf49 (sprot)","equivalent_identifiers":["UniProtKB:A8MYA2","PR:A8MYA2","ENSEMBL:ENSP00000480355","ENSEMBL:ENSP00000480355.1","ENSEMBL:ENSP00000482270","ENSEMBL:ENSP00000482270.1"],"information_content":100.0}
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{"id":"UniProtKB:A8MZ59-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"paired-like homeodomain transcription factor LEUTX isoform h2 (human)","equivalent_identifiers":["UniProtKB:A8MZ59-1","PR:A8MZ59-1","ENSEMBL:ENSP00000380053","ENSEMBL:ENSP00000380053.3","ENSEMBL:ENSP00000486698","ENSEMBL:ENSP00000486698.1"],"information_content":100.0}
{"id":"UniProtKB:A9UHW6-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"MIF4G domain-containing protein isoform h3 (human)","equivalent_identifiers":["UniProtKB:A9UHW6-3","PR:A9UHW6-3","ENSEMBL:ENSP00000462459","ENSEMBL:ENSP00000462459.1","ENSEMBL:ENSP00000462655","ENSEMBL:ENSP00000462655.2","ENSEMBL:ENSP00000463334","ENSEMBL:ENSP00000463334.1"],"information_content":100.0}
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{"id":"UniProtKB:B2RUY7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"von Willebrand factor C domain-containing protein 2-like isoform 1 (human)","equivalent_identifiers":["UniProtKB:B2RUY7-1","PR:B2RUY7-1","ENSEMBL:ENSP00000308976","ENSEMBL:ENSP00000308976.5"],"information_content":100.0}
{"id":"UniProtKB:B3EWG3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FM25A_HUMAN Protein FAM25A (sprot)","equivalent_identifiers":["UniProtKB:B3EWG3","PR:B3EWG3","ENSEMBL:ENSP00000342790","ENSEMBL:ENSP00000342790.4"],"information_content":100.0}
{"id":"UniProtKB:B3EWG5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FM25C_HUMAN Protein FAM25C (sprot)","equivalent_identifiers":["UniProtKB:B3EWG5","PR:B3EWG5","ENSEMBL:ENSP00000485370","ENSEMBL:ENSP00000485370.1","ENSEMBL:ENSP00000500536","ENSEMBL:ENSP00000500536.1"],"information_content":95.4}
{"id":"UniProtKB:B3KSP9","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"B3KSP9_HUMAN Alanyl-tRNA editing protein Aarsd1 (trembl)","equivalent_identifiers":["UniProtKB:B3KSP9","ENSEMBL:ENSP00000386621","ENSEMBL:ENSP00000386621.2","ENSEMBL:ENSP00000409924","ENSEMBL:ENSP00000409924.2"]}
{"id":"UniProtKB:B3KU38-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"IQCJ-SCHIP1 readthrough transcript protein isoform 1 (human)","equivalent_identifiers":["UniProtKB:B3KU38-1","PR:B3KU38-1","ENSEMBL:ENSP00000420182","ENSEMBL:ENSP00000420182.1"],"information_content":100.0}
{"id":"UniProtKB:B3KWA1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"B3KWA1_HUMAN Iduronate 2-sulfatase (Hunter syndrome), isoform CRA_e (trembl)","equivalent_identifiers":["UniProtKB:B3KWA1","ENSEMBL:ENSP00000477056","ENSEMBL:ENSP00000477056.1","ENSEMBL:ENSP00000498395","ENSEMBL:ENSP00000498395.1"]}
{"id":"UniProtKB:B4DH59-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NBPF family member NBPF26 isoform h1 (human)","equivalent_identifiers":["UniProtKB:B4DH59-1","PR:B4DH59-1","ENSEMBL:ENSP00000481542","ENSEMBL:ENSP00000481542.4"],"information_content":100.0}
{"id":"UniProtKB:B4DLN1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"B4DLN1_HUMAN Mitochondrial dicarboxylate carrier (trembl)","equivalent_identifiers":["UniProtKB:B4DLN1","ENSEMBL:ENSP00000461324","ENSEMBL:ENSP00000461324.1"]}
{"id":"UniProtKB:B4DS77-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein shisa-9 isoform 1 (human)","equivalent_identifiers":["UniProtKB:B4DS77-1","PR:B4DS77-1","ENSEMBL:ENSP00000454014","ENSEMBL:ENSP00000454014.2"],"information_content":100.0}
{"id":"UniProtKB:B4E171","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"B4E171_HUMAN Tetraspanin-7 (trembl)","equivalent_identifiers":["UniProtKB:B4E171","ENSEMBL:ENSP00000417050","ENSEMBL:ENSP00000417050.1"]}
{"id":"UniProtKB:B5MCP8","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"B5MCP8_HUMAN GATA-type zinc finger protein 1 (trembl)","equivalent_identifiers":["UniProtKB:B5MCP8","ENSEMBL:ENSP00000384434","ENSEMBL:ENSP00000384434.4","ENSEMBL:ENSP00000385403","ENSEMBL:ENSP00000385403.1"]}
{"id":"UniProtKB:B6A8C7-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"T-cell-interacting, activating receptor on myeloid cells protein 1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:B6A8C7-2","PR:B6A8C7-2","ENSEMBL:ENSP00000484383","ENSEMBL:ENSP00000484383.1"],"information_content":100.0}
{"id":"UniProtKB:B7ZAQ6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Golgi pH regulator A isoform h1 (human)","equivalent_identifiers":["UniProtKB:B7ZAQ6-1","PR:B7ZAQ6-1","ENSEMBL:ENSP00000319673","ENSEMBL:ENSP00000319673.9"],"information_content":100.0}
{"id":"UniProtKB:B7ZVW6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"B7ZVW6_HUMAN FLJ42280 protein (trembl)","equivalent_identifiers":["UniProtKB:B7ZVW6","ENSEMBL:ENSP00000481021","ENSEMBL:ENSP00000481021.1"]}
{"id":"UniProtKB:B9A064-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"immunoglobulin lambda-like polypeptide 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:B9A064-1","PR:B9A064-1","ENSEMBL:ENSP00000431254","ENSEMBL:ENSP00000431254.1"],"information_content":100.0}
{"id":"UniProtKB:B9EJG8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 150C isoform 1 (human)","equivalent_identifiers":["UniProtKB:B9EJG8-1","PR:B9EJG8-1","ENSEMBL:ENSP00000403438","ENSEMBL:ENSP00000403438.2","ENSEMBL:ENSP00000420919","ENSEMBL:ENSP00000420919.1"],"information_content":100.0}
{"id":"UniProtKB:C9JH25-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"proline-rich transmembrane protein 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:C9JH25-1","PR:C9JH25-1","ENSEMBL:ENSP00000415026","ENSEMBL:ENSP00000415026.2","ENSEMBL:ENSP00000445239","ENSEMBL:ENSP00000445239.1"],"information_content":100.0}
{"id":"UniProtKB:C9JQI7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 232 isoform h2 (human)","equivalent_identifiers":["UniProtKB:C9JQI7-1","PR:C9JQI7-1","ENSEMBL:ENSP00000401477","ENSEMBL:ENSP00000401477.2"],"information_content":100.0}
{"id":"UniProtKB:C9JRZ8-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"aldo-keto reductase family 1 member B15 isoform h2 (human)","equivalent_identifiers":["UniProtKB:C9JRZ8-2","PR:C9JRZ8-2","ENSEMBL:ENSP00000389289","ENSEMBL:ENSP00000389289.1","ENSEMBL:ENSP00000397009","ENSEMBL:ENSP00000397009.2"],"information_content":100.0}
{"id":"UniProtKB:D6RBM5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"U17LN_HUMAN Ubiquitin carboxyl-terminal hydrolase 17-like protein 23 (Fragment) (sprot)","equivalent_identifiers":["UniProtKB:D6RBM5","ENSEMBL:ENSP00000424077","ENSEMBL:ENSP00000424077.2"]}
{"id":"UniProtKB:D6RE68","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"D6RE68_HUMAN Aryl hydrocarbon receptor repressor (trembl)","equivalent_identifiers":["UniProtKB:D6RE68","ENSEMBL:ENSP00000426932","ENSEMBL:ENSP00000426932.1"]}
{"id":"UniProtKB:E5RJM6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ankyrin repeat domain-containing protein 65 isoform h1 (human)","equivalent_identifiers":["UniProtKB:E5RJM6-1","PR:E5RJM6-1","ENSEMBL:ENSP00000445688","ENSEMBL:ENSP00000445688.1","ENSEMBL:ENSP00000482314","ENSEMBL:ENSP00000482314.1"],"information_content":100.0}
{"id":"UniProtKB:E7ENG2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E7ENG2_HUMAN Cytoplasmic linker associated protein 2 (trembl)","equivalent_identifiers":["UniProtKB:E7ENG2","ENSEMBL:ENSP00000327760","ENSEMBL:ENSP00000327760.6"]}
{"id":"UniProtKB:E7ET48","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E7ET48_HUMAN Crystallin beta-gamma domain containing 2 (trembl)","equivalent_identifiers":["UniProtKB:E7ET48","ENSEMBL:ENSP00000428746","ENSEMBL:ENSP00000428746.2"]}
{"id":"UniProtKB:E9PIW9","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E9PIW9_HUMAN Sterile alpha motif domain containing 1 (trembl)","equivalent_identifiers":["UniProtKB:E9PIW9","ENSEMBL:ENSP00000431971","ENSEMBL:ENSP00000431971.2"]}
{"id":"UniProtKB:E9PJI5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NPIA7_HUMAN Nuclear pore complex-interacting protein family member A7 (sprot)","equivalent_identifiers":["UniProtKB:E9PJI5","PR:E9PJI5","ENSEMBL:ENSP00000431814","ENSEMBL:ENSP00000431814.2","ENSEMBL:ENSP00000479584","ENSEMBL:ENSP00000479584.1"],"information_content":100.0}
{"id":"UniProtKB:E9PKD4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nuclear pore complex-interacting protein family member A5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:E9PKD4-1","PR:E9PKD4-1","ENSEMBL:ENSP00000433597","ENSEMBL:ENSP00000433597.1"],"information_content":100.0}
{"id":"UniProtKB:E9PMD0","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E9PMD0_HUMAN Uncharacterized protein (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:E9PMD0","ENSEMBL:ENSP00000431165","ENSEMBL:ENSP00000431165.1"]}
{"id":"UniProtKB:F2Z2I4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F2Z2I4_HUMAN Testis specific protein Y-linked 10 (trembl)","equivalent_identifiers":["UniProtKB:F2Z2I4","ENSEMBL:ENSP00000397151","ENSEMBL:ENSP00000397151.1","ENSEMBL:ENSP00000412988","ENSEMBL:ENSP00000412988.1"]}
{"id":"UniProtKB:F5H423","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F5H423_HUMAN ADP-ribosylation factor 3 (trembl)","equivalent_identifiers":["UniProtKB:F5H423","ENSEMBL:ENSP00000438507","ENSEMBL:ENSP00000438507.1"]}
{"id":"UniProtKB:F5H5P2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F5H5P2_HUMAN 2-oxoisovalerate dehydrogenase subunit alpha (trembl)","equivalent_identifiers":["UniProtKB:F5H5P2","ENSEMBL:ENSP00000443246","ENSEMBL:ENSP00000443246.1"]}
{"id":"UniProtKB:F5H5T6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F5H5T6_HUMAN Succinate dehydrogenase assembly factor 2, mitochondrial (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:F5H5T6","ENSEMBL:ENSP00000443130","ENSEMBL:ENSP00000443130.1"]}
{"id":"UniProtKB:F5H6K3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F5H6K3_HUMAN C-type lectin domain-containing protein (trembl)","equivalent_identifiers":["UniProtKB:F5H6K3","ENSEMBL:ENSP00000437563","ENSEMBL:ENSP00000437563.1"]}
{"id":"UniProtKB:F8W8F9","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F8W8F9_HUMAN Dynein axonemal intermediate chain 7 (trembl)","equivalent_identifiers":["UniProtKB:F8W8F9","ENSEMBL:ENSP00000379310","ENSEMBL:ENSP00000379310.3"]}
{"id":"UniProtKB:F8WA42","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F8WA42_HUMAN Sulfatase modifying factor 2 (trembl)","equivalent_identifiers":["UniProtKB:F8WA42","ENSEMBL:ENSP00000498402","ENSEMBL:ENSP00000498402.1"]}
{"id":"UniProtKB:F8WCM5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ENSP00000380440","equivalent_identifiers":["UniProtKB:F8WCM5-1","ENSEMBL:ENSP00000348986","ENSEMBL:ENSP00000348986.4","ENSEMBL:ENSP00000380440","ENSEMBL:ENSP00000380440.1"]}
{"id":"UniProtKB:F8WEQ3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F8WEQ3_HUMAN SH3 domain-binding protein 1 (trembl)","equivalent_identifiers":["UniProtKB:F8WEQ3","ENSEMBL:ENSP00000401076"]}
{"id":"UniProtKB:H0Y626","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"H0Y626_HUMAN RING-type E3 ubiquitin transferase (trembl)","equivalent_identifiers":["UniProtKB:H0Y626","ENSEMBL:ENSP00000402644","ENSEMBL:ENSP00000402644.2"]}
{"id":"UniProtKB:H0YHG0","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"H0YHG0_HUMAN DnaJ homolog subfamily C member 14 (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:H0YHG0","ENSEMBL:ENSP00000447000","ENSEMBL:ENSP00000447000.1"]}
{"id":"UniProtKB:H0YJW9","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"H0YJW9_HUMAN Uncharacterized protein (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:H0YJW9","ENSEMBL:ENSP00000452347","ENSEMBL:ENSP00000452347.3"]}
{"id":"UniProtKB:H0YL38","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"H0YL38_HUMAN C2H2-type domain-containing protein (trembl)","equivalent_identifiers":["UniProtKB:H0YL38","ENSEMBL:ENSP00000453045","ENSEMBL:ENSP00000453045.1"]}
{"id":"UniProtKB:H3BMD7","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"H3BMD7_HUMAN Uncharacterized protein (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:H3BMD7","ENSEMBL:ENSP00000454340","ENSEMBL:ENSP00000454340.1","ENSEMBL:ENSP00000488150","ENSEMBL:ENSP00000488150.1"]}
{"id":"UniProtKB:H3BPG6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"H3BPG6_HUMAN RING-type E3 ubiquitin transferase (trembl)","equivalent_identifiers":["UniProtKB:H3BPG6","ENSEMBL:ENSP00000455308","ENSEMBL:ENSP00000455308.2"]}
{"id":"UniProtKB:H3BQ15","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"H3BQ15_HUMAN N-acetylglucosamine-6-phosphate deacetylase (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:H3BQ15","ENSEMBL:ENSP00000455561","ENSEMBL:ENSP00000455561.1"]}
{"id":"UniProtKB:H3BTG2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"testis-expressed protein 46 isoform h1 (human)","equivalent_identifiers":["UniProtKB:H3BTG2-1","PR:H3BTG2-1","ENSEMBL:ENSP00000457161","ENSEMBL:ENSP00000457161.1"],"information_content":100.0}
{"id":"UniProtKB:H3BUI4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"H3BUI4_HUMAN Transmembrane protein 170A (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:H3BUI4","ENSEMBL:ENSP00000457654","ENSEMBL:ENSP00000457654.1"]}
{"id":"UniProtKB:H7C1H1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"H7C1H1_HUMAN Major facilitator superfamily (MFS) profile domain-containing protein (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:H7C1H1","ENSEMBL:ENSP00000400325","ENSEMBL:ENSP00000400325.3","ENSEMBL:ENSP00000487472","ENSEMBL:ENSP00000487472.1"]}
{"id":"UniProtKB:I3L0I5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"I3L0I5_HUMAN Nuclear pore complex interacting protein family member B7 (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:I3L0I5","ENSEMBL:ENSP00000415207","ENSEMBL:ENSP00000415207.4"]}
{"id":"UniProtKB:I6L899-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"golgin subfamily A member 8R isoform h1 (human)","equivalent_identifiers":["UniProtKB:I6L899-1","PR:I6L899-1","ENSEMBL:ENSP00000323217","ENSEMBL:ENSP00000323217.10"],"information_content":100.0}
{"id":"UniProtKB:J3KMZ3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"J3KMZ3_HUMAN Phospholipase A2 (trembl)","equivalent_identifiers":["UniProtKB:J3KMZ3","ENSEMBL:ENSP00000247992","ENSEMBL:ENSP00000247992.5"]}
{"id":"UniProtKB:J3KN16","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"J3KN16_HUMAN Proteasome adapter and scaffold protein ECM29 (trembl)","equivalent_identifiers":["UniProtKB:J3KN16","ENSEMBL:ENSP00000259335","ENSEMBL:ENSP00000259335.4"]}
{"id":"UniProtKB:J3KPF0","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"J3KPF0_HUMAN HECT domain E3 ubiquitin protein ligase 4 (trembl)","equivalent_identifiers":["UniProtKB:J3KPF0","ENSEMBL:ENSP00000366783","ENSEMBL:ENSP00000366783.7"]}
{"id":"UniProtKB:J3QRE1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"J3QRE1_HUMAN Nonsense-mediated mRNA decay factor SMG8 (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:J3QRE1","ENSEMBL:ENSP00000464167","ENSEMBL:ENSP00000464167.1"]}
{"id":"UniProtKB:K7ELM3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"K7ELM3_HUMAN Chorionic gonadotropin subunit beta 1 (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:K7ELM3","ENSEMBL:ENSP00000466140","ENSEMBL:ENSP00000466140.1","ENSEMBL:ENSP00000472896","ENSEMBL:ENSP00000472896.2"]}
{"id":"UniProtKB:K7EN88","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"K7EN88_HUMAN HCG2039718, isoform CRA_g (trembl)","equivalent_identifiers":["UniProtKB:K7EN88","ENSEMBL:ENSP00000466834","ENSEMBL:ENSP00000466834.1"]}
{"id":"UniProtKB:K7ENP7","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"K7ENP7_HUMAN INO80 complex subunit C (trembl)","equivalent_identifiers":["UniProtKB:K7ENP7","ENSEMBL:ENSP00000467041","ENSEMBL:ENSP00000467041.1"]}
{"id":"UniProtKB:K7N7A8","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"K7N7A8_HUMAN Ubiquitin carboxyl-terminal hydrolase MINDY (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:K7N7A8","ENSEMBL:ENSP00000421315","ENSEMBL:ENSP00000421315.2"]}
{"id":"UniProtKB:L0R819-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ENSP00000475224","equivalent_identifiers":["UniProtKB:L0R819-1","ENSEMBL:ENSP00000475224","ENSEMBL:ENSP00000475224.1"]}
{"id":"UniProtKB:M0QYT0","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"M0QYT0_HUMAN RRM domain-containing protein (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:M0QYT0","ENSEMBL:ENSP00000470059","ENSEMBL:ENSP00000470059.1","ENSEMBL:ENSP00000489028","ENSEMBL:ENSP00000489028.1"]}
{"id":"UniProtKB:M0QYU9","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"M0QYU9_HUMAN Small integral membrane protein 7 (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:M0QYU9","ENSEMBL:ENSP00000470086","ENSEMBL:ENSP00000470086.1"]}
{"id":"UniProtKB:M0QYV0","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"M0QYV0_HUMAN Protein kinase domain-containing protein (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:M0QYV0","ENSEMBL:ENSP00000470087","ENSEMBL:ENSP00000470087.1"]}
{"id":"UniProtKB:M0QZ92","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"M0QZ92_HUMAN SEC7 domain-containing protein (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:M0QZ92","ENSEMBL:ENSP00000470383","ENSEMBL:ENSP00000470383.1"]}
{"id":"UniProtKB:M0QZK8","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"M0QZK8_HUMAN gamma-glutamylcyclotransferase (trembl)","equivalent_identifiers":["UniProtKB:M0QZK8","ENSEMBL:ENSP00000470615","ENSEMBL:ENSP00000470615.1"]}
{"id":"UniProtKB:M0R036","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"M0R036_HUMAN KRAB domain-containing protein (trembl)","equivalent_identifiers":["UniProtKB:M0R036","ENSEMBL:ENSP00000470969","ENSEMBL:ENSP00000470969.1"]}
{"id":"UniProtKB:M0R135","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"M0R135_HUMAN KRAB domain-containing protein (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:M0R135","ENSEMBL:ENSP00000471613","ENSEMBL:ENSP00000471613.1"]}
{"id":"UniProtKB:M0R2C6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"M0R2C6_HUMAN serine--tRNA ligase (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:M0R2C6","ENSEMBL:ENSP00000472465","ENSEMBL:ENSP00000472465.1","ENSEMBL:ENSP00000488961","ENSEMBL:ENSP00000488961.1"]}
{"id":"UniProtKB:N0E472","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"N0E472_HUMAN Casein kinase II subunit beta (trembl)","equivalent_identifiers":["UniProtKB:N0E472","ENSEMBL:ENSP00000477860","ENSEMBL:ENSP00000477860.1","ENSEMBL:ENSP00000479902","ENSEMBL:ENSP00000479902.1","ENSEMBL:ENSP00000480237","ENSEMBL:ENSP00000480237.1","ENSEMBL:ENSP00000483938","ENSEMBL:ENSP00000483938.1","ENSEMBL:ENSP00000483989","ENSEMBL:ENSP00000483989.2"]}
{"id":"UniProtKB:O00115-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"deoxyribonuclease-2-alpha isoform h1 (human)","equivalent_identifiers":["UniProtKB:O00115-1","PR:O00115-1","ENSEMBL:ENSP00000222219","ENSEMBL:ENSP00000222219.2"],"information_content":100.0}
{"id":"UniProtKB:O00139-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kinesin-like protein KIF2A isoform h4 (human)","equivalent_identifiers":["UniProtKB:O00139-4","PR:O00139-4","ENSEMBL:ENSP00000385000","ENSEMBL:ENSP00000385000.3"],"information_content":100.0}
{"id":"UniProtKB:O00141-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine/threonine-protein kinase Sgk1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O00141-2","PR:O00141-2","ENSEMBL:ENSP00000356832","ENSEMBL:ENSP00000356832.5"],"information_content":100.0}
{"id":"UniProtKB:O00148-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATP-dependent RNA helicase DDX39A isoform 1 (human)","equivalent_identifiers":["UniProtKB:O00148-1","PR:O00148-1","ENSEMBL:ENSP00000242776","ENSEMBL:ENSP00000242776.3"],"information_content":100.0}
{"id":"UniProtKB:O00154-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytosolic acyl coenzyme A thioester hydrolase isoform h1 (human)","equivalent_identifiers":["UniProtKB:O00154-1","PR:O00154-1","ENSEMBL:ENSP00000367086","ENSEMBL:ENSP00000367086.2"],"information_content":100.0}
{"id":"UniProtKB:O00159-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"unconventional myosin-Ic isoform 1 (human)","equivalent_identifiers":["UniProtKB:O00159-1","PR:O00159-1","ENSEMBL:ENSP00000496954","ENSEMBL:ENSP00000496954.1"],"information_content":100.0}
{"id":"UniProtKB:O00161-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"synaptosomal-associated protein 23 isoform hSNAP-23a (human)","equivalent_identifiers":["UniProtKB:O00161-1","PR:O00161-1","ENSEMBL:ENSP00000249647","ENSEMBL:ENSP00000249647.3"],"information_content":100.0}
{"id":"UniProtKB:O00165-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"HCLS1-associated protein X-1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O00165-1","PR:O00165-1","ENSEMBL:ENSP00000329002","ENSEMBL:ENSP00000329002.7","ENSEMBL:ENSP00000512979","ENSEMBL:ENSP00000512979.1"],"information_content":100.0}
{"id":"UniProtKB:O00167-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein phosphatase EYA2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O00167-1","PR:O00167-1","ENSEMBL:ENSP00000333640","ENSEMBL:ENSP00000333640.5"],"information_content":100.0}
{"id":"UniProtKB:O00182-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"galectin-9 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O00182-1","PR:O00182-1","ENSEMBL:ENSP00000378856","ENSEMBL:ENSP00000378856.2"],"information_content":100.0}
{"id":"UniProtKB:O00187-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mannan-binding lectin serine protease 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O00187-1","PR:O00187-1","ENSEMBL:ENSP00000383690","ENSEMBL:ENSP00000383690.3"],"information_content":95.4}
{"id":"UniProtKB:O00192-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"splicing regulator ARVCF isoform Long (human)","equivalent_identifiers":["UniProtKB:O00192-1","PR:O00192-1","ENSEMBL:ENSP00000263207","ENSEMBL:ENSP00000263207.3"],"information_content":100.0}
{"id":"UniProtKB:O00203-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"AP-3 complex subunit beta-1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O00203-1","PR:O00203-1","ENSEMBL:ENSP00000255194","ENSEMBL:ENSP00000255194.7"],"information_content":100.0}
{"id":"UniProtKB:O00204-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sulfotransferase 2B1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O00204-1","PR:O00204-1","ENSEMBL:ENSP00000201586","ENSEMBL:ENSP00000201586.2"],"information_content":100.0}
{"id":"UniProtKB:O00206-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Toll-like receptor 4 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O00206-1","PR:O00206-1","ENSEMBL:ENSP00000363089","ENSEMBL:ENSP00000363089.5"],"information_content":87.2}
{"id":"UniProtKB:O00213-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"amyloid beta precursor protein binding family B member 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O00213-1","PR:O00213-1","ENSEMBL:ENSP00000477213","ENSEMBL:ENSP00000477213.1"],"information_content":100.0}
{"id":"UniProtKB:O00214-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"galectin-8 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O00214-2","PR:O00214-2","ENSEMBL:ENSP00000309576","ENSEMBL:ENSP00000309576.2","ENSEMBL:ENSP00000408657","ENSEMBL:ENSP00000408657.2","ENSEMBL:ENSP00000431398","ENSEMBL:ENSP00000431398.1","ENSEMBL:ENSP00000435460","ENSEMBL:ENSP00000435460.1"],"information_content":100.0}
{"id":"UniProtKB:O00219-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"hyaluronan synthase 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O00219-1","PR:O00219-1","ENSEMBL:ENSP00000304440","ENSEMBL:ENSP00000304440.1","ENSEMBL:ENSP00000454731","ENSEMBL:ENSP00000454731.1"],"information_content":100.0}
{"id":"UniProtKB:O00222-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"metabotropic glutamate receptor 8 isoform B (human)","equivalent_identifiers":["UniProtKB:O00222-2","PR:O00222-2","ENSEMBL:ENSP00000351142","ENSEMBL:ENSP00000351142.3","ENSEMBL:ENSP00000419832","ENSEMBL:ENSP00000419832.1","ENSEMBL:ENSP00000516624","ENSEMBL:ENSP00000516624.1"],"information_content":100.0}
{"id":"UniProtKB:O00231-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"26S proteasome non-ATPase regulatory subunit 11 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O00231-1","PR:O00231-1","ENSEMBL:ENSP00000261712","ENSEMBL:ENSP00000261712.3","ENSEMBL:ENSP00000393185","ENSEMBL:ENSP00000393185.2","ENSEMBL:ENSP00000497128","ENSEMBL:ENSP00000497128.1"],"information_content":100.0}
{"id":"UniProtKB:O00232-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"26S proteasome non-ATPase regulatory subunit 12 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O00232-1","PR:O00232-1","ENSEMBL:ENSP00000348442","ENSEMBL:ENSP00000348442.3"],"information_content":100.0}
{"id":"UniProtKB:O00233-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"26S proteasome non-ATPase regulatory subunit 9 isoform hp27-L (human)","equivalent_identifiers":["UniProtKB:O00233-1","PR:O00233-1","ENSEMBL:ENSP00000440485","ENSEMBL:ENSP00000440485.1"],"information_content":100.0}
{"id":"UniProtKB:O00238-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"bone morphogenetic protein receptor type-1B isoform h2 (human)","equivalent_identifiers":["UniProtKB:O00238-2","PR:O00238-2","ENSEMBL:ENSP00000401907","ENSEMBL:ENSP00000401907.2"],"information_content":100.0}
{"id":"UniProtKB:O00241-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"signal-regulatory protein beta-1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O00241-1","PR:O00241-1","ENSEMBL:ENSP00000371018","ENSEMBL:ENSP00000371018.5"],"information_content":100.0}
{"id":"UniProtKB:O00254-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"proteinase-activated receptor 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O00254-1","PR:O00254-1","ENSEMBL:ENSP00000296641","ENSEMBL:ENSP00000296641.3"],"information_content":100.0}
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{"id":"UniProtKB:O14519-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cyclin-dependent kinase 2-associated protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14519-1","PR:O14519-1","ENSEMBL:ENSP00000261692","ENSEMBL:ENSP00000261692.2"],"information_content":100.0}
{"id":"UniProtKB:O14520-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"aquaporin-7 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14520-1","PR:O14520-1","ENSEMBL:ENSP00000297988","ENSEMBL:ENSP00000297988.1"],"information_content":100.0}
{"id":"UniProtKB:O14521-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14521-1","PR:O14521-1","ENSEMBL:ENSP00000364699","ENSEMBL:ENSP00000364699.3"],"information_content":100.0}
{"id":"UniProtKB:O14523-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phospholipid transfer protein C2CD2L isoform h2 (human)","equivalent_identifiers":["UniProtKB:O14523-2","PR:O14523-2","ENSEMBL:ENSP00000338885","ENSEMBL:ENSP00000338885.3"],"information_content":100.0}
{"id":"UniProtKB:O14524-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nuclear envelope integral membrane protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14524-1","PR:O14524-1","ENSEMBL:ENSP00000300128","ENSEMBL:ENSP00000300128.4"],"information_content":100.0}
{"id":"UniProtKB:O14525-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"astrotactin-1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14525-2","PR:O14525-2","ENSEMBL:ENSP00000354536","ENSEMBL:ENSP00000354536.2"],"information_content":100.0}
{"id":"UniProtKB:O14530-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"thioredoxin domain-containing protein 9 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14530-1","PR:O14530-1","ENSEMBL:ENSP00000264255","ENSEMBL:ENSP00000264255.3"],"information_content":100.0}
{"id":"UniProtKB:O14559-11","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Rho GTPase-activating protein 33 isoform h3 (human)","equivalent_identifiers":["UniProtKB:O14559-11","PR:O14559-11","ENSEMBL:ENSP00000320038","ENSEMBL:ENSP00000320038.4"],"information_content":100.0}
{"id":"UniProtKB:O14576-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytoplasmic dynein 1 intermediate chain 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14576-1","PR:O14576-1","ENSEMBL:ENSP00000320130","ENSEMBL:ENSP00000320130.6"],"information_content":100.0}
{"id":"UniProtKB:O14578-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"citron Rho-interacting kinase isoform h4 (human)","equivalent_identifiers":["UniProtKB:O14578-4","PR:O14578-4","ENSEMBL:ENSP00000376306","ENSEMBL:ENSP00000376306.2"],"information_content":100.0}
{"id":"UniProtKB:O14593-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DNA-binding protein RFXANK isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14593-1","PR:O14593-1","ENSEMBL:ENSP00000305071","ENSEMBL:ENSP00000305071.2","ENSEMBL:ENSP00000384572","ENSEMBL:ENSP00000384572.3"],"information_content":100.0}
{"id":"UniProtKB:O14598","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"VCY1_HUMAN Testis-specific basic protein Y 1 (sprot)","equivalent_identifiers":["UniProtKB:O14598","PR:O14598","ENSEMBL:ENSP00000250823","ENSEMBL:ENSP00000250823.4","ENSEMBL:ENSP00000250825","ENSEMBL:ENSP00000250825.4"],"information_content":100.0}
{"id":"UniProtKB:O14599","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"VCY2_HUMAN Testis-specific basic protein Y 2 (sprot)","equivalent_identifiers":["UniProtKB:O14599","PR:O14599","ENSEMBL:ENSP00000329106","ENSEMBL:ENSP00000329106.3","ENSEMBL:ENSP00000371724","ENSEMBL:ENSP00000371724.1","ENSEMBL:ENSP00000371829","ENSEMBL:ENSP00000371829.1","ENSEMBL:ENSP00000372028","ENSEMBL:ENSP00000372028.1","ENSEMBL:ENSP00000480184","ENSEMBL:ENSP00000480184.1","ENSEMBL:ENSP00000480751","ENSEMBL:ENSP00000480751.1"],"information_content":100.0}
{"id":"UniProtKB:O14603-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"PTPN13-like protein, Y-linked isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14603-1","PR:O14603-1","ENSEMBL:ENSP00000302319","ENSEMBL:ENSP00000302319.1","ENSEMBL:ENSP00000303300","ENSEMBL:ENSP00000303300.1"],"information_content":100.0}
{"id":"UniProtKB:O14617-5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"AP-3 complex subunit delta-1 isoform h5 (human)","equivalent_identifiers":["UniProtKB:O14617-5","PR:O14617-5","ENSEMBL:ENSP00000495274","ENSEMBL:ENSP00000495274.2"],"information_content":100.0}
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{"id":"UniProtKB:O14640-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"segment polarity protein dishevelled homolog DVL-1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14640-1","PR:O14640-1","ENSEMBL:ENSP00000368166","ENSEMBL:ENSP00000368166.5"],"information_content":100.0}
{"id":"UniProtKB:O14646-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"chromodomain-helicase-DNA-binding protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14646-1","PR:O14646-1","ENSEMBL:ENSP00000483667","ENSEMBL:ENSP00000483667.1"],"information_content":100.0}
{"id":"UniProtKB:O14647-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"chromodomain-helicase-DNA-binding protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14647-1","PR:O14647-1","ENSEMBL:ENSP00000377747","ENSEMBL:ENSP00000377747.4"],"information_content":100.0}
{"id":"UniProtKB:O14656-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"torsin-1A isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14656-1","PR:O14656-1","ENSEMBL:ENSP00000345719","ENSEMBL:ENSP00000345719.4"],"information_content":100.0}
{"id":"UniProtKB:O14662-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"syntaxin-16 isoform B (human)","equivalent_identifiers":["UniProtKB:O14662-1","PR:O14662-1","ENSEMBL:ENSP00000360183","ENSEMBL:ENSP00000360183.4"],"information_content":100.0}
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{"id":"UniProtKB:O14681-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"etoposide-induced protein 2.4 homolog isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14681-1","PR:O14681-1","ENSEMBL:ENSP00000278903","ENSEMBL:ENSP00000278903.7","ENSEMBL:ENSP00000484510","ENSEMBL:ENSP00000484510.1"],"information_content":100.0}
{"id":"UniProtKB:O14682-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ectoderm-neural cortex protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14682-1","PR:O14682-1","ENSEMBL:ENSP00000306356","ENSEMBL:ENSP00000306356.4","ENSEMBL:ENSP00000479101","ENSEMBL:ENSP00000479101.1","ENSEMBL:ENSP00000499185","ENSEMBL:ENSP00000499185.1"],"information_content":100.0}
{"id":"UniProtKB:O14686-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"histone-lysine N-methyltransferase 2D isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14686-1","PR:O14686-1","ENSEMBL:ENSP00000301067","ENSEMBL:ENSP00000301067.7"],"information_content":100.0}
{"id":"UniProtKB:O14713-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"integrin beta-1-binding protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14713-1","PR:O14713-1","ENSEMBL:ENSP00000347504","ENSEMBL:ENSP00000347504.4","ENSEMBL:ENSP00000353850","ENSEMBL:ENSP00000353850.3"],"information_content":100.0}
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{"id":"UniProtKB:O14730-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine/threonine-protein kinase RIO3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14730-1","PR:O14730-1","ENSEMBL:ENSP00000341874","ENSEMBL:ENSP00000341874.3"],"information_content":100.0}
{"id":"UniProtKB:O14732-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"inositol monophosphatase 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14732-1","PR:O14732-1","ENSEMBL:ENSP00000269159","ENSEMBL:ENSP00000269159.3"],"information_content":100.0}
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{"id":"UniProtKB:O14735-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"CDP-diacylglycerol--inositol 3-phosphatidyltransferase isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14735-1","PR:O14735-1","ENSEMBL:ENSP00000219789","ENSEMBL:ENSP00000219789.6","ENSEMBL:ENSP00000454453","ENSEMBL:ENSP00000454453.1","ENSEMBL:ENSP00000457339","ENSEMBL:ENSP00000457339.1"],"information_content":100.0}
{"id":"UniProtKB:O14737-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"programmed cell death protein 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14737-1","PR:O14737-1","ENSEMBL:ENSP00000466214","ENSEMBL:ENSP00000466214.1"],"information_content":100.0}
{"id":"UniProtKB:O14744-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein arginine N-methyltransferase 5 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14744-1","PR:O14744-1","ENSEMBL:ENSP00000319169","ENSEMBL:ENSP00000319169.8"],"information_content":100.0}
{"id":"UniProtKB:O14745-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Na(+)/H(+) exchange regulatory cofactor NHE-RF1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14745-1","PR:O14745-1","ENSEMBL:ENSP00000262613","ENSEMBL:ENSP00000262613.5"],"information_content":100.0}
{"id":"UniProtKB:O14746-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"telomerase reverse transcriptase isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14746-1","PR:O14746-1","ENSEMBL:ENSP00000309572","ENSEMBL:ENSP00000309572.5"],"information_content":100.0}
{"id":"UniProtKB:O14763-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tumor necrosis factor receptor superfamily member 10B isoform Long (human)","equivalent_identifiers":["UniProtKB:O14763-1","PR:O14763-1","ENSEMBL:ENSP00000276431","ENSEMBL:ENSP00000276431.4"],"information_content":100.0}
{"id":"UniProtKB:O14770-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"homeobox protein Meis2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14770-1","PR:O14770-1","ENSEMBL:ENSP00000453793","ENSEMBL:ENSP00000453793.1"],"information_content":100.0}
{"id":"UniProtKB:O14771-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 213 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14771-1","PR:O14771-1","ENSEMBL:ENSP00000380087","ENSEMBL:ENSP00000380087.3","ENSEMBL:ENSP00000459177","ENSEMBL:ENSP00000459177.1","ENSEMBL:ENSP00000460157","ENSEMBL:ENSP00000460157.1"],"information_content":100.0}
{"id":"UniProtKB:O14773-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tripeptidyl-peptidase 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14773-1","PR:O14773-1","ENSEMBL:ENSP00000299427","ENSEMBL:ENSP00000299427.6"],"information_content":100.0}
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{"id":"UniProtKB:O14791-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"apolipoprotein L1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O14791-2","PR:O14791-2","ENSEMBL:ENSP00000317674","ENSEMBL:ENSP00000317674.4"],"information_content":100.0}
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{"id":"UniProtKB:O14832-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phytanoyl-CoA dioxygenase, peroxisomal isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14832-1","PR:O14832-1","ENSEMBL:ENSP00000263038","ENSEMBL:ENSP00000263038.4"],"information_content":100.0}
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{"id":"UniProtKB:O14924-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"regulator of G-protein signaling 12 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14924-1","PR:O14924-1","ENSEMBL:ENSP00000338509","ENSEMBL:ENSP00000338509.4","ENSEMBL:ENSP00000339381","ENSEMBL:ENSP00000339381.5"],"information_content":100.0}
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{"id":"UniProtKB:O14948-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transcription factor EC isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14948-1","PR:O14948-1","ENSEMBL:ENSP00000265440","ENSEMBL:ENSP00000265440.7"],"information_content":100.0}
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{"id":"UniProtKB:O14967-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"calmegin isoform h1 (human)","equivalent_identifiers":["UniProtKB:O14967-1","PR:O14967-1","ENSEMBL:ENSP00000326699","ENSEMBL:ENSP00000326699.5","ENSEMBL:ENSP00000392782","ENSEMBL:ENSP00000392782.1"],"information_content":100.0}
{"id":"UniProtKB:O14972-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"vacuolar protein sorting-associated protein 26C isoform 1 (human)","equivalent_identifiers":["UniProtKB:O14972-1","PR:O14972-1","ENSEMBL:ENSP00000311399","ENSEMBL:ENSP00000311399.6"],"information_content":100.0}
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{"id":"UniProtKB:O15357-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O15357-1","PR:O15357-1","ENSEMBL:ENSP00000298229","ENSEMBL:ENSP00000298229.2"],"information_content":100.0}
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{"id":"UniProtKB:O15530-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"3-phosphoinositide-dependent protein kinase 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O15530-1","PR:O15530-1","ENSEMBL:ENSP00000344220","ENSEMBL:ENSP00000344220.4"],"information_content":100.0}
{"id":"UniProtKB:O15533-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tapasin isoform h3 (human)","equivalent_identifiers":["UniProtKB:O15533-3","PR:O15533-3","ENSEMBL:ENSP00000372542","ENSEMBL:ENSP00000372542.4","ENSEMBL:ENSP00000404833","ENSEMBL:ENSP00000404833.2","ENSEMBL:ENSP00000514507","ENSEMBL:ENSP00000514507.1"],"information_content":100.0}
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{"id":"UniProtKB:O43148-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mRNA cap guanine-N(7) methyltransferase isoform h2 (human)","equivalent_identifiers":["UniProtKB:O43148-2","PR:O43148-2","ENSEMBL:ENSP00000466111","ENSEMBL:ENSP00000466111.1"],"information_content":100.0}
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{"id":"UniProtKB:O43184-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"disintegrin and metalloproteinase domain-containing protein 12 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43184-1","PR:O43184-1","ENSEMBL:ENSP00000357668","ENSEMBL:ENSP00000357668.4"],"information_content":100.0}
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{"id":"UniProtKB:O43312-5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein MTSS 1 isoform h4 (human)","equivalent_identifiers":["UniProtKB:O43312-5","PR:O43312-5","ENSEMBL:ENSP00000322804","ENSEMBL:ENSP00000322804.5"],"information_content":100.0}
{"id":"UniProtKB:O43313-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATM interactor isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43313-1","PR:O43313-1","ENSEMBL:ENSP00000299575","ENSEMBL:ENSP00000299575.3","ENSEMBL:ENSP00000517627","ENSEMBL:ENSP00000517627.1"],"information_content":100.0}
{"id":"UniProtKB:O43318-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitogen-activated protein kinase kinase kinase 7 isoform h1B (human)","equivalent_identifiers":["UniProtKB:O43318-1","PR:O43318-1","ENSEMBL:ENSP00000358335","ENSEMBL:ENSP00000358335.3"],"information_content":100.0}
{"id":"UniProtKB:O43324-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"eukaryotic translation elongation factor 1 epsilon-1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43324-1","PR:O43324-1","ENSEMBL:ENSP00000369038","ENSEMBL:ENSP00000369038.5"],"information_content":100.0}
{"id":"UniProtKB:O43345-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 208 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43345-1","PR:O43345-1","ENSEMBL:ENSP00000380315","ENSEMBL:ENSP00000380315.3"],"information_content":100.0}
{"id":"UniProtKB:O43353-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"receptor-interacting serine/threonine-protein kinase 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43353-1","PR:O43353-1","ENSEMBL:ENSP00000220751","ENSEMBL:ENSP00000220751.4"],"information_content":100.0}
{"id":"UniProtKB:O43374-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ras GTPase-activating protein 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43374-1","PR:O43374-1","ENSEMBL:ENSP00000262940","ENSEMBL:ENSP00000262940.8"],"information_content":100.0}
{"id":"UniProtKB:O43379-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"WD repeat-containing protein 62 isoform h4 (human)","equivalent_identifiers":["UniProtKB:O43379-4","PR:O43379-4","ENSEMBL:ENSP00000384792","ENSEMBL:ENSP00000384792.1"],"information_content":100.0}
{"id":"UniProtKB:O43390-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"heterogeneous nuclear ribonucleoprotein R isoform h2 (human)","equivalent_identifiers":["UniProtKB:O43390-2","PR:O43390-2","ENSEMBL:ENSP00000363745","ENSEMBL:ENSP00000363745.3","ENSEMBL:ENSP00000488945","ENSEMBL:ENSP00000488945.1"],"information_content":100.0}
{"id":"UniProtKB:O43395-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"U4/U6 small nuclear ribonucleoprotein Prp3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43395-1","PR:O43395-1","ENSEMBL:ENSP00000315379","ENSEMBL:ENSP00000315379.6"],"information_content":100.0}
{"id":"UniProtKB:O43399-7","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tumor protein D54 isoform h7 (human)","equivalent_identifiers":["UniProtKB:O43399-7","PR:O43399-7","ENSEMBL:ENSP00000217121","ENSEMBL:ENSP00000217121.5"],"information_content":100.0}
{"id":"UniProtKB:O43402-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ER membrane protein complex subunit 8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43402-1","PR:O43402-1","ENSEMBL:ENSP00000253457","ENSEMBL:ENSP00000253457.3"],"information_content":100.0}
{"id":"UniProtKB:O43414-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ERI1 exoribonuclease 3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43414-1","PR:O43414-1","ENSEMBL:ENSP00000361331","ENSEMBL:ENSP00000361331.2"],"information_content":100.0}
{"id":"UniProtKB:O43422-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"52 kDa repressor of the inhibitor of the protein kinase isoform Long (human)","equivalent_identifiers":["UniProtKB:O43422-1","PR:O43422-1","ENSEMBL:ENSP00000260045","ENSEMBL:ENSP00000260045.3"],"information_content":100.0}
{"id":"UniProtKB:O43424-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glutamate receptor ionotropic, delta-2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43424-1","PR:O43424-1","ENSEMBL:ENSP00000282020","ENSEMBL:ENSP00000282020.4"],"information_content":100.0}
{"id":"UniProtKB:O43435-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"T-box transcription factor TBX1 isoform C (human)","equivalent_identifiers":["UniProtKB:O43435-3","PR:O43435-3","ENSEMBL:ENSP00000331791","ENSEMBL:ENSP00000331791.4"],"information_content":100.0}
{"id":"UniProtKB:O43439-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein CBFA2T2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43439-1","PR:O43439-1","ENSEMBL:ENSP00000262653","ENSEMBL:ENSP00000262653.7","ENSEMBL:ENSP00000364428","ENSEMBL:ENSP00000364428.2"],"information_content":100.0}
{"id":"UniProtKB:O43451-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"maltase-glucoamylase isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43451-1","PR:O43451-1","ENSEMBL:ENSP00000447378","ENSEMBL:ENSP00000447378.2","ENSEMBL:ENSP00000482292","ENSEMBL:ENSP00000482292.1"],"information_content":100.0}
{"id":"UniProtKB:O43463-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"histone-lysine N-methyltransferase SUV39H1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O43463-2","PR:O43463-2","ENSEMBL:ENSP00000337976","ENSEMBL:ENSP00000337976.6"],"information_content":100.0}
{"id":"UniProtKB:O43464-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine protease HTRA2, mitochondrial isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43464-1","PR:O43464-1","ENSEMBL:ENSP00000258080","ENSEMBL:ENSP00000258080.3"],"information_content":100.0}
{"id":"UniProtKB:O43474-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"krueppel-like factor 4 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O43474-1","PR:O43474-1","ENSEMBL:ENSP00000363804","ENSEMBL:ENSP00000363804.4"],"information_content":100.0}
{"id":"UniProtKB:O43490-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"prominin-1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43490-1","PR:O43490-1","ENSEMBL:ENSP00000415481","ENSEMBL:ENSP00000415481.2","ENSEMBL:ENSP00000426809","ENSEMBL:ENSP00000426809.1"],"information_content":100.0}
{"id":"UniProtKB:O43491-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"band 4.1-like protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43491-1","PR:O43491-1","ENSEMBL:ENSP00000338481","ENSEMBL:ENSP00000338481.3","ENSEMBL:ENSP00000357110","ENSEMBL:ENSP00000357110.2"],"information_content":100.0}
{"id":"UniProtKB:O43497-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"voltage-dependent T-type calcium channel subunit alpha-1G isoform h5 (human)","equivalent_identifiers":["UniProtKB:O43497-1","PR:O43497-1","ENSEMBL:ENSP00000352011","ENSEMBL:ENSP00000352011.5"],"information_content":100.0}
{"id":"UniProtKB:O43502-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DNA repair protein RAD51 homolog 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43502-1","PR:O43502-1","ENSEMBL:ENSP00000336701","ENSEMBL:ENSP00000336701.4"],"information_content":100.0}
{"id":"UniProtKB:O43508-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tumor necrosis factor ligand superfamily member 12 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43508-1","PR:O43508-1","ENSEMBL:ENSP00000293825","ENSEMBL:ENSP00000293825.6"],"information_content":100.0}
{"id":"UniProtKB:O43511-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"pendrin isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43511-1","PR:O43511-1","ENSEMBL:ENSP00000494017","ENSEMBL:ENSP00000494017.1"],"information_content":100.0}
{"id":"UniProtKB:O43516-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"WAS/WASL-interacting protein family member 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43516-1","PR:O43516-1","ENSEMBL:ENSP00000352802","ENSEMBL:ENSP00000352802.3","ENSEMBL:ENSP00000376329","ENSEMBL:ENSP00000376329.2","ENSEMBL:ENSP00000376330","ENSEMBL:ENSP00000376330.2","ENSEMBL:ENSP00000388454","ENSEMBL:ENSP00000388454.2","ENSEMBL:ENSP00000503603","ENSEMBL:ENSP00000503603.1","ENSEMBL:ENSP00000513869","ENSEMBL:ENSP00000513869.1","ENSEMBL:ENSP00000513882","ENSEMBL:ENSP00000513882.1"],"information_content":100.0}
{"id":"UniProtKB:O43521-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Bcl-2-like protein 11 isoform BimEL (human)","equivalent_identifiers":["UniProtKB:O43521-1","PR:O43521-1","ENSEMBL:ENSP00000376943","ENSEMBL:ENSP00000376943.2","ENSEMBL:ENSP00000520413","ENSEMBL:ENSP00000520413.1"],"information_content":95.4}
{"id":"UniProtKB:O43524-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"forkhead box protein O3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43524-1","PR:O43524-1","ENSEMBL:ENSP00000339527","ENSEMBL:ENSP00000339527.6","ENSEMBL:ENSP00000385824","ENSEMBL:ENSP00000385824.1"],"information_content":100.0}
{"id":"UniProtKB:O43525-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"potassium voltage-gated channel subfamily KQT member 3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43525-1","PR:O43525-1","ENSEMBL:ENSP00000373648","ENSEMBL:ENSP00000373648.3"],"information_content":100.0}
{"id":"UniProtKB:O43526-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"potassium voltage-gated channel subfamily KQT member 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43526-1","PR:O43526-1","ENSEMBL:ENSP00000352035","ENSEMBL:ENSP00000352035.2"],"information_content":100.0}
{"id":"UniProtKB:O43541-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mothers against decapentaplegic homolog 6 isoform A (human)","equivalent_identifiers":["UniProtKB:O43541-1","PR:O43541-1","ENSEMBL:ENSP00000288840","ENSEMBL:ENSP00000288840.5"],"information_content":100.0}
{"id":"UniProtKB:O43548-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein-glutamine gamma-glutamyltransferase 5 isoform Long (human)","equivalent_identifiers":["UniProtKB:O43548-1","PR:O43548-1","ENSEMBL:ENSP00000220420","ENSEMBL:ENSP00000220420.5"],"information_content":100.0}
{"id":"UniProtKB:O43555-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"progonadoliberin-2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43555-1","PR:O43555-1","ENSEMBL:ENSP00000245983","ENSEMBL:ENSP00000245983.2"],"information_content":100.0}
{"id":"UniProtKB:O43557-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tumor necrosis factor ligand superfamily member 14 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43557-1","PR:O43557-1","ENSEMBL:ENSP00000469049","ENSEMBL:ENSP00000469049.1","ENSEMBL:ENSP00000502837","ENSEMBL:ENSP00000502837.1"],"information_content":100.0}
{"id":"UniProtKB:O43561-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"linker for activation of T-cells family member 1 isoform h3 (human)","equivalent_identifiers":["UniProtKB:O43561-3","PR:O43561-3","ENSEMBL:ENSP00000378845","ENSEMBL:ENSP00000378845.3"],"information_content":100.0}
{"id":"UniProtKB:O43566-7","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"regulator of G-protein signaling 14 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43566-7","PR:O43566-7","ENSEMBL:ENSP00000386229","ENSEMBL:ENSP00000386229.3"],"information_content":100.0}
{"id":"UniProtKB:O43567-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase RNF13 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43567-1","PR:O43567-1","ENSEMBL:ENSP00000341361","ENSEMBL:ENSP00000341361.3","ENSEMBL:ENSP00000376628","ENSEMBL:ENSP00000376628.3"],"information_content":100.0}
{"id":"UniProtKB:O43570-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"carbonic anhydrase 12 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43570-1","PR:O43570-1","ENSEMBL:ENSP00000178638","ENSEMBL:ENSP00000178638.3"],"information_content":100.0}
{"id":"UniProtKB:O43581-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"synaptotagmin-7 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O43581-2","PR:O43581-2","ENSEMBL:ENSP00000444201","ENSEMBL:ENSP00000444201.1"],"information_content":100.0}
{"id":"UniProtKB:O43586-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"proline-serine-threonine phosphatase-interacting protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43586-1","PR:O43586-1","ENSEMBL:ENSP00000452746","ENSEMBL:ENSP00000452746.1"],"information_content":100.0}
{"id":"UniProtKB:O43593-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lysine-specific demethylase hairless isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43593-1","PR:O43593-1","ENSEMBL:ENSP00000370826","ENSEMBL:ENSP00000370826.4","ENSEMBL:ENSP00000505181","ENSEMBL:ENSP00000505181.1"],"information_content":100.0}
{"id":"UniProtKB:O43598-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"5-hydroxymethyl-dUMP N-hydrolase isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43598-1","PR:O43598-1","ENSEMBL:ENSP00000230431","ENSEMBL:ENSP00000230431.7"],"information_content":100.0}
{"id":"UniProtKB:O43660-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"pleiotropic regulator 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43660-1","PR:O43660-1","ENSEMBL:ENSP00000424417","ENSEMBL:ENSP00000424417.1"],"information_content":100.0}
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{"id":"UniProtKB:O43665-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"regulator of G-protein signaling 10 isoform 3 (human)","equivalent_identifiers":["UniProtKB:O43665-3","PR:O43665-3","ENSEMBL:ENSP00000358099","ENSEMBL:ENSP00000358099.2"],"information_content":100.0}
{"id":"UniProtKB:O43670-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"BUB3-interacting and GLEBS motif-containing protein ZNF207 isoform h4 (human)","equivalent_identifiers":["UniProtKB:O43670-4","PR:O43670-4","ENSEMBL:ENSP00000378165","ENSEMBL:ENSP00000378165.4"],"information_content":100.0}
{"id":"UniProtKB:O43674-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43674-1","PR:O43674-1","ENSEMBL:ENSP00000259037","ENSEMBL:ENSP00000259037.3"],"information_content":100.0}
{"id":"UniProtKB:O43678-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43678-1","PR:O43678-1","ENSEMBL:ENSP00000252102","ENSEMBL:ENSP00000252102.5"],"information_content":100.0}
{"id":"UniProtKB:O43679-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"LIM domain-binding protein 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43679-1","PR:O43679-1","ENSEMBL:ENSP00000306772","ENSEMBL:ENSP00000306772.5"],"information_content":100.0}
{"id":"UniProtKB:O43683-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitotic checkpoint serine/threonine-protein kinase BUB1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43683-1","PR:O43683-1","ENSEMBL:ENSP00000302530","ENSEMBL:ENSP00000302530.6"],"information_content":100.0}
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{"id":"UniProtKB:O43688-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phospholipid phosphatase 2 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O43688-2","PR:O43688-2","ENSEMBL:ENSP00000329697","ENSEMBL:ENSP00000329697.1"],"information_content":100.0}
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{"id":"UniProtKB:O43707-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"alpha-actinin-4 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43707-1","PR:O43707-1","ENSEMBL:ENSP00000252699","ENSEMBL:ENSP00000252699.2","ENSEMBL:ENSP00000489220","ENSEMBL:ENSP00000489220.1"],"information_content":100.0}
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{"id":"UniProtKB:O43734-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin ligase TRAF3IP2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43734-1","PR:O43734-1","ENSEMBL:ENSP00000345984","ENSEMBL:ENSP00000345984.6"],"information_content":100.0}
{"id":"UniProtKB:O43736-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"integral membrane protein 2A isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43736-1","PR:O43736-1","ENSEMBL:ENSP00000362395","ENSEMBL:ENSP00000362395.2"],"information_content":100.0}
{"id":"UniProtKB:O43739-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytohesin-3 isoform 2 (human)","equivalent_identifiers":["UniProtKB:O43739-2","PR:O43739-2","ENSEMBL:ENSP00000297044","ENSEMBL:ENSP00000297044.7"],"information_content":100.0}
{"id":"UniProtKB:O43741-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"5'-AMP-activated protein kinase subunit beta-2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43741-1","PR:O43741-1","ENSEMBL:ENSP00000254101","ENSEMBL:ENSP00000254101.3"],"information_content":100.0}
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{"id":"UniProtKB:O43759-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"synaptogyrin-1 isoform h1A (human)","equivalent_identifiers":["UniProtKB:O43759-1","PR:O43759-1","ENSEMBL:ENSP00000332287","ENSEMBL:ENSP00000332287.5"],"information_content":100.0}
{"id":"UniProtKB:O43760-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"synaptogyrin-2 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O43760-2","PR:O43760-2","ENSEMBL:ENSP00000467600","ENSEMBL:ENSP00000467600.1"],"information_content":100.0}
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{"id":"UniProtKB:O43776-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"asparagine--tRNA ligase, cytoplasmic isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43776-1","PR:O43776-1","ENSEMBL:ENSP00000256854","ENSEMBL:ENSP00000256854.4"],"information_content":100.0}
{"id":"UniProtKB:O43781-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dual specificity tyrosine-phosphorylation-regulated kinase 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43781-1","PR:O43781-1","ENSEMBL:ENSP00000356076","ENSEMBL:ENSP00000356076.2"],"information_content":100.0}
{"id":"UniProtKB:O43795-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"unconventional myosin-Ib isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43795-1","PR:O43795-1","ENSEMBL:ENSP00000306382","ENSEMBL:ENSP00000306382.4","ENSEMBL:ENSP00000376132","ENSEMBL:ENSP00000376132.3"],"information_content":100.0}
{"id":"UniProtKB:O43815-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"striatin isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43815-1","PR:O43815-1","ENSEMBL:ENSP00000263918","ENSEMBL:ENSP00000263918.4"],"information_content":100.0}
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{"id":"UniProtKB:O43852-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"calumenin isoform h4 (human)","equivalent_identifiers":["UniProtKB:O43852-4","PR:O43852-4","ENSEMBL:ENSP00000438248","ENSEMBL:ENSP00000438248.1"],"information_content":100.0}
{"id":"UniProtKB:O43854-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"EGF-like repeat and discoidin I-like domain-containing protein 3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43854-1","PR:O43854-1","ENSEMBL:ENSP00000296591","ENSEMBL:ENSP00000296591.4"],"information_content":100.0}
{"id":"UniProtKB:O43861-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"probable phospholipid-transporting ATPase IIB isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43861-1","PR:O43861-1","ENSEMBL:ENSP00000398076","ENSEMBL:ENSP00000398076.2"],"information_content":100.0}
{"id":"UniProtKB:O43865-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"S-adenosylhomocysteine hydrolase-like protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43865-1","PR:O43865-1","ENSEMBL:ENSP00000358814","ENSEMBL:ENSP00000358814.5"],"information_content":100.0}
{"id":"UniProtKB:O43889-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cyclic AMP-responsive element-binding protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43889-2","PR:O43889-2","ENSEMBL:ENSP00000342136","ENSEMBL:ENSP00000342136.2"],"information_content":100.0}
{"id":"UniProtKB:O43897-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tolloid-like protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43897-1","PR:O43897-1","ENSEMBL:ENSP00000061240","ENSEMBL:ENSP00000061240.2"],"information_content":100.0}
{"id":"UniProtKB:O43900-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"prickle planar cell polarity protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43900-1","PR:O43900-1","ENSEMBL:ENSP00000470248","ENSEMBL:ENSP00000470248.1"],"information_content":100.0}
{"id":"UniProtKB:O43903-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"growth arrest-specific protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43903-1","PR:O43903-1","ENSEMBL:ENSP00000278187","ENSEMBL:ENSP00000278187.3","ENSEMBL:ENSP00000401145","ENSEMBL:ENSP00000401145.2"],"information_content":100.0}
{"id":"UniProtKB:O43913-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"origin recognition complex subunit 5 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O43913-1","PR:O43913-1","ENSEMBL:ENSP00000297431","ENSEMBL:ENSP00000297431.4"],"information_content":100.0}
{"id":"UniProtKB:O43914-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"TYRO protein tyrosine kinase-binding protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43914-1","PR:O43914-1","ENSEMBL:ENSP00000262629","ENSEMBL:ENSP00000262629.3"],"information_content":100.0}
{"id":"UniProtKB:O43918-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"autoimmune regulator isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43918-1","PR:O43918-1","ENSEMBL:ENSP00000291582","ENSEMBL:ENSP00000291582.5"],"information_content":100.0}
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{"id":"UniProtKB:O43933-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"peroxisomal ATPase PEX1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O43933-1","PR:O43933-1","ENSEMBL:ENSP00000248633","ENSEMBL:ENSP00000248633.4"],"information_content":100.0}
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{"id":"UniProtKB:O60331-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phosphatidylinositol 4-phosphate 5-kinase type-1 gamma isoform h3 (human)","equivalent_identifiers":["UniProtKB:O60331-3","PR:O60331-3","ENSEMBL:ENSP00000466363","ENSEMBL:ENSP00000466363.1"],"information_content":100.0}
{"id":"UniProtKB:O60333-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kinesin-like protein KIF1B isoform 2 (human)","equivalent_identifiers":["UniProtKB:O60333-2","PR:O60333-2","ENSEMBL:ENSP00000263934","ENSEMBL:ENSP00000263934.6"],"information_content":100.0}
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{"id":"UniProtKB:O60341-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lysine-specific histone demethylase 1A isoform h2 (human)","equivalent_identifiers":["UniProtKB:O60341-2","PR:O60341-2","ENSEMBL:ENSP00000383042","ENSEMBL:ENSP00000383042.5"],"information_content":100.0}
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{"id":"UniProtKB:O60641-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"clathrin coat assembly protein AP180 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60641-1","PR:O60641-1","ENSEMBL:ENSP00000358708","ENSEMBL:ENSP00000358708.2","ENSEMBL:ENSP00000400459","ENSEMBL:ENSP00000400459.2","ENSEMBL:ENSP00000428215","ENSEMBL:ENSP00000428215.1"],"information_content":100.0}
{"id":"UniProtKB:O60656-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"UDP-glucuronosyltransferase 1A9 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60656-1","PR:O60656-1","ENSEMBL:ENSP00000346768","ENSEMBL:ENSP00000346768.4"],"information_content":100.0}
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{"id":"UniProtKB:O60663-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"LIM homeobox transcription factor 1-beta isoform h3 (human)","equivalent_identifiers":["UniProtKB:O60663-3","PR:O60663-3","ENSEMBL:ENSP00000347684","ENSEMBL:ENSP00000347684.5"],"information_content":100.0}
{"id":"UniProtKB:O60664-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"perilipin-3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60664-1","PR:O60664-1","ENSEMBL:ENSP00000221957","ENSEMBL:ENSP00000221957.3"],"information_content":100.0}
{"id":"UniProtKB:O60667-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"immunoglobulin mu Fc receptor isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60667-1","PR:O60667-1","ENSEMBL:ENSP00000356058","ENSEMBL:ENSP00000356058.3"],"information_content":100.0}
{"id":"UniProtKB:O60671-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cell cycle checkpoint protein RAD1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60671-1","PR:O60671-1","ENSEMBL:ENSP00000340879","ENSEMBL:ENSP00000340879.4","ENSEMBL:ENSP00000371469","ENSEMBL:ENSP00000371469.2"],"information_content":100.0}
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{"id":"UniProtKB:O60678-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein arginine N-methyltransferase 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60678-1","PR:O60678-1","ENSEMBL:ENSP00000331879","ENSEMBL:ENSP00000331879.6"],"information_content":100.0}
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{"id":"UniProtKB:O60701-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"UDP-glucose 6-dehydrogenase isoform 1 (human)","equivalent_identifiers":["UniProtKB:O60701-1","PR:O60701-1","ENSEMBL:ENSP00000319501","ENSEMBL:ENSP00000319501.6","ENSEMBL:ENSP00000421757","ENSEMBL:ENSP00000421757.1"],"information_content":100.0}
{"id":"UniProtKB:O60706-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATP-binding cassette sub-family C member 9 isoform hSUR2B (human)","equivalent_identifiers":["UniProtKB:O60706-2","PR:O60706-2","ENSEMBL:ENSP00000261200","ENSEMBL:ENSP00000261200.4"],"information_content":100.0}
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{"id":"UniProtKB:O60721-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sodium/potassium/calcium exchanger 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60721-1","PR:O60721-1","ENSEMBL:ENSP00000261892","ENSEMBL:ENSP00000261892.6"],"information_content":100.0}
{"id":"UniProtKB:O60732-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"melanoma-associated antigen C1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60732-1","PR:O60732-1","ENSEMBL:ENSP00000285879","ENSEMBL:ENSP00000285879.4"],"information_content":100.0}
{"id":"UniProtKB:O60733-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"85/88 kDa calcium-independent phospholipase A2 isoform hLH-iPLA2 (human)","equivalent_identifiers":["UniProtKB:O60733-1","PR:O60733-1","ENSEMBL:ENSP00000333142","ENSEMBL:ENSP00000333142.3","ENSEMBL:ENSP00000499555","ENSEMBL:ENSP00000499555.1","ENSEMBL:ENSP00000499665","ENSEMBL:ENSP00000499665.1","ENSEMBL:ENSP00000499712","ENSEMBL:ENSP00000499712.1"],"information_content":100.0}
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{"id":"UniProtKB:O60763-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"general vesicular transport factor p115 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O60763-2","PR:O60763-2","ENSEMBL:ENSP00000264904","ENSEMBL:ENSP00000264904.7"],"information_content":100.0}
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{"id":"UniProtKB:O60825-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60825-1","PR:O60825-1","ENSEMBL:ENSP00000356047","ENSEMBL:ENSP00000356047.3"],"information_content":100.0}
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{"id":"UniProtKB:O60830-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitochondrial import inner membrane translocase subunit Tim17-B isoform h2 (human)","equivalent_identifiers":["UniProtKB:O60830-2","PR:O60830-2","ENSEMBL:ENSP00000379999","ENSEMBL:ENSP00000379999.3","ENSEMBL:ENSP00000477073","ENSEMBL:ENSP00000477073.1","ENSEMBL:ENSP00000518046","ENSEMBL:ENSP00000518046.1","ENSEMBL:ENSP00000518048","ENSEMBL:ENSP00000518048.1"],"information_content":100.0}
{"id":"UniProtKB:O60832-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"H/ACA ribonucleoprotein complex subunit DKC1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60832-1","PR:O60832-1","ENSEMBL:ENSP00000358563","ENSEMBL:ENSP00000358563.5"],"information_content":100.0}
{"id":"UniProtKB:O60840-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"voltage-dependent L-type calcium channel subunit alpha-1F isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60840-1","PR:O60840-1","ENSEMBL:ENSP00000365441","ENSEMBL:ENSP00000365441.2"],"information_content":100.0}
{"id":"UniProtKB:O60858-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase TRIM13 isoform h3 (human)","equivalent_identifiers":["UniProtKB:O60858-3","PR:O60858-3","ENSEMBL:ENSP00000348299","ENSEMBL:ENSP00000348299.4"],"information_content":100.0}
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{"id":"UniProtKB:O60869-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"endothelial differentiation-related factor 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O60869-1","PR:O60869-1","ENSEMBL:ENSP00000224073","ENSEMBL:ENSP00000224073.1"],"information_content":100.0}
{"id":"UniProtKB:O60870-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DNA/RNA-binding protein KIN17 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60870-1","PR:O60870-1","ENSEMBL:ENSP00000368881","ENSEMBL:ENSP00000368881.3"],"information_content":100.0}
{"id":"UniProtKB:O60879-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein diaphanous homolog 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60879-1","PR:O60879-1","ENSEMBL:ENSP00000321348","ENSEMBL:ENSP00000321348.8"],"information_content":100.0}
{"id":"UniProtKB:O60880-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SH2 domain-containing protein 1A isoform A (human)","equivalent_identifiers":["UniProtKB:O60880-1","PR:O60880-1","ENSEMBL:ENSP00000360181","ENSEMBL:ENSP00000360181.5","ENSEMBL:ENSP00000513571","ENSEMBL:ENSP00000513571.1","ENSEMBL:ENSP00000513572","ENSEMBL:ENSP00000513572.1","ENSEMBL:ENSP00000513574","ENSEMBL:ENSP00000513574.1"],"information_content":100.0}
{"id":"UniProtKB:O60885-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"bromodomain-containing protein 4 isoform A (human)","equivalent_identifiers":["UniProtKB:O60885-1","PR:O60885-1","ENSEMBL:ENSP00000263377","ENSEMBL:ENSP00000263377.1","ENSEMBL:ENSP00000506350","ENSEMBL:ENSP00000506350.1"],"information_content":100.0}
{"id":"UniProtKB:O60890-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"oligophrenin-1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O60890-1","PR:O60890-1","ENSEMBL:ENSP00000347710","ENSEMBL:ENSP00000347710.5"],"information_content":100.0}
{"id":"UniProtKB:O60895-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"receptor activity-modifying protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60895-1","PR:O60895-1","ENSEMBL:ENSP00000253796","ENSEMBL:ENSP00000253796.3"],"information_content":100.0}
{"id":"UniProtKB:O60902-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"short stature homeobox protein 2 isoform h3 (human)","equivalent_identifiers":["UniProtKB:O60902-3","PR:O60902-3","ENSEMBL:ENSP00000374240","ENSEMBL:ENSP00000374240.4"],"information_content":100.0}
{"id":"UniProtKB:O60907-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F-box-like/WD repeat-containing protein TBL1X isoform h1 (human)","equivalent_identifiers":["UniProtKB:O60907-1","PR:O60907-1","ENSEMBL:ENSP00000385988","ENSEMBL:ENSP00000385988.2","ENSEMBL:ENSP00000493782","ENSEMBL:ENSP00000493782.1","ENSEMBL:ENSP00000495556","ENSEMBL:ENSP00000495556.1","ENSEMBL:ENSP00000496215","ENSEMBL:ENSP00000496215.1"],"information_content":100.0}
{"id":"UniProtKB:O60909-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"beta-1,4-galactosyltransferase 2 isoform h3 (human)","equivalent_identifiers":["UniProtKB:O60909-3","PR:O60909-3","ENSEMBL:ENSP00000310696","ENSEMBL:ENSP00000310696.7"],"information_content":100.0}
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{"id":"UniProtKB:O60928-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"inward rectifier potassium channel 13 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O60928-1","PR:O60928-1","ENSEMBL:ENSP00000233826","ENSEMBL:ENSP00000233826.3","ENSEMBL:ENSP00000386251","ENSEMBL:ENSP00000386251.1"],"information_content":100.0}
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{"id":"UniProtKB:O75022","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"LIRB3_HUMAN Leukocyte immunoglobulin-like receptor subfamily B member 3 (sprot)","equivalent_identifiers":["UniProtKB:O75022","PR:O75022","ENSEMBL:ENSP00000245620","ENSEMBL:ENSP00000245620.9","ENSEMBL:ENSP00000375630","ENSEMBL:ENSP00000375630.1","ENSEMBL:ENSP00000479234","ENSEMBL:ENSP00000479234.1"],"information_content":86.3}
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{"id":"UniProtKB:O75173-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"a disintegrin and metalloproteinase with thrombospondin motifs 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75173-1","PR:O75173-1","ENSEMBL:ENSP00000356975","ENSEMBL:ENSP00000356975.4"],"information_content":100.0}
{"id":"UniProtKB:O75177-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"calcium-responsive transactivator isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75177-1","PR:O75177-1","ENSEMBL:ENSP00000333012","ENSEMBL:ENSP00000333012.3"],"information_content":100.0}
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{"id":"UniProtKB:O75182-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"paired amphipathic helix protein Sin3b isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75182-1","PR:O75182-1","ENSEMBL:ENSP00000369131","ENSEMBL:ENSP00000369131.1"],"information_content":100.0}
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{"id":"UniProtKB:O75190-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DnaJ homolog subfamily B member 6 isoform A (human)","equivalent_identifiers":["UniProtKB:O75190-1","PR:O75190-1","ENSEMBL:ENSP00000262177","ENSEMBL:ENSP00000262177.4"],"information_content":100.0}
{"id":"UniProtKB:O75191-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"xylulose kinase isoform 1 (human)","equivalent_identifiers":["UniProtKB:O75191-1","PR:O75191-1","ENSEMBL:ENSP00000207870","ENSEMBL:ENSP00000207870.3"],"information_content":100.0}
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{"id":"UniProtKB:O75386-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tubby-related protein 3 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O75386-2","PR:O75386-2","ENSEMBL:ENSP00000380321","ENSEMBL:ENSP00000380321.2"],"information_content":100.0}
{"id":"UniProtKB:O75387-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"large neutral amino acids transporter small subunit 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75387-1","PR:O75387-1","ENSEMBL:ENSP00000278426","ENSEMBL:ENSP00000278426.3","ENSEMBL:ENSP00000435673","ENSEMBL:ENSP00000435673.1"],"information_content":100.0}
{"id":"UniProtKB:O75398-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"deformed epidermal autoregulatory factor 1 homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75398-1","PR:O75398-1","ENSEMBL:ENSP00000371846","ENSEMBL:ENSP00000371846.3"],"information_content":100.0}
{"id":"UniProtKB:O75410-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transforming acidic coiled-coil-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75410-1","PR:O75410-1","ENSEMBL:ENSP00000321703","ENSEMBL:ENSP00000321703.4"],"information_content":100.0}
{"id":"UniProtKB:O75417-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DNA polymerase theta isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75417-1","PR:O75417-1","ENSEMBL:ENSP00000264233","ENSEMBL:ENSP00000264233.5"],"information_content":100.0}
{"id":"UniProtKB:O75419-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cell division control protein 45 homolog isoform h3 (human)","equivalent_identifiers":["UniProtKB:O75419-3","PR:O75419-3","ENSEMBL:ENSP00000405726","ENSEMBL:ENSP00000405726.2"],"information_content":100.0}
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{"id":"UniProtKB:O75426-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F-box only protein 24 isoform h3 (human)","equivalent_identifiers":["UniProtKB:O75426-3","PR:O75426-3","ENSEMBL:ENSP00000416558","ENSEMBL:ENSP00000416558.2"],"information_content":100.0}
{"id":"UniProtKB:O75431-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"metaxin-2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O75431-1","PR:O75431-1","ENSEMBL:ENSP00000249442","ENSEMBL:ENSP00000249442.6"],"information_content":100.0}
{"id":"UniProtKB:O75436-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"vacuolar protein sorting-associated protein 26A isoform 1 (human)","equivalent_identifiers":["UniProtKB:O75436-1","PR:O75436-1","ENSEMBL:ENSP00000263559","ENSEMBL:ENSP00000263559.6","ENSEMBL:ENSP00000362480","ENSEMBL:ENSP00000362480.1"],"information_content":100.0}
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{"id":"UniProtKB:O75473-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine-rich repeat-containing G-protein coupled receptor 5 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O75473-1","PR:O75473-1","ENSEMBL:ENSP00000266674","ENSEMBL:ENSP00000266674.4"],"information_content":100.0}
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{"id":"UniProtKB:O75525-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O75525-1","PR:O75525-1","ENSEMBL:ENSP00000348108","ENSEMBL:ENSP00000348108.5"],"information_content":100.0}
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{"id":"UniProtKB:O75575-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DNA-directed RNA polymerase III subunit RPC9 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O75575-1","PR:O75575-1","ENSEMBL:ENSP00000378736","ENSEMBL:ENSP00000378736.3"],"information_content":100.0}
{"id":"UniProtKB:O75578-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"integrin alpha-10 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75578-1","PR:O75578-1","ENSEMBL:ENSP00000358310","ENSEMBL:ENSP00000358310.3"],"information_content":100.0}
{"id":"UniProtKB:O75582-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ribosomal protein S6 kinase alpha-5 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O75582-1","PR:O75582-1","ENSEMBL:ENSP00000479667","ENSEMBL:ENSP00000479667.1"],"information_content":100.0}
{"id":"UniProtKB:O75592-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase MYCBP2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75592-1","PR:O75592-1","ENSEMBL:ENSP00000444596","ENSEMBL:ENSP00000444596.2"],"information_content":100.0}
{"id":"UniProtKB:O75600-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform h2 (human)","equivalent_identifiers":["UniProtKB:O75600-2","PR:O75600-2","ENSEMBL:ENSP00000371110","ENSEMBL:ENSP00000371110.3"],"information_content":100.0}
{"id":"UniProtKB:O75602-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sperm-associated antigen 6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75602-1","PR:O75602-1","ENSEMBL:ENSP00000365811","ENSEMBL:ENSP00000365811.3"],"information_content":100.0}
{"id":"UniProtKB:O75604-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin carboxyl-terminal hydrolase 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75604-1","PR:O75604-1","ENSEMBL:ENSP00000260187","ENSEMBL:ENSP00000260187.2"],"information_content":100.0}
{"id":"UniProtKB:O75608-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"acyl-protein thioesterase 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O75608-1","PR:O75608-1","ENSEMBL:ENSP00000320043","ENSEMBL:ENSP00000320043.3"],"information_content":100.0}
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{"id":"UniProtKB:O75626-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"PR domain zinc finger protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O75626-1","PR:O75626-1","ENSEMBL:ENSP00000358092","ENSEMBL:ENSP00000358092.4"],"information_content":100.0}
{"id":"UniProtKB:O75631-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"uroplakin-3a isoform 1 (human)","equivalent_identifiers":["UniProtKB:O75631-1","PR:O75631-1","ENSEMBL:ENSP00000216211","ENSEMBL:ENSP00000216211.4"],"information_content":100.0}
{"id":"UniProtKB:O75635-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serpin B7 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O75635-1","PR:O75635-1","ENSEMBL:ENSP00000337212","ENSEMBL:ENSP00000337212.2","ENSEMBL:ENSP00000381101","ENSEMBL:ENSP00000381101.2","ENSEMBL:ENSP00000444861","ENSEMBL:ENSP00000444861.1"],"information_content":100.0}
{"id":"UniProtKB:O75636-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ficolin-3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75636-1","PR:O75636-1","ENSEMBL:ENSP00000270879","ENSEMBL:ENSP00000270879.4"],"information_content":100.0}
{"id":"UniProtKB:O75638-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cancer/testis antigen 2 isoform hLAGE-1B (human)","equivalent_identifiers":["UniProtKB:O75638-1","PR:O75638-1","ENSEMBL:ENSP00000247306","ENSEMBL:ENSP00000247306.4"],"information_content":100.0}
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{"id":"UniProtKB:O75648-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitochondrial tRNA-specific 2-thiouridylase 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75648-1","PR:O75648-1","ENSEMBL:ENSP00000496496","ENSEMBL:ENSP00000496496.1"],"information_content":100.0}
{"id":"UniProtKB:O75663-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"TIP41-like protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75663-1","PR:O75663-1","ENSEMBL:ENSP00000356807","ENSEMBL:ENSP00000356807.2"],"information_content":100.0}
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{"id":"UniProtKB:O75674-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"TOM1-like protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75674-1","PR:O75674-1","ENSEMBL:ENSP00000460823","ENSEMBL:ENSP00000460823.1"],"information_content":100.0}
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{"id":"UniProtKB:O75678-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ret finger protein-like 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75678-1","PR:O75678-1","ENSEMBL:ENSP00000248983","ENSEMBL:ENSP00000248983.5","ENSEMBL:ENSP00000383096","ENSEMBL:ENSP00000383096.1","ENSEMBL:ENSP00000498332","ENSEMBL:ENSP00000498332.1"],"information_content":100.0}
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{"id":"UniProtKB:O75832-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"26S proteasome non-ATPase regulatory subunit 10 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O75832-1","PR:O75832-1","ENSEMBL:ENSP00000217958","ENSEMBL:ENSP00000217958.3"],"information_content":100.0}
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{"id":"UniProtKB:O75865-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"trafficking protein particle complex subunit 6A isoform h2 (human)","equivalent_identifiers":["UniProtKB:O75865-2","PR:O75865-2","ENSEMBL:ENSP00000006275","ENSEMBL:ENSP00000006275.3"],"information_content":100.0}
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{"id":"UniProtKB:O76083-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform hPDE9A1 (human)","equivalent_identifiers":["UniProtKB:O76083-1","PR:O76083-1","ENSEMBL:ENSP00000291539","ENSEMBL:ENSP00000291539.6"],"information_content":100.0}
{"id":"UniProtKB:O76090-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"bestrophin-1 isoform h3 (human)","equivalent_identifiers":["UniProtKB:O76090-3","PR:O76090-3","ENSEMBL:ENSP00000399709","ENSEMBL:ENSP00000399709.2"],"information_content":100.0}
{"id":"UniProtKB:O76094-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"signal recognition particle subunit SRP72 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O76094-1","PR:O76094-1","ENSEMBL:ENSP00000495128","ENSEMBL:ENSP00000495128.1"],"information_content":100.0}
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{"id":"UniProtKB:O94762-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATP-dependent DNA helicase Q5 isoform Beta (human)","equivalent_identifiers":["UniProtKB:O94762-1","PR:O94762-1","ENSEMBL:ENSP00000317636","ENSEMBL:ENSP00000317636.5"],"information_content":100.0}
{"id":"UniProtKB:O94763-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"unconventional prefoldin RPB5 interactor 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O94763-1","PR:O94763-1","ENSEMBL:ENSP00000376097","ENSEMBL:ENSP00000376097.2"],"information_content":100.0}
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{"id":"UniProtKB:O94776-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"metastasis-associated protein MTA2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O94776-1","PR:O94776-1","ENSEMBL:ENSP00000278823","ENSEMBL:ENSP00000278823.2"],"information_content":100.0}
{"id":"UniProtKB:O94779-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"contactin-5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O94779-1","PR:O94779-1","ENSEMBL:ENSP00000435637","ENSEMBL:ENSP00000435637.1","ENSEMBL:ENSP00000436185","ENSEMBL:ENSP00000436185.1"],"information_content":100.0}
{"id":"UniProtKB:O94788-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"retinal dehydrogenase 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O94788-1","PR:O94788-1","ENSEMBL:ENSP00000249750","ENSEMBL:ENSP00000249750.4"],"information_content":100.0}
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{"id":"UniProtKB:O94822-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase listerin isoform h3 (human)","equivalent_identifiers":["UniProtKB:O94822-3","PR:O94822-3","ENSEMBL:ENSP00000478783","ENSEMBL:ENSP00000478783.1","ENSEMBL:ENSP00000517025","ENSEMBL:ENSP00000517025.1"],"information_content":100.0}
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{"id":"UniProtKB:O94851-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"[F-actin]-monooxygenase MICAL2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O94851-1","PR:O94851-1","ENSEMBL:ENSP00000256194","ENSEMBL:ENSP00000256194.4","ENSEMBL:ENSP00000507067","ENSEMBL:ENSP00000507067.1"],"information_content":100.0}
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{"id":"UniProtKB:O94915-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein furry homolog-like isoform h1 (human)","equivalent_identifiers":["UniProtKB:O94915-1","PR:O94915-1","ENSEMBL:ENSP00000351113","ENSEMBL:ENSP00000351113.4"],"information_content":100.0}
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{"id":"UniProtKB:O94921-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cyclin-dependent kinase 14 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O94921-1","PR:O94921-1","ENSEMBL:ENSP00000369390","ENSEMBL:ENSP00000369390.3"],"information_content":100.0}
{"id":"UniProtKB:O94925-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glutaminase kidney isoform, mitochondrial isoform h1 (human)","equivalent_identifiers":["UniProtKB:O94925-1","PR:O94925-1","ENSEMBL:ENSP00000317379","ENSEMBL:ENSP00000317379.3"],"information_content":100.0}
{"id":"UniProtKB:O94941-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RING finger protein 37 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O94941-1","PR:O94941-1","ENSEMBL:ENSP00000217173","ENSEMBL:ENSP00000217173.2"],"information_content":100.0}
{"id":"UniProtKB:O94952-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F-box only protein 21 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O94952-2","PR:O94952-2","ENSEMBL:ENSP00000328187","ENSEMBL:ENSP00000328187.5"],"information_content":100.0}
{"id":"UniProtKB:O94956-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"solute carrier organic anion transporter family member 2B1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O94956-1","PR:O94956-1","ENSEMBL:ENSP00000289575","ENSEMBL:ENSP00000289575.5"],"information_content":100.0}
{"id":"UniProtKB:O94966-5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin carboxyl-terminal hydrolase 19 isoform h5 (human)","equivalent_identifiers":["UniProtKB:O94966-5","PR:O94966-5","ENSEMBL:ENSP00000401197","ENSEMBL:ENSP00000401197.2"],"information_content":100.0}
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{"id":"UniProtKB:O94973-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"AP-2 complex subunit alpha-2 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O94973-2","PR:O94973-2","ENSEMBL:ENSP00000327694","ENSEMBL:ENSP00000327694.5"],"information_content":100.0}
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{"id":"UniProtKB:O94983-6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"calmodulin-binding transcription activator 2 isoform h6 (human)","equivalent_identifiers":["UniProtKB:O94983-6","PR:O94983-6","ENSEMBL:ENSP00000412886","ENSEMBL:ENSP00000412886.3"],"information_content":100.0}
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{"id":"UniProtKB:O95049-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tight junction protein ZO-3 isoform h4 (human)","equivalent_identifiers":["UniProtKB:O95049-4","PR:O95049-4","ENSEMBL:ENSP00000465419","ENSEMBL:ENSP00000465419.1"],"information_content":100.0}
{"id":"UniProtKB:O95050-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"indolethylamine N-methyltransferase isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95050-1","PR:O95050-1","ENSEMBL:ENSP00000013222","ENSEMBL:ENSP00000013222.5"],"information_content":100.0}
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{"id":"UniProtKB:O95084-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine protease 23 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O95084-1","PR:O95084-1","ENSEMBL:ENSP00000280258","ENSEMBL:ENSP00000280258.4"],"information_content":100.0}
{"id":"UniProtKB:O95104-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SR-related and CTD-associated factor 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95104-1","PR:O95104-1","ENSEMBL:ENSP00000286835","ENSEMBL:ENSP00000286835.7"],"information_content":100.0}
{"id":"UniProtKB:O95125-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 202 isoform Beta (human)","equivalent_identifiers":["UniProtKB:O95125-1","PR:O95125-1","ENSEMBL:ENSP00000337724","ENSEMBL:ENSP00000337724.4","ENSEMBL:ENSP00000432504","ENSEMBL:ENSP00000432504.1","ENSEMBL:ENSP00000433881","ENSEMBL:ENSP00000433881.1"],"information_content":100.0}
{"id":"UniProtKB:O95139-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O95139-1","PR:O95139-1","ENSEMBL:ENSP00000369176","ENSEMBL:ENSP00000369176.3"],"information_content":100.0}
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{"id":"UniProtKB:O95155-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin conjugation factor E4 B isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95155-1","PR:O95155-1","ENSEMBL:ENSP00000343001","ENSEMBL:ENSP00000343001.6"],"information_content":100.0}
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{"id":"UniProtKB:O95170-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F-box and WD repeat domain containing protein 10B isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95170-1","PR:O95170-1","ENSEMBL:ENSP00000379242","ENSEMBL:ENSP00000379242.4"],"information_content":100.0}
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{"id":"UniProtKB:O95180-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"voltage-dependent T-type calcium channel subunit alpha-1H isoform 1 (human)","equivalent_identifiers":["UniProtKB:O95180-1","PR:O95180-1","ENSEMBL:ENSP00000334198","ENSEMBL:ENSP00000334198.7","ENSEMBL:ENSP00000518775","ENSEMBL:ENSP00000518775.1"],"information_content":100.0}
{"id":"UniProtKB:O95185-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"netrin receptor UNC5C isoform 1 (human)","equivalent_identifiers":["UniProtKB:O95185-1","PR:O95185-1","ENSEMBL:ENSP00000406022","ENSEMBL:ENSP00000406022.1"],"information_content":100.0}
{"id":"UniProtKB:O95196-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"chondroitin sulfate proteoglycan 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95196-1","PR:O95196-1","ENSEMBL:ENSP00000373244","ENSEMBL:ENSP00000373244.2"],"information_content":100.0}
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{"id":"UniProtKB:O95198-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kelch-like protein 2 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O95198-2","PR:O95198-2","ENSEMBL:ENSP00000424198","ENSEMBL:ENSP00000424198.1"],"information_content":100.0}
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{"id":"UniProtKB:O95208-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"epsin-2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95208-1","PR:O95208-1","ENSEMBL:ENSP00000320543","ENSEMBL:ENSP00000320543.5"],"information_content":100.0}
{"id":"UniProtKB:O95218-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger Ran-binding domain-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95218-1","PR:O95218-1","ENSEMBL:ENSP00000359958","ENSEMBL:ENSP00000359958.3"],"information_content":100.0}
{"id":"UniProtKB:O95219-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sorting nexin-4 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O95219-1","PR:O95219-1","ENSEMBL:ENSP00000251775","ENSEMBL:ENSP00000251775.4"],"information_content":100.0}
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{"id":"UniProtKB:O95359-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transforming acidic coiled-coil-containing protein 2 isoform h4 (human)","equivalent_identifiers":["UniProtKB:O95359-4","PR:O95359-4","ENSEMBL:ENSP00000334280","ENSEMBL:ENSP00000334280.2","ENSEMBL:ENSP00000358001","ENSEMBL:ENSP00000358001.1"],"information_content":100.0}
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{"id":"UniProtKB:O95671-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95671-1","PR:O95671-1","ENSEMBL:ENSP00000370718","ENSEMBL:ENSP00000370718.3","ENSEMBL:ENSP00000518600","ENSEMBL:ENSP00000518600.1"],"information_content":100.0}
{"id":"UniProtKB:O95672-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"endothelin-converting enzyme-like 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95672-1","PR:O95672-1","ENSEMBL:ENSP00000302051","ENSEMBL:ENSP00000302051.1"],"information_content":100.0}
{"id":"UniProtKB:O95674-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phosphatidate cytidylyltransferase 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95674-1","PR:O95674-1","ENSEMBL:ENSP00000419879","ENSEMBL:ENSP00000419879.1"],"information_content":100.0}
{"id":"UniProtKB:O95684-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centrosomal protein 43 isoform 1 (human)","equivalent_identifiers":["UniProtKB:O95684-1","PR:O95684-1","ENSEMBL:ENSP00000355812","ENSEMBL:ENSP00000355812.3"],"information_content":100.0}
{"id":"UniProtKB:O95696-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"bromodomain-containing protein 1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O95696-2","PR:O95696-2","ENSEMBL:ENSP00000385858","ENSEMBL:ENSP00000385858.1","ENSEMBL:ENSP00000410042","ENSEMBL:ENSP00000410042.3"],"information_content":100.0}
{"id":"UniProtKB:O95704-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"amyloid-beta A4 precursor protein-binding family B member 3 isoform IV (human)","equivalent_identifiers":["UniProtKB:O95704-4","PR:O95704-4","ENSEMBL:ENSP00000346378","ENSEMBL:ENSP00000346378.5"],"information_content":100.0}
{"id":"UniProtKB:O95718-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"steroid hormone receptor ERR2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95718-1","PR:O95718-1","ENSEMBL:ENSP00000370270","ENSEMBL:ENSP00000370270.2","ENSEMBL:ENSP00000422488","ENSEMBL:ENSP00000422488.1"],"information_content":100.0}
{"id":"UniProtKB:O95727-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytotoxic and regulatory T-cell molecule isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95727-1","PR:O95727-1","ENSEMBL:ENSP00000227348","ENSEMBL:ENSP00000227348.4"],"information_content":100.0}
{"id":"UniProtKB:O95741-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"copine-6 isoform h2 (human)","equivalent_identifiers":["UniProtKB:O95741-2","PR:O95741-2","ENSEMBL:ENSP00000440077","ENSEMBL:ENSP00000440077.1","ENSEMBL:ENSP00000494138","ENSEMBL:ENSP00000494138.1"],"information_content":100.0}
{"id":"UniProtKB:O95749-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"geranylgeranyl pyrophosphate synthase isoform 1 (human)","equivalent_identifiers":["UniProtKB:O95749-1","PR:O95749-1","ENSEMBL:ENSP00000282841","ENSEMBL:ENSP00000282841.5","ENSEMBL:ENSP00000351852","ENSEMBL:ENSP00000351852.2","ENSEMBL:ENSP00000418690","ENSEMBL:ENSP00000418690.1"],"information_content":100.0}
{"id":"UniProtKB:O95754-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"semaphorin-4F isoform Long (human)","equivalent_identifiers":["UniProtKB:O95754-1","PR:O95754-1","ENSEMBL:ENSP00000350547","ENSEMBL:ENSP00000350547.2"],"information_content":100.0}
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{"id":"UniProtKB:O95760-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"interleukin-33 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95760-1","PR:O95760-1","ENSEMBL:ENSP00000370842","ENSEMBL:ENSP00000370842.3","ENSEMBL:ENSP00000507310","ENSEMBL:ENSP00000507310.1"],"information_content":100.0}
{"id":"UniProtKB:O95772-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"STARD3 N-terminal-like protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95772-1","PR:O95772-1","ENSEMBL:ENSP00000009041","ENSEMBL:ENSP00000009041.7","ENSEMBL:ENSP00000379334","ENSEMBL:ENSP00000379334.1"],"information_content":100.0}
{"id":"UniProtKB:O95782-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"AP-2 complex subunit alpha-1 isoform A (human)","equivalent_identifiers":["UniProtKB:O95782-1","PR:O95782-1","ENSEMBL:ENSP00000351926","ENSEMBL:ENSP00000351926.4"],"information_content":100.0}
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{"id":"UniProtKB:O95831-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"apoptosis-inducing factor 1, mitochondrial isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95831-1","PR:O95831-1","ENSEMBL:ENSP00000287295","ENSEMBL:ENSP00000287295.3"],"information_content":100.0}
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{"id":"UniProtKB:O95843-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"guanylyl cyclase-activating protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95843-1","PR:O95843-1","ENSEMBL:ENSP00000261047","ENSEMBL:ENSP00000261047.3"],"information_content":100.0}
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{"id":"UniProtKB:O95864-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"acyl-CoA 6-desaturase isoform 1 (human)","equivalent_identifiers":["UniProtKB:O95864-1","PR:O95864-1","ENSEMBL:ENSP00000278840","ENSEMBL:ENSP00000278840.4"],"information_content":100.0}
{"id":"UniProtKB:O95866-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"megakaryocyte and platelet inhibitory receptor G6b isoform B (human)","equivalent_identifiers":["UniProtKB:O95866-1","PR:O95866-1","ENSEMBL:ENSP00000382944","ENSEMBL:ENSP00000382944.3","ENSEMBL:ENSP00000391097","ENSEMBL:ENSP00000391097.2","ENSEMBL:ENSP00000406706","ENSEMBL:ENSP00000406706.2","ENSEMBL:ENSP00000408430","ENSEMBL:ENSP00000408430.2","ENSEMBL:ENSP00000416447","ENSEMBL:ENSP00000416447.2","ENSEMBL:ENSP00000497720","ENSEMBL:ENSP00000497720.1"],"information_content":100.0}
{"id":"UniProtKB:O95870-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phosphatidylserine lipase ABHD16A isoform 1 (human)","equivalent_identifiers":["UniProtKB:O95870-1","PR:O95870-1","ENSEMBL:ENSP00000379282","ENSEMBL:ENSP00000379282.3","ENSEMBL:ENSP00000395665","ENSEMBL:ENSP00000395665.2"],"information_content":100.0}
{"id":"UniProtKB:O95876-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"WD repeat-containing and planar cell polarity effector protein fritz homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:O95876-1","PR:O95876-1","ENSEMBL:ENSP00000272321","ENSEMBL:ENSP00000272321.7"],"information_content":100.0}
{"id":"UniProtKB:O95900-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"pseudouridylate synthase TRUB2, mitochondrial isoform 1 (human)","equivalent_identifiers":["UniProtKB:O95900-1","PR:O95900-1","ENSEMBL:ENSP00000361982","ENSEMBL:ENSP00000361982.4"],"information_content":100.0}
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{"id":"UniProtKB:P48444-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coatomer subunit delta isoform 1 (human)","equivalent_identifiers":["UniProtKB:P48444-1","PR:P48444-1","ENSEMBL:ENSP00000264028","ENSEMBL:ENSP00000264028.4"],"information_content":100.0}
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{"id":"UniProtKB:P49458-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"signal recognition particle 9 kDa protein isoform 1 (human)","equivalent_identifiers":["UniProtKB:P49458-1","PR:P49458-1","ENSEMBL:ENSP00000305230","ENSEMBL:ENSP00000305230.7"],"information_content":100.0}
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{"id":"UniProtKB:P49588-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"alanine--tRNA ligase, cytoplasmic isoform 1 (human)","equivalent_identifiers":["UniProtKB:P49588-1","PR:P49588-1","ENSEMBL:ENSP00000261772","ENSEMBL:ENSP00000261772.8","ENSEMBL:ENSP00000501924","ENSEMBL:ENSP00000501924.1","ENSEMBL:ENSP00000502247","ENSEMBL:ENSP00000502247.1","ENSEMBL:ENSP00000502797","ENSEMBL:ENSP00000502797.1"],"information_content":100.0}
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{"id":"UniProtKB:P50851-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lipopolysaccharide-responsive and beige-like anchor protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:P50851-1","PR:P50851-1","ENSEMBL:ENSP00000349629","ENSEMBL:ENSP00000349629.3"],"information_content":100.0}
{"id":"UniProtKB:P50897-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"palmitoyl-protein thioesterase 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:P50897-1","PR:P50897-1","ENSEMBL:ENSP00000432053","ENSEMBL:ENSP00000432053.1","ENSEMBL:ENSP00000493153","ENSEMBL:ENSP00000493153.1"],"information_content":100.0}
{"id":"UniProtKB:P50990-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"T-complex protein 1 subunit theta isoform 1 (human)","equivalent_identifiers":["UniProtKB:P50990-1","PR:P50990-1","ENSEMBL:ENSP00000286788","ENSEMBL:ENSP00000286788.4","ENSEMBL:ENSP00000517017","ENSEMBL:ENSP00000517017.1"],"information_content":100.0}
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{"id":"UniProtKB:P51159-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ras-related protein Rab-27A isoform Long (human)","equivalent_identifiers":["UniProtKB:P51159-1","PR:P51159-1","ENSEMBL:ENSP00000337761","ENSEMBL:ENSP00000337761.1","ENSEMBL:ENSP00000379601","ENSEMBL:ENSP00000379601.2","ENSEMBL:ENSP00000455012","ENSEMBL:ENSP00000455012.1","ENSEMBL:ENSP00000456059","ENSEMBL:ENSP00000456059.1","ENSEMBL:ENSP00000513368","ENSEMBL:ENSP00000513368.1","ENSEMBL:ENSP00000513369","ENSEMBL:ENSP00000513369.1"],"information_content":100.0}
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{"id":"UniProtKB:P51674-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"neuronal membrane glycoprotein M6-a isoform 1 (human)","equivalent_identifiers":["UniProtKB:P51674-1","PR:P51674-1","ENSEMBL:ENSP00000280187","ENSEMBL:ENSP00000280187.7","ENSEMBL:ENSP00000377268","ENSEMBL:ENSP00000377268.2"],"information_content":100.0}
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{"id":"UniProtKB:P51685-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"C-C chemokine receptor type 8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:P51685-1","PR:P51685-1","ENSEMBL:ENSP00000326432","ENSEMBL:ENSP00000326432.4"],"information_content":100.0}
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{"id":"UniProtKB:P52630-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"signal transducer and activator of transcription 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:P52630-3","PR:P52630-3","ENSEMBL:ENSP00000315768","ENSEMBL:ENSP00000315768.4","ENSEMBL:ENSP00000513599","ENSEMBL:ENSP00000513599.1"],"information_content":95.4}
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{"id":"UniProtKB:P52701-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DNA mismatch repair protein Msh6 isoform GTBP-N (human)","equivalent_identifiers":["UniProtKB:P52701-1","PR:P52701-1","ENSEMBL:ENSP00000234420","ENSEMBL:ENSP00000234420.5"],"information_content":100.0}
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{"id":"UniProtKB:Q01668-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"voltage-dependent L-type calcium channel subunit alpha-1D isoform Beta-cell-type (human)","equivalent_identifiers":["UniProtKB:Q01668-2","PR:Q01668-2","ENSEMBL:ENSP00000288139","ENSEMBL:ENSP00000288139.3"],"information_content":100.0}
{"id":"UniProtKB:Q01740-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"flavin-containing monooxygenase 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q01740-1","PR:Q01740-1","ENSEMBL:ENSP00000346901","ENSEMBL:ENSP00000346901.4","ENSEMBL:ENSP00000356724","ENSEMBL:ENSP00000356724.3","ENSEMBL:ENSP00000481732","ENSEMBL:ENSP00000481732.1"],"information_content":100.0}
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{"id":"UniProtKB:Q04741-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"homeobox protein EMX1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q04741-1","PR:Q04741-1","ENSEMBL:ENSP00000258106","ENSEMBL:ENSP00000258106.6"],"information_content":100.0}
{"id":"UniProtKB:Q04743-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"homeobox protein EMX2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q04743-1","PR:Q04743-1","ENSEMBL:ENSP00000450962","ENSEMBL:ENSP00000450962.3"],"information_content":100.0}
{"id":"UniProtKB:Q04759-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein kinase C theta type isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q04759-1","PR:Q04759-1","ENSEMBL:ENSP00000263125","ENSEMBL:ENSP00000263125.5"],"information_content":100.0}
{"id":"UniProtKB:Q04760-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lactoylglutathione lyase isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q04760-1","PR:Q04760-1","ENSEMBL:ENSP00000362463","ENSEMBL:ENSP00000362463.3"],"information_content":100.0}
{"id":"UniProtKB:Q04864-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"proto-oncogene c-Rel isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q04864-1","PR:Q04864-1","ENSEMBL:ENSP00000295025","ENSEMBL:ENSP00000295025.7"],"information_content":100.0}
{"id":"UniProtKB:Q04900-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sialomucin core protein 24 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q04900-1","PR:Q04900-1","ENSEMBL:ENSP00000309376","ENSEMBL:ENSP00000309376.4"],"information_content":100.0}
{"id":"UniProtKB:Q04912-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"macrophage-stimulating protein receptor isoform RON (human)","equivalent_identifiers":["UniProtKB:Q04912-1","PR:Q04912-1","ENSEMBL:ENSP00000296474","ENSEMBL:ENSP00000296474.3"],"information_content":100.0}
{"id":"UniProtKB:Q04941-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"proteolipid protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q04941-1","PR:Q04941-1","ENSEMBL:ENSP00000365505","ENSEMBL:ENSP00000365505.5"],"information_content":100.0}
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{"id":"UniProtKB:Q05195-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"max dimerization protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q05195-1","PR:Q05195-1","ENSEMBL:ENSP00000264444","ENSEMBL:ENSP00000264444.2"],"information_content":100.0}
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{"id":"UniProtKB:Q05481-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 91 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q05481-1","PR:Q05481-1","ENSEMBL:ENSP00000300619","ENSEMBL:ENSP00000300619.6"],"information_content":100.0}
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{"id":"UniProtKB:Q05996-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zona pellucida sperm-binding protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q05996-1","PR:Q05996-1","ENSEMBL:ENSP00000458991","ENSEMBL:ENSP00000458991.2","ENSEMBL:ENSP00000460971","ENSEMBL:ENSP00000460971.1","ENSEMBL:ENSP00000492703","ENSEMBL:ENSP00000492703.1"],"information_content":100.0}
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{"id":"UniProtKB:Q06187-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tyrosine-protein kinase BTK isoform BTK-C (human)","equivalent_identifiers":["UniProtKB:Q06187-2","PR:Q06187-2","ENSEMBL:ENSP00000483570","ENSEMBL:ENSP00000483570.1"],"information_content":100.0}
{"id":"UniProtKB:Q06190-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha isoform PR130 (human)","equivalent_identifiers":["UniProtKB:Q06190-1","PR:Q06190-1","ENSEMBL:ENSP00000264977","ENSEMBL:ENSP00000264977.3"],"information_content":100.0}
{"id":"UniProtKB:Q06210-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q06210-1","PR:Q06210-1","ENSEMBL:ENSP00000349860","ENSEMBL:ENSP00000349860.4"],"information_content":100.0}
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{"id":"UniProtKB:Q06323-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"proteasome activator complex subunit 1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q06323-2","PR:Q06323-2","ENSEMBL:ENSP00000372155","ENSEMBL:ENSP00000372155.3","ENSEMBL:ENSP00000496083","ENSEMBL:ENSP00000496083.1"],"information_content":100.0}
{"id":"UniProtKB:Q06330-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"recombining binding protein suppressor of hairless isoform hAPCR-2 (human)","equivalent_identifiers":["UniProtKB:Q06330-1","PR:Q06330-1","ENSEMBL:ENSP00000345206","ENSEMBL:ENSP00000345206.1","ENSEMBL:ENSP00000354528","ENSEMBL:ENSP00000354528.6","ENSEMBL:ENSP00000423644","ENSEMBL:ENSP00000423644.2"],"information_content":100.0}
{"id":"UniProtKB:Q06413-5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"myocyte-specific enhancer factor 2C isoform h5 (human)","equivalent_identifiers":["UniProtKB:Q06413-5","PR:Q06413-5","ENSEMBL:ENSP00000340874","ENSEMBL:ENSP00000340874.5"],"information_content":100.0}
{"id":"UniProtKB:Q06481-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"amyloid beta precursor like protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q06481-1","PR:Q06481-1","ENSEMBL:ENSP00000263574","ENSEMBL:ENSP00000263574.5","ENSEMBL:ENSP00000497691","ENSEMBL:ENSP00000497691.1"],"information_content":100.0}
{"id":"UniProtKB:Q06495-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sodium-dependent phosphate transport protein 2A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q06495-1","PR:Q06495-1","ENSEMBL:ENSP00000321424","ENSEMBL:ENSP00000321424.4"],"information_content":100.0}
{"id":"UniProtKB:Q06547-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GA-binding protein subunit beta-1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q06547-1","PR:Q06547-1","ENSEMBL:ENSP00000220429","ENSEMBL:ENSP00000220429.8"],"information_content":100.0}
{"id":"UniProtKB:Q06587-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase RING1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q06587-1","PR:Q06587-1","ENSEMBL:ENSP00000363787","ENSEMBL:ENSP00000363787.4","ENSEMBL:ENSP00000372699","ENSEMBL:ENSP00000372699.4","ENSEMBL:ENSP00000396271","ENSEMBL:ENSP00000396271.2","ENSEMBL:ENSP00000396439","ENSEMBL:ENSP00000396439.2","ENSEMBL:ENSP00000400572","ENSEMBL:ENSP00000400572.2","ENSEMBL:ENSP00000412190","ENSEMBL:ENSP00000412190.2"],"information_content":100.0}
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{"id":"UniProtKB:Q08211-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATP-dependent RNA helicase A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q08211-1","PR:Q08211-1","ENSEMBL:ENSP00000356520","ENSEMBL:ENSP00000356520.3"],"information_content":100.0}
{"id":"UniProtKB:Q08257-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"quinone oxidoreductase isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q08257-1","PR:Q08257-1","ENSEMBL:ENSP00000339399","ENSEMBL:ENSP00000339399.5","ENSEMBL:ENSP00000399805","ENSEMBL:ENSP00000399805.1"],"information_content":100.0}
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{"id":"UniProtKB:Q13404-7","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin-conjugating enzyme E2 variant 1 isoform h5 (human)","equivalent_identifiers":["UniProtKB:Q13404-7","PR:Q13404-7","ENSEMBL:ENSP00000340305","ENSEMBL:ENSP00000340305.3","ENSEMBL:ENSP00000360742","ENSEMBL:ENSP00000360742.3"],"information_content":100.0}
{"id":"UniProtKB:Q13409-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytoplasmic dynein 1 intermediate chain 2 isoform 2A (human)","equivalent_identifiers":["UniProtKB:Q13409-1","PR:Q13409-1","ENSEMBL:ENSP00000380308","ENSEMBL:ENSP00000380308.3","ENSEMBL:ENSP00000386415","ENSEMBL:ENSP00000386415.1","ENSEMBL:ENSP00000517844","ENSEMBL:ENSP00000517844.1","ENSEMBL:ENSP00000517851","ENSEMBL:ENSP00000517851.1"],"information_content":100.0}
{"id":"UniProtKB:Q13418-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"scaffold protein ILK isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q13418-1","PR:Q13418-1","ENSEMBL:ENSP00000299421","ENSEMBL:ENSP00000299421.4","ENSEMBL:ENSP00000379975","ENSEMBL:ENSP00000379975.2","ENSEMBL:ENSP00000403487","ENSEMBL:ENSP00000403487.2"],"information_content":100.0}
{"id":"UniProtKB:Q13421-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mesothelin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13421-1","PR:Q13421-1","ENSEMBL:ENSP00000372313","ENSEMBL:ENSP00000372313.3"],"information_content":100.0}
{"id":"UniProtKB:Q13422-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DNA-binding protein Ikaros isoform Ik1 (human)","equivalent_identifiers":["UniProtKB:Q13422-1","PR:Q13422-1","ENSEMBL:ENSP00000331614","ENSEMBL:ENSP00000331614.3"],"information_content":100.0}
{"id":"UniProtKB:Q13424-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"alpha-1-syntrophin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13424-1","PR:Q13424-1","ENSEMBL:ENSP00000217381","ENSEMBL:ENSP00000217381.2"],"information_content":100.0}
{"id":"UniProtKB:Q13425-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"beta-2-syntrophin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13425-1","PR:Q13425-1","ENSEMBL:ENSP00000338191","ENSEMBL:ENSP00000338191.4"],"information_content":100.0}
{"id":"UniProtKB:Q13426-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DNA repair protein XRCC4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13426-1","PR:Q13426-1","ENSEMBL:ENSP00000342011","ENSEMBL:ENSP00000342011.6","ENSEMBL:ENSP00000421491","ENSEMBL:ENSP00000421491.1"],"information_content":100.0}
{"id":"UniProtKB:Q13427-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"peptidyl-prolyl cis-trans isomerase G isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13427-1","PR:Q13427-1","ENSEMBL:ENSP00000260970","ENSEMBL:ENSP00000260970.3","ENSEMBL:ENSP00000407083","ENSEMBL:ENSP00000407083.2","ENSEMBL:ENSP00000408683","ENSEMBL:ENSP00000408683.2","ENSEMBL:ENSP00000502997","ENSEMBL:ENSP00000502997.1","ENSEMBL:ENSP00000503136","ENSEMBL:ENSP00000503136.1","ENSEMBL:ENSP00000503525","ENSEMBL:ENSP00000503525.1"],"information_content":100.0}
{"id":"UniProtKB:Q13428-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"treacle protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13428-1","PR:Q13428-1","ENSEMBL:ENSP00000367028","ENSEMBL:ENSP00000367028.4","ENSEMBL:ENSP00000421655","ENSEMBL:ENSP00000421655.2"],"information_content":100.0}
{"id":"UniProtKB:Q13432-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein unc-119 homolog A isoform A (human)","equivalent_identifiers":["UniProtKB:Q13432-1","PR:Q13432-1","ENSEMBL:ENSP00000337040","ENSEMBL:ENSP00000337040.3"],"information_content":100.0}
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{"id":"UniProtKB:Q13438-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein OS-9 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13438-1","PR:Q13438-1","ENSEMBL:ENSP00000318165","ENSEMBL:ENSP00000318165.7"],"information_content":100.0}
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{"id":"UniProtKB:Q13454-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13454-1","PR:Q13454-1","ENSEMBL:ENSP00000424544","ENSEMBL:ENSP00000424544.1"],"information_content":100.0}
{"id":"UniProtKB:Q13459-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"unconventional myosin-IXb isoform Short (human)","equivalent_identifiers":["UniProtKB:Q13459-2","PR:Q13459-2","ENSEMBL:ENSP00000380444","ENSEMBL:ENSP00000380444.2","ENSEMBL:ENSP00000471457","ENSEMBL:ENSP00000471457.1"],"information_content":100.0}
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{"id":"UniProtKB:Q13470-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"non-receptor tyrosine-protein kinase TNK1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13470-1","PR:Q13470-1","ENSEMBL:ENSP00000459799","ENSEMBL:ENSP00000459799.1","ENSEMBL:ENSP00000491136","ENSEMBL:ENSP00000491136.1"],"information_content":100.0}
{"id":"UniProtKB:Q13472-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DNA topoisomerase 3-alpha isoform Long (human)","equivalent_identifiers":["UniProtKB:Q13472-1","PR:Q13472-1","ENSEMBL:ENSP00000321636","ENSEMBL:ENSP00000321636.5","ENSEMBL:ENSP00000491689","ENSEMBL:ENSP00000491689.1"],"information_content":100.0}
{"id":"UniProtKB:Q13474-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dystrophin-related protein 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q13474-1","PR:Q13474-1","ENSEMBL:ENSP00000378635","ENSEMBL:ENSP00000378635.3","ENSEMBL:ENSP00000385038","ENSEMBL:ENSP00000385038.1","ENSEMBL:ENSP00000441051","ENSEMBL:ENSP00000441051.1"],"information_content":100.0}
{"id":"UniProtKB:Q13477-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mucosal addressin cell adhesion molecule 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q13477-1","PR:Q13477-1","ENSEMBL:ENSP00000215637","ENSEMBL:ENSP00000215637.2"],"information_content":95.4}
{"id":"UniProtKB:Q13480-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GRB2-associated-binding protein 1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q13480-2","PR:Q13480-2","ENSEMBL:ENSP00000262995","ENSEMBL:ENSP00000262995.4"],"information_content":100.0}
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{"id":"UniProtKB:Q13490-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"baculoviral IAP repeat-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13490-1","PR:Q13490-1","ENSEMBL:ENSP00000227758","ENSEMBL:ENSP00000227758.2","ENSEMBL:ENSP00000477613","ENSEMBL:ENSP00000477613.1"],"information_content":100.0}
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{"id":"UniProtKB:Q13501-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sequestosome-1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13501-1","PR:Q13501-1","ENSEMBL:ENSP00000374455","ENSEMBL:ENSP00000374455.4","ENSEMBL:ENSP00000491834","ENSEMBL:ENSP00000491834.2","ENSEMBL:ENSP00000495843","ENSEMBL:ENSP00000495843.2"],"information_content":100.0}
{"id":"UniProtKB:Q13505-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"metaxin-1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13505-1","PR:Q13505-1","ENSEMBL:ENSP00000357360","ENSEMBL:ENSP00000357360.3"],"information_content":100.0}
{"id":"UniProtKB:Q13506-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NGFI-A-binding protein 1 isoform Long (human)","equivalent_identifiers":["UniProtKB:Q13506-1","PR:Q13506-1","ENSEMBL:ENSP00000336894","ENSEMBL:ENSP00000336894.5","ENSEMBL:ENSP00000387089","ENSEMBL:ENSP00000387089.1"],"information_content":100.0}
{"id":"UniProtKB:Q13507-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"short transient receptor potential channel 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13507-2","PR:Q13507-2","ENSEMBL:ENSP00000368966","ENSEMBL:ENSP00000368966.3"],"information_content":100.0}
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{"id":"UniProtKB:Q13510-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"acid ceramidase isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q13510-2","PR:Q13510-2","ENSEMBL:ENSP00000371152","ENSEMBL:ENSP00000371152.4"],"information_content":100.0}
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{"id":"UniProtKB:Q13530-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine incorporator 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q13530-1","PR:Q13530-1","ENSEMBL:ENSP00000255175","ENSEMBL:ENSP00000255175.1","ENSEMBL:ENSP00000340243","ENSEMBL:ENSP00000340243.4"],"information_content":100.0}
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{"id":"UniProtKB:Q13753-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"laminin subunit gamma-2 isoform Long (human)","equivalent_identifiers":["UniProtKB:Q13753-1","PR:Q13753-1","ENSEMBL:ENSP00000264144","ENSEMBL:ENSP00000264144.4"],"information_content":100.0}
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{"id":"UniProtKB:Q14141-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"septin-6 isoform II (human)","equivalent_identifiers":["UniProtKB:Q14141-1","PR:Q14141-1","ENSEMBL:ENSP00000341524","ENSEMBL:ENSP00000341524.5"],"information_content":100.0}
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{"id":"UniProtKB:Q14152-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"eukaryotic translation initiation factor 3 subunit A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q14152-1","PR:Q14152-1","ENSEMBL:ENSP00000358140","ENSEMBL:ENSP00000358140.3"],"information_content":100.0}
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{"id":"UniProtKB:Q14376-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"UDP-glucose 4-epimerase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q14376-1","PR:Q14376-1","ENSEMBL:ENSP00000363621","ENSEMBL:ENSP00000363621.3","ENSEMBL:ENSP00000483375","ENSEMBL:ENSP00000483375.1"],"information_content":100.0}
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{"id":"UniProtKB:Q14444-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"caprin-1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q14444-1","PR:Q14444-1","ENSEMBL:ENSP00000340329","ENSEMBL:ENSP00000340329.4","ENSEMBL:ENSP00000434150","ENSEMBL:ENSP00000434150.1"],"information_content":100.0}
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{"id":"UniProtKB:Q14680-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"maternal embryonic leucine zipper kinase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q14680-1","PR:Q14680-1","ENSEMBL:ENSP00000298048","ENSEMBL:ENSP00000298048.2"],"information_content":100.0}
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{"id":"UniProtKB:Q14693-7","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phosphatidate phosphatase LPIN1 isoform h7 (human)","equivalent_identifiers":["UniProtKB:Q14693-7","PR:Q14693-7","ENSEMBL:ENSP00000397908","ENSEMBL:ENSP00000397908.2"],"information_content":100.0}
{"id":"UniProtKB:Q14694-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin carboxyl-terminal hydrolase 10 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q14694-3","PR:Q14694-3","ENSEMBL:ENSP00000457411","ENSEMBL:ENSP00000457411.1"],"information_content":100.0}
{"id":"UniProtKB:Q14696-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"LRP chaperone MESD isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q14696-1","PR:Q14696-1","ENSEMBL:ENSP00000261758","ENSEMBL:ENSP00000261758.4","ENSEMBL:ENSP00000453430","ENSEMBL:ENSP00000453430.1","ENSEMBL:ENSP00000482455","ENSEMBL:ENSP00000482455.1"],"information_content":100.0}
{"id":"UniProtKB:Q14697-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"neutral alpha-glucosidase AB isoform 2 (human)","equivalent_identifiers":["UniProtKB:Q14697-2","PR:Q14697-2","ENSEMBL:ENSP00000340466","ENSEMBL:ENSP00000340466.4"],"information_content":100.0}
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{"id":"UniProtKB:Q14722-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"voltage-gated potassium channel subunit beta-1 isoform hKvB1.3 (human)","equivalent_identifiers":["UniProtKB:Q14722-1","PR:Q14722-1","ENSEMBL:ENSP00000419952","ENSEMBL:ENSP00000419952.1"],"information_content":100.0}
{"id":"UniProtKB:Q14738-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform isoform hDelta-1 (human)","equivalent_identifiers":["UniProtKB:Q14738-1","PR:Q14738-1","ENSEMBL:ENSP00000417963","ENSEMBL:ENSP00000417963.1"],"information_content":100.0}
{"id":"UniProtKB:Q14746-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"conserved oligomeric Golgi complex subunit 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q14746-1","PR:Q14746-1","ENSEMBL:ENSP00000355629","ENSEMBL:ENSP00000355629.4"],"information_content":100.0}
{"id":"UniProtKB:Q14766-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"latent-transforming growth factor beta-binding protein 1 isoform Long (human)","equivalent_identifiers":["UniProtKB:Q14766-1","PR:Q14766-1","ENSEMBL:ENSP00000386043","ENSEMBL:ENSP00000386043.2"],"information_content":95.4}
{"id":"UniProtKB:Q14773-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"intercellular adhesion molecule 4 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q14773-3","PR:Q14773-3","ENSEMBL:ENSP00000342114","ENSEMBL:ENSP00000342114.3"],"information_content":100.0}
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{"id":"UniProtKB:Q147X3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"N-alpha-acetyltransferase 30 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q147X3-1","PR:Q147X3-1","ENSEMBL:ENSP00000452521","ENSEMBL:ENSP00000452521.1"],"information_content":100.0}
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{"id":"UniProtKB:Q14847-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"LIM and SH3 domain protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q14847-1","PR:Q14847-1","ENSEMBL:ENSP00000325240","ENSEMBL:ENSP00000325240.6"],"information_content":100.0}
{"id":"UniProtKB:Q14849-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"StAR-related lipid transfer protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q14849-1","PR:Q14849-1","ENSEMBL:ENSP00000337446","ENSEMBL:ENSP00000337446.5"],"information_content":100.0}
{"id":"UniProtKB:Q14865-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"AT-rich interactive domain-containing protein 5B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q14865-1","PR:Q14865-1","ENSEMBL:ENSP00000279873","ENSEMBL:ENSP00000279873.7"],"information_content":100.0}
{"id":"UniProtKB:Q14896-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"myosin-binding protein C, cardiac-type isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q14896-1","PR:Q14896-1","ENSEMBL:ENSP00000442795","ENSEMBL:ENSP00000442795.1"],"information_content":100.0}
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{"id":"UniProtKB:Q14978-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nucleolar and coiled-body phosphoprotein 1 isoform Beta (human)","equivalent_identifiers":["UniProtKB:Q14978-2","PR:Q14978-2","ENSEMBL:ENSP00000385410","ENSEMBL:ENSP00000385410.1"],"information_content":100.0}
{"id":"UniProtKB:Q14980-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nuclear mitotic apparatus protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q14980-1","PR:Q14980-1","ENSEMBL:ENSP00000377298","ENSEMBL:ENSP00000377298.4"],"information_content":100.0}
{"id":"UniProtKB:Q14982-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"opioid-binding protein/cell adhesion molecule isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q14982-1","PR:Q14982-1","ENSEMBL:ENSP00000330862","ENSEMBL:ENSP00000330862.7"],"information_content":100.0}
{"id":"UniProtKB:Q14994-8","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nuclear receptor subfamily 1 group I member 3 isoform h8 (human)","equivalent_identifiers":["UniProtKB:Q14994-8","PR:Q14994-8","ENSEMBL:ENSP00000356958","ENSEMBL:ENSP00000356958.2","ENSEMBL:ENSP00000356959","ENSEMBL:ENSP00000356959.2"],"information_content":100.0}
{"id":"UniProtKB:Q14997-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"proteasome activator complex subunit 4 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q14997-1","PR:Q14997-1","ENSEMBL:ENSP00000384211","ENSEMBL:ENSP00000384211.1"],"information_content":100.0}
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{"id":"UniProtKB:Q149N8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase SHPRH isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q149N8-1","PR:Q149N8-1","ENSEMBL:ENSP00000275233","ENSEMBL:ENSP00000275233.7","ENSEMBL:ENSP00000356475","ENSEMBL:ENSP00000356475.2"],"information_content":100.0}
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{"id":"UniProtKB:Q15149-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"plectin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q15149-1","PR:Q15149-1","ENSEMBL:ENSP00000323856","ENSEMBL:ENSP00000323856.4"],"information_content":100.0}
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{"id":"UniProtKB:Q15406-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nuclear receptor subfamily 6 group A member 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q15406-1","PR:Q15406-1","ENSEMBL:ENSP00000420267","ENSEMBL:ENSP00000420267.1"],"information_content":100.0}
{"id":"UniProtKB:Q15413-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ryanodine receptor 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q15413-1","PR:Q15413-1","ENSEMBL:ENSP00000489262","ENSEMBL:ENSP00000489262.1"],"information_content":100.0}
{"id":"UniProtKB:Q15415-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RNA-binding motif protein, Y chromosome, family 1 member F/J isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q15415-1","PR:Q15415-1","ENSEMBL:ENSP00000250831","ENSEMBL:ENSP00000250831.5","ENSEMBL:ENSP00000307155","ENSEMBL:ENSP00000307155.7"],"information_content":100.0}
{"id":"UniProtKB:Q15417-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"calponin-3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q15417-1","PR:Q15417-1","ENSEMBL:ENSP00000359225","ENSEMBL:ENSP00000359225.4"],"information_content":100.0}
{"id":"UniProtKB:Q15418-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ribosomal protein S6 kinase alpha-1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q15418-2","PR:Q15418-2","ENSEMBL:ENSP00000435412","ENSEMBL:ENSP00000435412.1","ENSEMBL:ENSP00000487349","ENSEMBL:ENSP00000487349.1"],"information_content":100.0}
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{"id":"UniProtKB:Q15435-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein phosphatase 1 regulatory subunit 7 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q15435-1","PR:Q15435-1","ENSEMBL:ENSP00000234038","ENSEMBL:ENSP00000234038.6","ENSEMBL:ENSP00000385657","ENSEMBL:ENSP00000385657.1"],"information_content":100.0}
{"id":"UniProtKB:Q15436-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein transport protein Sec23A isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q15436-1","PR:Q15436-1","ENSEMBL:ENSP00000306881","ENSEMBL:ENSP00000306881.6"],"information_content":100.0}
{"id":"UniProtKB:Q15438-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytohesin-1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q15438-1","PR:Q15438-1","ENSEMBL:ENSP00000389095","ENSEMBL:ENSP00000389095.3"],"information_content":100.0}
{"id":"UniProtKB:Q15459-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"splicing factor 3A subunit 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q15459-1","PR:Q15459-1","ENSEMBL:ENSP00000215793","ENSEMBL:ENSP00000215793.7"],"information_content":100.0}
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{"id":"UniProtKB:Q15468-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SCL-interrupting locus protein isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q15468-2","PR:Q15468-2","ENSEMBL:ENSP00000360944","ENSEMBL:ENSP00000360944.3"],"information_content":100.0}
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{"id":"UniProtKB:Q15700-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"disks large homolog 2 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q15700-2","PR:Q15700-2","ENSEMBL:ENSP00000365272","ENSEMBL:ENSP00000365272.2"],"information_content":100.0}
{"id":"UniProtKB:Q15714-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"TSC22 domain family protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q15714-1","PR:Q15714-1","ENSEMBL:ENSP00000397435","ENSEMBL:ENSP00000397435.2"],"information_content":100.0}
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{"id":"UniProtKB:Q16236-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nuclear factor erythroid 2-related factor 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q16236-1","PR:Q16236-1","ENSEMBL:ENSP00000380252","ENSEMBL:ENSP00000380252.3"],"information_content":100.0}
{"id":"UniProtKB:Q16270-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"insulin-like growth factor-binding protein 7 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q16270-1","PR:Q16270-1","ENSEMBL:ENSP00000295666","ENSEMBL:ENSP00000295666.4"],"information_content":100.0}
{"id":"UniProtKB:Q16281-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cyclic nucleotide-gated channel alpha-3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q16281-1","PR:Q16281-1","ENSEMBL:ENSP00000272602","ENSEMBL:ENSP00000272602.2"],"information_content":100.0}
{"id":"UniProtKB:Q16342-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"programmed cell death protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q16342-1","PR:Q16342-1","ENSEMBL:ENSP00000439467","ENSEMBL:ENSP00000439467.1"],"information_content":100.0}
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{"id":"UniProtKB:Q16363-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"laminin subunit alpha-4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q16363-1","PR:Q16363-1","ENSEMBL:ENSP00000230538","ENSEMBL:ENSP00000230538.7"],"information_content":100.0}
{"id":"UniProtKB:Q16378-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"proline-rich protein 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q16378-1","PR:Q16378-1","ENSEMBL:ENSP00000228811","ENSEMBL:ENSP00000228811.4","ENSEMBL:ENSP00000459468","ENSEMBL:ENSP00000459468.1","ENSEMBL:ENSP00000477689","ENSEMBL:ENSP00000477689.1"],"information_content":100.0}
{"id":"UniProtKB:Q16385-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein SSX2 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q16385-2","PR:Q16385-2","ENSEMBL:ENSP00000338796","ENSEMBL:ENSP00000338796.5","ENSEMBL:ENSP00000477922","ENSEMBL:ENSP00000477922.1"],"information_content":100.0}
{"id":"UniProtKB:Q16401-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"26S proteasome non-ATPase regulatory subunit 5 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q16401-1","PR:Q16401-1","ENSEMBL:ENSP00000210313","ENSEMBL:ENSP00000210313.2"],"information_content":100.0}
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{"id":"UniProtKB:Q16515-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"acid-sensing ion channel 2 isoform 2 (human)","equivalent_identifiers":["UniProtKB:Q16515-2","PR:Q16515-2","ENSEMBL:ENSP00000225823","ENSEMBL:ENSP00000225823.2"],"information_content":100.0}
{"id":"UniProtKB:Q16517-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"neuronatin isoform Alpha (human)","equivalent_identifiers":["UniProtKB:Q16517-1","PR:Q16517-1","ENSEMBL:ENSP00000497164","ENSEMBL:ENSP00000497164.1"],"information_content":100.0}
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{"id":"UniProtKB:Q16560-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"U11/U12 small nuclear ribonucleoprotein 35 kDa protein isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q16560-2","PR:Q16560-2","ENSEMBL:ENSP00000403310","ENSEMBL:ENSP00000403310.2"],"information_content":100.0}
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{"id":"UniProtKB:Q16584-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitogen-activated protein kinase kinase kinase 11 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q16584-1","PR:Q16584-1","ENSEMBL:ENSP00000309597","ENSEMBL:ENSP00000309597.3"],"information_content":100.0}
{"id":"UniProtKB:Q16585-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"beta-sarcoglycan isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q16585-1","PR:Q16585-1","ENSEMBL:ENSP00000370839","ENSEMBL:ENSP00000370839.6"],"information_content":100.0}
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{"id":"UniProtKB:Q16611-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Bcl-2 homologous antagonist/killer isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q16611-1","PR:Q16611-1","ENSEMBL:ENSP00000363591","ENSEMBL:ENSP00000363591.3"],"information_content":100.0}
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{"id":"UniProtKB:Q16613-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serotonin N-acetyltransferase isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q16613-2","PR:Q16613-2","ENSEMBL:ENSP00000250615","ENSEMBL:ENSP00000250615.2"],"information_content":100.0}
{"id":"UniProtKB:Q16619-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cardiotrophin-1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q16619-1","PR:Q16619-1","ENSEMBL:ENSP00000279804","ENSEMBL:ENSP00000279804.2"],"information_content":100.0}
{"id":"UniProtKB:Q16620-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"BDNF/NT-3 growth factors receptor isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q16620-4","PR:Q16620-4","ENSEMBL:ENSP00000277120","ENSEMBL:ENSP00000277120.3","ENSEMBL:ENSP00000510134","ENSEMBL:ENSP00000510134.1"],"information_content":100.0}
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{"id":"UniProtKB:Q16625-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"occludin isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q16625-1","PR:Q16625-1","ENSEMBL:ENSP00000347379","ENSEMBL:ENSP00000347379.2","ENSEMBL:ENSP00000379719","ENSEMBL:ENSP00000379719.2","ENSEMBL:ENSP00000505426","ENSEMBL:ENSP00000505426.1","ENSEMBL:ENSP00000505541","ENSEMBL:ENSP00000505541.1","ENSEMBL:ENSP00000506162","ENSEMBL:ENSP00000506162.1"],"information_content":100.0}
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{"id":"UniProtKB:Q16864-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"V-type proton ATPase subunit F isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q16864-2","PR:Q16864-2","ENSEMBL:ENSP00000417378","ENSEMBL:ENSP00000417378.1"],"information_content":100.0}
{"id":"UniProtKB:Q16877-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q16877-1","PR:Q16877-1","ENSEMBL:ENSP00000232375","ENSEMBL:ENSP00000232375.3"],"information_content":100.0}
{"id":"UniProtKB:Q16881-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"thioredoxin reductase 1, cytoplasmic isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q16881-1","PR:Q16881-1","ENSEMBL:ENSP00000434516","ENSEMBL:ENSP00000434516.1"],"information_content":100.0}
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{"id":"UniProtKB:Q18PE1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein Dok-7 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q18PE1-1","PR:Q18PE1-1","ENSEMBL:ENSP00000344432","ENSEMBL:ENSP00000344432.5"],"information_content":100.0}
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{"id":"UniProtKB:Q29980-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"MHC class I polypeptide-related sequence B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q29980-1","PR:Q29980-1","ENSEMBL:ENSP00000252229","ENSEMBL:ENSP00000252229.6","ENSEMBL:ENSP00000407561","ENSEMBL:ENSP00000407561.2"],"information_content":100.0}
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{"id":"UniProtKB:Q2KJY2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kinesin-like protein KIF26B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2KJY2-1","PR:Q2KJY2-1","ENSEMBL:ENSP00000385545","ENSEMBL:ENSP00000385545.2"],"information_content":100.0}
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{"id":"UniProtKB:Q2M1K9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 423 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2M1K9-1","PR:Q2M1K9-1","ENSEMBL:ENSP00000455426","ENSEMBL:ENSP00000455426.1"],"information_content":100.0}
{"id":"UniProtKB:Q2M218-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 630 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2M218-1","PR:Q2M218-1","ENSEMBL:ENSP00000354683","ENSEMBL:ENSP00000354683.4","ENSEMBL:ENSP00000386393","ENSEMBL:ENSP00000386393.3"],"information_content":100.0}
{"id":"UniProtKB:Q2M296-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"methenyltetrahydrofolate synthase domain-containing protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2M296-1","PR:Q2M296-1","ENSEMBL:ENSP00000354152","ENSEMBL:ENSP00000354152.6"],"information_content":100.0}
{"id":"UniProtKB:Q2M2H8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"probable maltase-glucoamylase 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2M2H8-1","PR:Q2M2H8-1","ENSEMBL:ENSP00000420449","ENSEMBL:ENSP00000420449.3","ENSEMBL:ENSP00000488423","ENSEMBL:ENSP00000488423.1"],"information_content":100.0}
{"id":"UniProtKB:Q2M2I8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"AP2-associated protein kinase 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2M2I8-1","PR:Q2M2I8-1","ENSEMBL:ENSP00000386456","ENSEMBL:ENSP00000386456.3"],"information_content":100.0}
{"id":"UniProtKB:Q2M2Z5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centrosomal protein kizuna isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2M2Z5-1","PR:Q2M2Z5-1","ENSEMBL:ENSP00000479542","ENSEMBL:ENSP00000479542.1"],"information_content":100.0}
{"id":"UniProtKB:Q2M385-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"macrophage-expressed gene 1 protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2M385-1","PR:Q2M385-1","ENSEMBL:ENSP00000354335","ENSEMBL:ENSP00000354335.3"],"information_content":100.0}
{"id":"UniProtKB:Q2M3G0-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATP-binding cassette sub-family B member 5 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q2M3G0-4","PR:Q2M3G0-4","ENSEMBL:ENSP00000384881","ENSEMBL:ENSP00000384881.2"],"information_content":100.0}
{"id":"UniProtKB:Q2M3G4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein Shroom1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2M3G4-1","PR:Q2M3G4-1","ENSEMBL:ENSP00000367950","ENSEMBL:ENSP00000367950.3","ENSEMBL:ENSP00000478436","ENSEMBL:ENSP00000478436.1"],"information_content":100.0}
{"id":"UniProtKB:Q2M3M2-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sodium/glucose cotransporter 4 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q2M3M2-2","PR:Q2M3M2-2","ENSEMBL:ENSP00000236495","ENSEMBL:ENSP00000236495.5"],"information_content":100.0}
{"id":"UniProtKB:Q2M3R5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"solute carrier family 35 member G1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2M3R5-1","PR:Q2M3R5-1","ENSEMBL:ENSP00000400932","ENSEMBL:ENSP00000400932.1"],"information_content":100.0}
{"id":"UniProtKB:Q2M3W8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 181 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2M3W8-1","PR:Q2M3W8-1","ENSEMBL:ENSP00000420727","ENSEMBL:ENSP00000420727.1"],"information_content":100.0}
{"id":"UniProtKB:Q2M3X9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 674 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2M3X9-1","PR:Q2M3X9-1","ENSEMBL:ENSP00000429148","ENSEMBL:ENSP00000429148.1"],"information_content":100.0}
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{"id":"UniProtKB:Q2MKA7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"R-spondin-1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2MKA7-1","PR:Q2MKA7-1","ENSEMBL:ENSP00000348944","ENSEMBL:ENSP00000348944.2","ENSEMBL:ENSP00000383846","ENSEMBL:ENSP00000383846.1"],"information_content":100.0}
{"id":"UniProtKB:Q2MV58-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tectonic-1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q2MV58-2","PR:Q2MV58-2","ENSEMBL:ENSP00000380779","ENSEMBL:ENSP00000380779.4"],"information_content":100.0}
{"id":"UniProtKB:Q2NKJ3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"CST complex subunit CTC1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2NKJ3-1","PR:Q2NKJ3-1","ENSEMBL:ENSP00000498499","ENSEMBL:ENSP00000498499.1"],"information_content":100.0}
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{"id":"UniProtKB:Q2PPJ7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ral GTPase-activating protein subunit alpha-2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2PPJ7-1","PR:Q2PPJ7-1","ENSEMBL:ENSP00000202677","ENSEMBL:ENSP00000202677.6"],"information_content":100.0}
{"id":"UniProtKB:Q2PZI1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein C-mannosyl-transferase DPY19L1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2PZI1-1","PR:Q2PZI1-1","ENSEMBL:ENSP00000308695","ENSEMBL:ENSP00000308695.4"],"information_content":100.0}
{"id":"UniProtKB:Q2QGD7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein ZXDC isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2QGD7-1","PR:Q2QGD7-1","ENSEMBL:ENSP00000374359","ENSEMBL:ENSP00000374359.3"],"information_content":100.0}
{"id":"UniProtKB:Q2QL34-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Mpv17-like protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2QL34-1","PR:Q2QL34-1","ENSEMBL:ENSP00000379669","ENSEMBL:ENSP00000379669.3","ENSEMBL:ENSP00000484675","ENSEMBL:ENSP00000484675.1"],"information_content":100.0}
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{"id":"UniProtKB:Q2TAC2-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coiled-coil domain-containing protein 57 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q2TAC2-2","PR:Q2TAC2-2","ENSEMBL:ENSP00000376154","ENSEMBL:ENSP00000376154.3"],"information_content":100.0}
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{"id":"UniProtKB:Q2TBC4-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"prickle-like protein 4 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q2TBC4-3","PR:Q2TBC4-3","ENSEMBL:ENSP00000404911","ENSEMBL:ENSP00000404911.1"],"information_content":100.0}
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{"id":"UniProtKB:Q2V2M9-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FH1/FH2 domain-containing protein 3 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q2V2M9-4","PR:Q2V2M9-4","ENSEMBL:ENSP00000466937","ENSEMBL:ENSP00000466937.1"],"information_content":100.0}
{"id":"UniProtKB:Q2VPA4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"complement component receptor 1-like protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2VPA4-1","PR:Q2VPA4-1","ENSEMBL:ENSP00000421736","ENSEMBL:ENSP00000421736.2"],"information_content":100.0}
{"id":"UniProtKB:Q2VPJ9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine-rich repeat-containing protein 75B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2VPJ9-1","PR:Q2VPJ9-1","ENSEMBL:ENSP00000320520","ENSEMBL:ENSP00000320520.8"],"information_content":100.0}
{"id":"UniProtKB:Q2VWA4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SKI family transcriptional corepressor 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2VWA4-1","PR:Q2VWA4-1","ENSEMBL:ENSP00000414750","ENSEMBL:ENSP00000414750.3","ENSEMBL:ENSP00000483333","ENSEMBL:ENSP00000483333.1"],"information_content":100.0}
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{"id":"UniProtKB:Q2YD98-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"UV-stimulated scaffold protein A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q2YD98-1","PR:Q2YD98-1","ENSEMBL:ENSP00000374501","ENSEMBL:ENSP00000374501.4","ENSEMBL:ENSP00000421741","ENSEMBL:ENSP00000421741.1","ENSEMBL:ENSP00000425130","ENSEMBL:ENSP00000425130.1","ENSEMBL:ENSP00000503948","ENSEMBL:ENSP00000503948.1","ENSEMBL:ENSP00000504544","ENSEMBL:ENSP00000504544.1"],"information_content":100.0}
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{"id":"UniProtKB:Q3SXY7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3SXY7-1","PR:Q3SXY7-1","ENSEMBL:ENSP00000469759","ENSEMBL:ENSP00000469759.1"],"information_content":100.0}
{"id":"UniProtKB:Q3SXY8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ADP-ribosylation factor-like protein 13B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3SXY8-1","PR:Q3SXY8-1","ENSEMBL:ENSP00000377769","ENSEMBL:ENSP00000377769.3","ENSEMBL:ENSP00000420780","ENSEMBL:ENSP00000420780.1"],"information_content":100.0}
{"id":"UniProtKB:Q3SXZ3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 718 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3SXZ3-1","PR:Q3SXZ3-1","ENSEMBL:ENSP00000480556","ENSEMBL:ENSP00000480556.1"],"information_content":100.0}
{"id":"UniProtKB:Q3SXZ7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"probable tubulin polyglutamylase TTLL9 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3SXZ7-1","PR:Q3SXZ7-1","ENSEMBL:ENSP00000365105","ENSEMBL:ENSP00000365105.4","ENSEMBL:ENSP00000442515","ENSEMBL:ENSP00000442515.1"],"information_content":100.0}
{"id":"UniProtKB:Q3SY00-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"testis-specific protein 10-interacting protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3SY00-1","PR:Q3SY00-1","ENSEMBL:ENSP00000484252","ENSEMBL:ENSP00000484252.1"],"information_content":100.0}
{"id":"UniProtKB:Q3SY52-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein interacting with ribonucleoprotein K isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3SY52-1","PR:Q3SY52-1","ENSEMBL:ENSP00000472867","ENSEMBL:ENSP00000472867.1"],"information_content":100.0}
{"id":"UniProtKB:Q3SY69-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q3SY69-1","PR:Q3SY69-1","ENSEMBL:ENSP00000258494","ENSEMBL:ENSP00000258494.9"],"information_content":100.0}
{"id":"UniProtKB:Q3SY77-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"UDP-glucuronosyltransferase 3A2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3SY77-1","PR:Q3SY77-1","ENSEMBL:ENSP00000282507","ENSEMBL:ENSP00000282507.3"],"information_content":100.0}
{"id":"UniProtKB:Q3SYC2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"2-acylglycerol O-acyltransferase 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q3SYC2-1","PR:Q3SYC2-1","ENSEMBL:ENSP00000198801","ENSEMBL:ENSP00000198801.5"],"information_content":100.0}
{"id":"UniProtKB:Q3SYG4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein PTHB1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3SYG4-1","PR:Q3SYG4-1","ENSEMBL:ENSP00000242067","ENSEMBL:ENSP00000242067.6"],"information_content":100.0}
{"id":"UniProtKB:Q3T8J9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GON-4-like protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3T8J9-1","PR:Q3T8J9-1","ENSEMBL:ENSP00000357315","ENSEMBL:ENSP00000357315.1","ENSEMBL:ENSP00000483100","ENSEMBL:ENSP00000483100.1"],"information_content":100.0}
{"id":"UniProtKB:Q3T906-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3T906-1","PR:Q3T906-1","ENSEMBL:ENSP00000299314","ENSEMBL:ENSP00000299314.7"],"information_content":100.0}
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{"id":"UniProtKB:Q3V6T2-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"girdin isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q3V6T2-3","PR:Q3V6T2-3","ENSEMBL:ENSP00000338728","ENSEMBL:ENSP00000338728.6"],"information_content":100.0}
{"id":"UniProtKB:Q3YBM2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 176B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3YBM2-1","PR:Q3YBM2-1","ENSEMBL:ENSP00000318409","ENSEMBL:ENSP00000318409.5","ENSEMBL:ENSP00000397810","ENSEMBL:ENSP00000397810.2","ENSEMBL:ENSP00000410269","ENSEMBL:ENSP00000410269.2","ENSEMBL:ENSP00000419258","ENSEMBL:ENSP00000419258.1"],"information_content":100.0}
{"id":"UniProtKB:Q3YBR2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transforming growth factor beta regulator 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3YBR2-1","PR:Q3YBR2-1","ENSEMBL:ENSP00000409016","ENSEMBL:ENSP00000409016.3"],"information_content":100.0}
{"id":"UniProtKB:Q3YEC7-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Rab-like protein 6 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q3YEC7-2","PR:Q3YEC7-2","ENSEMBL:ENSP00000360727","ENSEMBL:ENSP00000360727.6"],"information_content":100.0}
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{"id":"UniProtKB:Q3ZCQ8-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitochondrial import inner membrane translocase subunit TIM50 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q3ZCQ8-2","PR:Q3ZCQ8-2","ENSEMBL:ENSP00000445806","ENSEMBL:ENSP00000445806.2"],"information_content":100.0}
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{"id":"UniProtKB:Q3ZCV2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ciliary microtubule-associated protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3ZCV2-1","PR:Q3ZCV2-1","ENSEMBL:ENSP00000360320","ENSEMBL:ENSP00000360320.3"],"information_content":100.0}
{"id":"UniProtKB:Q3ZCX4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 568 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q3ZCX4-1","PR:Q3ZCX4-1","ENSEMBL:ENSP00000334685","ENSEMBL:ENSP00000334685.7","ENSEMBL:ENSP00000516249","ENSEMBL:ENSP00000516249.1"],"information_content":100.0}
{"id":"UniProtKB:Q400G9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"archaemetzincin-1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q400G9-1","PR:Q400G9-1","ENSEMBL:ENSP00000308149","ENSEMBL:ENSP00000308149.4","ENSEMBL:ENSP00000506962","ENSEMBL:ENSP00000506962.1"],"information_content":100.0}
{"id":"UniProtKB:Q401N2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ligand-gated cation channel ZACN isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q401N2-1","PR:Q401N2-1","ENSEMBL:ENSP00000334854","ENSEMBL:ENSP00000334854.5"],"information_content":100.0}
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{"id":"UniProtKB:Q494U1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"pleckstrin homology domain-containing family N member 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q494U1-1","PR:Q494U1-1","ENSEMBL:ENSP00000368720","ENSEMBL:ENSP00000368720.3"],"information_content":100.0}
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{"id":"UniProtKB:Q495T6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"membrane metallo-endopeptidase-like 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q495T6-1","PR:Q495T6-1","ENSEMBL:ENSP00000367668","ENSEMBL:ENSP00000367668.3","ENSEMBL:ENSP00000484606","ENSEMBL:ENSP00000484606.1"],"information_content":100.0}
{"id":"UniProtKB:Q495W5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"alpha-(1,3)-fucosyltransferase 11 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q495W5-1","PR:Q495W5-1","ENSEMBL:ENSP00000361932","ENSEMBL:ENSP00000361932.3"],"information_content":100.0}
{"id":"UniProtKB:Q495Y8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"speedy protein E2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q495Y8-1","PR:Q495Y8-1","ENSEMBL:ENSP00000421686","ENSEMBL:ENSP00000421686.1","ENSEMBL:ENSP00000509749","ENSEMBL:ENSP00000509749.1"],"information_content":100.0}
{"id":"UniProtKB:Q496A3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"spermatogenesis-associated serine-rich protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q496A3-1","PR:Q496A3-1","ENSEMBL:ENSP00000424400","ENSEMBL:ENSP00000424400.1","ENSEMBL:ENSP00000437552","ENSEMBL:ENSP00000437552.1","ENSEMBL:ENSP00000501191","ENSEMBL:ENSP00000501191.1"],"information_content":100.0}
{"id":"UniProtKB:Q496M5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"inactive serine/threonine-protein kinase PLK5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q496M5-1","PR:Q496M5-1","ENSEMBL:ENSP00000466248","ENSEMBL:ENSP00000466248.1","ENSEMBL:ENSP00000468376","ENSEMBL:ENSP00000468376.1","ENSEMBL:ENSP00000501198","ENSEMBL:ENSP00000501198.1"],"information_content":100.0}
{"id":"UniProtKB:Q496Y0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"LON peptidase N-terminal domain and RING finger protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q496Y0-1","PR:Q496Y0-1","ENSEMBL:ENSP00000360690","ENSEMBL:ENSP00000360690.3"],"information_content":100.0}
{"id":"UniProtKB:Q49A17-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"polypeptide N-acetylgalactosaminyltransferase-like 6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q49A17-1","PR:Q49A17-1","ENSEMBL:ENSP00000423313","ENSEMBL:ENSP00000423313.1"],"information_content":100.0}
{"id":"UniProtKB:Q49A26-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytokine-like nuclear factor N-PAC isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q49A26-1","PR:Q49A26-1","ENSEMBL:ENSP00000322716","ENSEMBL:ENSP00000322716.6"],"information_content":100.0}
{"id":"UniProtKB:Q49A88-6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coiled-coil domain-containing protein 14 isoform h6 (human)","equivalent_identifiers":["UniProtKB:Q49A88-6","PR:Q49A88-6","ENSEMBL:ENSP00000420180","ENSEMBL:ENSP00000420180.3"],"information_content":100.0}
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{"id":"UniProtKB:Q4V328-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GRIP1-associated protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q4V328-1","PR:Q4V328-1","ENSEMBL:ENSP00000365606","ENSEMBL:ENSP00000365606.5","ENSEMBL:ENSP00000518067","ENSEMBL:ENSP00000518067.1"],"information_content":100.0}
{"id":"UniProtKB:Q4VC05-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"B-cell CLL/lymphoma 7 protein family member A isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q4VC05-2","PR:Q4VC05-2","ENSEMBL:ENSP00000445868","ENSEMBL:ENSP00000445868.1"],"information_content":100.0}
{"id":"UniProtKB:Q4VC12-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"putative protein MSS51 homolog, mitochondrial isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q4VC12-1","PR:Q4VC12-1","ENSEMBL:ENSP00000299432","ENSEMBL:ENSP00000299432.2","ENSEMBL:ENSP00000362003","ENSEMBL:ENSP00000362003.1"],"information_content":100.0}
{"id":"UniProtKB:Q4VC44-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FLYWCH-type zinc finger-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q4VC44-1","PR:Q4VC44-1","ENSEMBL:ENSP00000253928","ENSEMBL:ENSP00000253928.9"],"information_content":100.0}
{"id":"UniProtKB:Q4VCS5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"angiomotin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q4VCS5-1","PR:Q4VCS5-1","ENSEMBL:ENSP00000361027","ENSEMBL:ENSP00000361027.3"],"information_content":100.0}
{"id":"UniProtKB:Q4VNC1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"probable cation-transporting ATPase 13A4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q4VNC1-1","PR:Q4VNC1-1","ENSEMBL:ENSP00000339182","ENSEMBL:ENSP00000339182.4"],"information_content":100.0}
{"id":"UniProtKB:Q4VX76-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"synaptotagmin-like protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q4VX76-1","PR:Q4VX76-1","ENSEMBL:ENSP00000353631","ENSEMBL:ENSP00000353631.4","ENSEMBL:ENSP00000483936","ENSEMBL:ENSP00000483936.1"],"information_content":100.0}
{"id":"UniProtKB:Q4VXA5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"KH homology domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q4VXA5-1","PR:Q4VXA5-1","ENSEMBL:ENSP00000359411","ENSEMBL:ENSP00000359411.3"],"information_content":100.0}
{"id":"UniProtKB:Q4VXU2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"polyadenylate-binding protein 1-like isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q4VXU2-1","PR:Q4VXU2-1","ENSEMBL:ENSP00000255136","ENSEMBL:ENSP00000255136.3"],"information_content":100.0}
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{"id":"UniProtKB:Q4ZHG4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"fibronectin type III domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q4ZHG4-1","PR:Q4ZHG4-1","ENSEMBL:ENSP00000297267","ENSEMBL:ENSP00000297267.9"],"information_content":100.0}
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{"id":"UniProtKB:Q504Y0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc transporter ZIP12 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q504Y0-1","PR:Q504Y0-1","ENSEMBL:ENSP00000366586","ENSEMBL:ENSP00000366586.2"],"information_content":100.0}
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{"id":"UniProtKB:Q53EV4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine-rich repeat-containing protein 23 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q53EV4-1","PR:Q53EV4-1","ENSEMBL:ENSP00000007969","ENSEMBL:ENSP00000007969.8","ENSEMBL:ENSP00000390932","ENSEMBL:ENSP00000390932.2"],"information_content":100.0}
{"id":"UniProtKB:Q53EZ4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centrosomal protein of 55 kDa isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q53EZ4-1","PR:Q53EZ4-1","ENSEMBL:ENSP00000360540","ENSEMBL:ENSP00000360540.3"],"information_content":100.0}
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{"id":"UniProtKB:Q53G59-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kelch-like protein 12 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q53G59-1","PR:Q53G59-1","ENSEMBL:ENSP00000356230","ENSEMBL:ENSP00000356230.3"],"information_content":100.0}
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{"id":"UniProtKB:Q53GS7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mRNA export factor GLE1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q53GS7-1","PR:Q53GS7-1","ENSEMBL:ENSP00000308622","ENSEMBL:ENSP00000308622.5"],"information_content":100.0}
{"id":"UniProtKB:Q53GS9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin carboxyl-terminal hydrolase 39 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q53GS9-1","PR:Q53GS9-1","ENSEMBL:ENSP00000312981","ENSEMBL:ENSP00000312981.6","ENSEMBL:ENSP00000386864","ENSEMBL:ENSP00000386864.1"],"information_content":100.0}
{"id":"UniProtKB:Q53GT1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kelch-like protein 22 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q53GT1-1","PR:Q53GT1-1","ENSEMBL:ENSP00000331682","ENSEMBL:ENSP00000331682.4"],"information_content":100.0}
{"id":"UniProtKB:Q53H12-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"acylglycerol kinase, mitochondrial isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q53H12-1","PR:Q53H12-1","ENSEMBL:ENSP00000496789","ENSEMBL:ENSP00000496789.1","ENSEMBL:ENSP00000497280","ENSEMBL:ENSP00000497280.1","ENSEMBL:ENSP00000498112","ENSEMBL:ENSP00000498112.1"],"information_content":100.0}
{"id":"UniProtKB:Q53H47-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"histone-lysine N-methyltransferase SETMAR isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q53H47-1","PR:Q53H47-1","ENSEMBL:ENSP00000373354","ENSEMBL:ENSP00000373354.3"],"information_content":100.0}
{"id":"UniProtKB:Q53H76-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phospholipase A1 member A isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q53H76-1","PR:Q53H76-1","ENSEMBL:ENSP00000273371","ENSEMBL:ENSP00000273371.4"],"information_content":100.0}
{"id":"UniProtKB:Q53HC0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coiled-coil domain-containing protein 92 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q53HC0-1","PR:Q53HC0-1","ENSEMBL:ENSP00000238156","ENSEMBL:ENSP00000238156.3","ENSEMBL:ENSP00000488830","ENSEMBL:ENSP00000488830.1"],"information_content":100.0}
{"id":"UniProtKB:Q53HV7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"single-strand selective monofunctional uracil DNA glycosylase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q53HV7-1","PR:Q53HV7-1","ENSEMBL:ENSP00000338606","ENSEMBL:ENSP00000338606.3","ENSEMBL:ENSP00000384828","ENSEMBL:ENSP00000384828.2","ENSEMBL:ENSP00000424191","ENSEMBL:ENSP00000424191.1","ENSEMBL:ENSP00000507590","ENSEMBL:ENSP00000507590.1"],"information_content":100.0}
{"id":"UniProtKB:Q53R41-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FAST kinase domain-containing protein 1, mitochondrial isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q53R41-1","PR:Q53R41-1","ENSEMBL:ENSP00000400513","ENSEMBL:ENSP00000400513.2"],"information_content":100.0}
{"id":"UniProtKB:Q53RD9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"fibulin-7 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q53RD9-1","PR:Q53RD9-1","ENSEMBL:ENSP00000331411","ENSEMBL:ENSP00000331411.2"],"information_content":100.0}
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{"id":"UniProtKB:Q53T94-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"TATA box-binding protein-associated factor RNA polymerase I subunit B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q53T94-1","PR:Q53T94-1","ENSEMBL:ENSP00000263663","ENSEMBL:ENSP00000263663.4"],"information_content":100.0}
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{"id":"UniProtKB:Q5DID0-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"uromodulin-like 1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5DID0-2","PR:Q5DID0-2","ENSEMBL:ENSP00000386126","ENSEMBL:ENSP00000386126.2"],"information_content":100.0}
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{"id":"UniProtKB:Q5DX21-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"immunoglobulin superfamily member 11 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5DX21-1","PR:Q5DX21-1","ENSEMBL:ENSP00000377370","ENSEMBL:ENSP00000377370.2"],"information_content":100.0}
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{"id":"UniProtKB:Q5EBL4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RILP-like protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5EBL4-1","PR:Q5EBL4-1","ENSEMBL:ENSP00000366070","ENSEMBL:ENSP00000366070.4"],"information_content":100.0}
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{"id":"UniProtKB:Q5EBM0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"UMP-CMP kinase 2, mitochondrial isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5EBM0-1","PR:Q5EBM0-1","ENSEMBL:ENSP00000256722","ENSEMBL:ENSP00000256722.5"],"information_content":100.0}
{"id":"UniProtKB:Q5EE01-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centromere protein W isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5EE01-2","PR:Q5EE01-2","ENSEMBL:ENSP00000357308","ENSEMBL:ENSP00000357308.1"],"information_content":100.0}
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{"id":"UniProtKB:Q5GFL6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"von Willebrand factor A domain-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5GFL6-1","PR:Q5GFL6-1","ENSEMBL:ENSP00000376708","ENSEMBL:ENSP00000376708.3"],"information_content":100.0}
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{"id":"UniProtKB:Q5JQC4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"CT47A_HUMAN Cancer/testis antigen 47A (sprot)","equivalent_identifiers":["UniProtKB:Q5JQC4","PR:Q5JQC4","ENSEMBL:ENSP00000389513","ENSEMBL:ENSP00000389513.2","ENSEMBL:ENSP00000390070","ENSEMBL:ENSP00000390070.2","ENSEMBL:ENSP00000391318","ENSEMBL:ENSP00000391318.2","ENSEMBL:ENSP00000392283","ENSEMBL:ENSP00000392283.2","ENSEMBL:ENSP00000393315","ENSEMBL:ENSP00000393315.1","ENSEMBL:ENSP00000398559","ENSEMBL:ENSP00000398559.2","ENSEMBL:ENSP00000399711","ENSEMBL:ENSP00000399711.2","ENSEMBL:ENSP00000400046","ENSEMBL:ENSP00000400046.2","ENSEMBL:ENSP00000408204","ENSEMBL:ENSP00000408204.2","ENSEMBL:ENSP00000410400","ENSEMBL:ENSP00000410400.2","ENSEMBL:ENSP00000411909","ENSEMBL:ENSP00000411909.2","ENSEMBL:ENSP00000414253","ENSEMBL:ENSP00000414253.2","ENSEMBL:ENSP00000500004","ENSEMBL:ENSP00000500004.1","ENSEMBL:ENSP00000500057","ENSEMBL:ENSP00000500057.1","ENSEMBL:ENSP00000500110","ENSEMBL:ENSP00000500110.1","ENSEMBL:ENSP00000518276","ENSEMBL:ENSP00000518276.1","ENSEMBL:ENSP00000518277","ENSEMBL:ENSP00000518277.1"],"information_content":100.0}
{"id":"UniProtKB:Q5JQC9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A-kinase anchor protein 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5JQC9-1","PR:Q5JQC9-1","ENSEMBL:ENSP00000351327","ENSEMBL:ENSP00000351327.2"],"information_content":100.0}
{"id":"UniProtKB:Q5JQF8","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"PAP1M_HUMAN Polyadenylate-binding protein 1-like 2 (sprot)","equivalent_identifiers":["UniProtKB:Q5JQF8","PR:Q5JQF8","ENSEMBL:ENSP00000362618","ENSEMBL:ENSP00000362618.1","ENSEMBL:ENSP00000362621","ENSEMBL:ENSP00000362621.3"],"information_content":100.0}
{"id":"UniProtKB:Q5JRA6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transport and Golgi organization protein 1 homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5JRA6-1","PR:Q5JRA6-1","ENSEMBL:ENSP00000340900","ENSEMBL:ENSP00000340900.5"],"information_content":100.0}
{"id":"UniProtKB:Q5JRV8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 255A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5JRV8-1","PR:Q5JRV8-1","ENSEMBL:ENSP00000310110","ENSEMBL:ENSP00000310110.5"],"information_content":100.0}
{"id":"UniProtKB:Q5JRX3-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"presequence protease, mitochondrial isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5JRX3-2","PR:Q5JRX3-2","ENSEMBL:ENSP00000370377","ENSEMBL:ENSP00000370377.2"],"information_content":100.0}
{"id":"UniProtKB:Q5JS13-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ras-specific guanine nucleotide-releasing factor RalGPS1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5JS13-1","PR:Q5JS13-1","ENSEMBL:ENSP00000259351","ENSEMBL:ENSP00000259351.5"],"information_content":100.0}
{"id":"UniProtKB:Q5JS54-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"proteasome assembly chaperone 4 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5JS54-2","PR:Q5JS54-2","ENSEMBL:ENSP00000392353","ENSEMBL:ENSP00000392353.2"],"information_content":100.0}
{"id":"UniProtKB:Q5JSP0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FYVE, RhoGEF and PH domain-containing protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5JSP0-1","PR:Q5JSP0-1","ENSEMBL:ENSP00000336914","ENSEMBL:ENSP00000336914.6","ENSEMBL:ENSP00000364631","ENSEMBL:ENSP00000364631.3","ENSEMBL:ENSP00000496819","ENSEMBL:ENSP00000496819.1"],"information_content":100.0}
{"id":"UniProtKB:Q5JST6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"EF-hand domain-containing family member C2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5JST6-1","PR:Q5JST6-1","ENSEMBL:ENSP00000404232","ENSEMBL:ENSP00000404232.2"],"information_content":100.0}
{"id":"UniProtKB:Q5JT25-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ras-related protein Rab-41 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5JT25-1","PR:Q5JT25-1","ENSEMBL:ENSP00000363597","ENSEMBL:ENSP00000363597.2"],"information_content":100.0}
{"id":"UniProtKB:Q5JTC6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"APC membrane recruitment protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5JTC6-1","PR:Q5JTC6-1","ENSEMBL:ENSP00000364003","ENSEMBL:ENSP00000364003.4"],"information_content":100.0}
{"id":"UniProtKB:Q5JTD0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tight junction-associated protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5JTD0-1","PR:Q5JTD0-1","ENSEMBL:ENSP00000361522","ENSEMBL:ENSP00000361522.5","ENSEMBL:ENSP00000361527","ENSEMBL:ENSP00000361527.1","ENSEMBL:ENSP00000408769","ENSEMBL:ENSP00000408769.2"],"information_content":100.0}
{"id":"UniProtKB:Q5JTH9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RRP12-like protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5JTH9-1","PR:Q5JTH9-1","ENSEMBL:ENSP00000360031","ENSEMBL:ENSP00000360031.4","ENSEMBL:ENSP00000446184","ENSEMBL:ENSP00000446184.2"],"information_content":100.0}
{"id":"UniProtKB:Q5JTJ3-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytochrome c oxidase assembly factor 6 homolog isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5JTJ3-2","PR:Q5JTJ3-2","ENSEMBL:ENSP00000355574","ENSEMBL:ENSP00000355574.5"],"information_content":100.0}
{"id":"UniProtKB:Q5JTV8-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"torsin-1A-interacting protein 1 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q5JTV8-3","PR:Q5JTV8-3","ENSEMBL:ENSP00000435365","ENSEMBL:ENSP00000435365.2"],"information_content":100.0}
{"id":"UniProtKB:Q5JTW2-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centrosomal protein of 78 kDa isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5JTW2-2","PR:Q5JTW2-2","ENSEMBL:ENSP00000365782","ENSEMBL:ENSP00000365782.4"],"information_content":100.0}
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{"id":"UniProtKB:Q5JUX0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"spindlin-3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5JUX0-1","PR:Q5JUX0-1","ENSEMBL:ENSP00000364054","ENSEMBL:ENSP00000364054.3","ENSEMBL:ENSP00000491179","ENSEMBL:ENSP00000491179.1","ENSEMBL:ENSP00000491624","ENSEMBL:ENSP00000491624.1","ENSEMBL:ENSP00000491751","ENSEMBL:ENSP00000491751.1","ENSEMBL:ENSP00000492344","ENSEMBL:ENSP00000492344.1","ENSEMBL:ENSP00000492381","ENSEMBL:ENSP00000492381.1","ENSEMBL:ENSP00000492795","ENSEMBL:ENSP00000492795.1"],"information_content":100.0}
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{"id":"UniProtKB:Q5JWF2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"guanine nucleotide-binding protein G(s) subunit alpha isoform XLas-1 (human)","equivalent_identifiers":["UniProtKB:Q5JWF2-1","PR:Q5JWF2-1","ENSEMBL:ENSP00000360141","ENSEMBL:ENSP00000360141.3"],"information_content":100.0}
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{"id":"UniProtKB:Q5M7Z0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase RNFT1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5M7Z0-1","PR:Q5M7Z0-1","ENSEMBL:ENSP00000304670","ENSEMBL:ENSP00000304670.8"],"information_content":100.0}
{"id":"UniProtKB:Q5MAI5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cyclin-dependent kinase-like 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5MAI5-1","PR:Q5MAI5-1","ENSEMBL:ENSP00000378476","ENSEMBL:ENSP00000378476.3"],"information_content":100.0}
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{"id":"UniProtKB:Q5MJ70-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"speedy protein A isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5MJ70-2","PR:Q5MJ70-2","ENSEMBL:ENSP00000335628","ENSEMBL:ENSP00000335628.5","ENSEMBL:ENSP00000368898","ENSEMBL:ENSP00000368898.4"],"information_content":100.0}
{"id":"UniProtKB:Q5MNZ9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"WD repeat domain phosphoinositide-interacting protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5MNZ9-1","PR:Q5MNZ9-1","ENSEMBL:ENSP00000262139","ENSEMBL:ENSP00000262139.4"],"information_content":100.0}
{"id":"UniProtKB:Q5MY95-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ectonucleoside triphosphate diphosphohydrolase 8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5MY95-1","PR:Q5MY95-1","ENSEMBL:ENSP00000360561","ENSEMBL:ENSP00000360561.2"],"information_content":100.0}
{"id":"UniProtKB:Q5NDL2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"EGF domain-specific O-linked N-acetylglucosamine transferase isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5NDL2-1","PR:Q5NDL2-1","ENSEMBL:ENSP00000373206","ENSEMBL:ENSP00000373206.3","ENSEMBL:ENSP00000443780","ENSEMBL:ENSP00000443780.2"],"information_content":100.0}
{"id":"UniProtKB:Q5NUL3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"free fatty acid receptor 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5NUL3-1","PR:Q5NUL3-1","ENSEMBL:ENSP00000360538","ENSEMBL:ENSP00000360538.4"],"information_content":100.0}
{"id":"UniProtKB:Q5PSV4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"breast cancer metastasis-suppressor 1-like protein isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5PSV4-1","PR:Q5PSV4-1","ENSEMBL:ENSP00000216807","ENSEMBL:ENSP00000216807.6"],"information_content":100.0}
{"id":"UniProtKB:Q5QGZ9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"C-type lectin domain family 12 member A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5QGZ9-1","PR:Q5QGZ9-1","ENSEMBL:ENSP00000347916","ENSEMBL:ENSP00000347916.4"],"information_content":100.0}
{"id":"UniProtKB:Q5QJU3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"alkaline ceramidase 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5QJU3-1","PR:Q5QJU3-1","ENSEMBL:ENSP00000342609","ENSEMBL:ENSP00000342609.2"],"information_content":100.0}
{"id":"UniProtKB:Q5QNW6-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"histone H2B type 2-F isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5QNW6-2","PR:Q5QNW6-2","ENSEMBL:ENSP00000445831","ENSEMBL:ENSP00000445831.1"],"information_content":100.0}
{"id":"UniProtKB:Q5R3K3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"calcium homeostasis modulator protein 6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5R3K3-1","PR:Q5R3K3-1","ENSEMBL:ENSP00000357594","ENSEMBL:ENSP00000357594.1"],"information_content":100.0}
{"id":"UniProtKB:Q5RHP9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glutamate-rich protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5RHP9-1","PR:Q5RHP9-1","ENSEMBL:ENSP00000322609","ENSEMBL:ENSP00000322609.5"],"information_content":100.0}
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{"id":"UniProtKB:Q5SNT2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 201 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5SNT2-1","PR:Q5SNT2-1","ENSEMBL:ENSP00000344503","ENSEMBL:ENSP00000344503.6"],"information_content":100.0}
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{"id":"UniProtKB:Q5SQH8-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"uncharacterized protein C6orf136 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q5SQH8-4","PR:Q5SQH8-4","ENSEMBL:ENSP00000293604","ENSEMBL:ENSP00000293604.6","ENSEMBL:ENSP00000499201","ENSEMBL:ENSP00000499201.1"],"information_content":100.0}
{"id":"UniProtKB:Q5SQI0-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"alpha-tubulin N-acetyltransferase 1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5SQI0-2","PR:Q5SQI0-2","ENSEMBL:ENSP00000327832","ENSEMBL:ENSP00000327832.5","ENSEMBL:ENSP00000373076","ENSEMBL:ENSP00000373076.4","ENSEMBL:ENSP00000389129","ENSEMBL:ENSP00000389129.2","ENSEMBL:ENSP00000391244","ENSEMBL:ENSP00000391244.2","ENSEMBL:ENSP00000398374","ENSEMBL:ENSP00000398374.2","ENSEMBL:ENSP00000412993","ENSEMBL:ENSP00000412993.2","ENSEMBL:ENSP00000416925","ENSEMBL:ENSP00000416925.2"],"information_content":100.0}
{"id":"UniProtKB:Q5SQQ9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ventral anterior homeobox 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5SQQ9-1","PR:Q5SQQ9-1","ENSEMBL:ENSP00000358207","ENSEMBL:ENSP00000358207.4"],"information_content":100.0}
{"id":"UniProtKB:Q5SQS7-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SH2 domain-containing protein 4B isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5SQS7-2","PR:Q5SQS7-2","ENSEMBL:ENSP00000345295","ENSEMBL:ENSP00000345295.2"],"information_content":100.0}
{"id":"UniProtKB:Q5SRE5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nucleoporin NUP188 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5SRE5-1","PR:Q5SRE5-1","ENSEMBL:ENSP00000361658","ENSEMBL:ENSP00000361658.2"],"information_content":100.0}
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{"id":"UniProtKB:Q5SSG8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mucin-21 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5SSG8-1","PR:Q5SSG8-1","ENSEMBL:ENSP00000365473","ENSEMBL:ENSP00000365473.3"],"information_content":100.0}
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{"id":"UniProtKB:Q5SSQ6-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"suppressor APC domain-containing protein 1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5SSQ6-2","PR:Q5SSQ6-2","ENSEMBL:ENSP00000387942","ENSEMBL:ENSP00000387942.2","ENSEMBL:ENSP00000403346","ENSEMBL:ENSP00000403346.2","ENSEMBL:ENSP00000403687","ENSEMBL:ENSP00000403687.2","ENSEMBL:ENSP00000404105","ENSEMBL:ENSP00000404105.2","ENSEMBL:ENSP00000405513","ENSEMBL:ENSP00000405513.2","ENSEMBL:ENSP00000411948","ENSEMBL:ENSP00000411948.2"],"information_content":100.0}
{"id":"UniProtKB:Q5ST30-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"valine--tRNA ligase, mitochondrial isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5ST30-1","PR:Q5ST30-1","ENSEMBL:ENSP00000316092","ENSEMBL:ENSP00000316092.5","ENSEMBL:ENSP00000400867","ENSEMBL:ENSP00000400867.2","ENSEMBL:ENSP00000441000","ENSEMBL:ENSP00000441000.2","ENSEMBL:ENSP00000502585","ENSEMBL:ENSP00000502585.1"],"information_content":100.0}
{"id":"UniProtKB:Q5SW24-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dapper homolog 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5SW24-1","PR:Q5SW24-1","ENSEMBL:ENSP00000355760","ENSEMBL:ENSP00000355760.3"],"information_content":100.0}
{"id":"UniProtKB:Q5SW79-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centrosomal protein of 170 kDa isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5SW79-1","PR:Q5SW79-1","ENSEMBL:ENSP00000355500","ENSEMBL:ENSP00000355500.1","ENSEMBL:ENSP00000483344","ENSEMBL:ENSP00000483344.1"],"information_content":100.0}
{"id":"UniProtKB:Q5SWX8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein odr-4 homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5SWX8-1","PR:Q5SWX8-1","ENSEMBL:ENSP00000287859","ENSEMBL:ENSP00000287859.6"],"information_content":100.0}
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{"id":"UniProtKB:Q5SY80-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cation channel sperm-associated auxiliary subunit epsilon isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5SY80-1","PR:Q5SY80-1","ENSEMBL:ENSP00000355492","ENSEMBL:ENSP00000355492.4"],"information_content":100.0}
{"id":"UniProtKB:Q5SYB0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FERM and PDZ domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5SYB0-1","PR:Q5SYB0-1","ENSEMBL:ENSP00000366995","ENSEMBL:ENSP00000366995.3","ENSEMBL:ENSP00000444411","ENSEMBL:ENSP00000444411.1"],"information_content":100.0}
{"id":"UniProtKB:Q5SYE7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NHS-like protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5SYE7-1","PR:Q5SYE7-1","ENSEMBL:ENSP00000394546","ENSEMBL:ENSP00000394546.2"],"information_content":100.0}
{"id":"UniProtKB:Q5SZJ8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"BEN domain-containing protein 6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5SZJ8-1","PR:Q5SZJ8-1","ENSEMBL:ENSP00000359782","ENSEMBL:ENSP00000359782.3"],"information_content":100.0}
{"id":"UniProtKB:Q5SZK8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FRAS1-related extracellular matrix protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5SZK8-1","PR:Q5SZK8-1","ENSEMBL:ENSP00000280481","ENSEMBL:ENSP00000280481.7"],"information_content":100.0}
{"id":"UniProtKB:Q5SZL2-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centrosomal protein of 85 kDa-like isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q5SZL2-4","PR:Q5SZL2-4","ENSEMBL:ENSP00000357474","ENSEMBL:ENSP00000357474.5"],"information_content":100.0}
{"id":"UniProtKB:Q5SZQ8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"CUGBP Elav-like family member 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5SZQ8-1","PR:Q5SZQ8-1","ENSEMBL:ENSP00000290583","ENSEMBL:ENSP00000290583.4"],"information_content":100.0}
{"id":"UniProtKB:Q5T011-5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"KICSTOR complex protein SZT2 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q5T011-5","PR:Q5T011-5","ENSEMBL:ENSP00000457168","ENSEMBL:ENSP00000457168.1"],"information_content":100.0}
{"id":"UniProtKB:Q5T089-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"MORN repeat-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T089-1","PR:Q5T089-1","ENSEMBL:ENSP00000367792","ENSEMBL:ENSP00000367792.3"],"information_content":100.0}
{"id":"UniProtKB:Q5T0F9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coiled-coil and C2 domain-containing protein 1B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T0F9-1","PR:Q5T0F9-1","ENSEMBL:ENSP00000360642","ENSEMBL:ENSP00000360642.2"],"information_content":100.0}
{"id":"UniProtKB:Q5T0N5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"formin-binding protein 1-like isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5T0N5-1","PR:Q5T0N5-1","ENSEMBL:ENSP00000271234","ENSEMBL:ENSP00000271234.7"],"information_content":100.0}
{"id":"UniProtKB:Q5T0T0-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase MARCHF8 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5T0T0-2","PR:Q5T0T0-2","ENSEMBL:ENSP00000411848","ENSEMBL:ENSP00000411848.2"],"information_content":100.0}
{"id":"UniProtKB:Q5T0U0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coiled-coil domain-containing protein 122 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T0U0-1","PR:Q5T0U0-1","ENSEMBL:ENSP00000407763","ENSEMBL:ENSP00000407763.2"],"information_content":100.0}
{"id":"UniProtKB:Q5T0Z8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"uncharacterized protein C6orf132 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T0Z8-1","PR:Q5T0Z8-1","ENSEMBL:ENSP00000341368","ENSEMBL:ENSP00000341368.4"],"information_content":100.0}
{"id":"UniProtKB:Q5T124-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"UBX domain-containing protein 11 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T124-1","PR:Q5T124-1","ENSEMBL:ENSP00000363338","ENSEMBL:ENSP00000363338.3","ENSEMBL:ENSP00000363339","ENSEMBL:ENSP00000363339.1"],"information_content":100.0}
{"id":"UniProtKB:Q5T197-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase DCST1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T197-1","PR:Q5T197-1","ENSEMBL:ENSP00000295542","ENSEMBL:ENSP00000295542.2"],"information_content":100.0}
{"id":"UniProtKB:Q5T1A1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DC-STAMP domain-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T1A1-1","PR:Q5T1A1-1","ENSEMBL:ENSP00000357409","ENSEMBL:ENSP00000357409.3"],"information_content":100.0}
{"id":"UniProtKB:Q5T1B0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"axonemal dynein light chain domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T1B0-1","PR:Q5T1B0-1","ENSEMBL:ENSP00000356590","ENSEMBL:ENSP00000356590.3"],"information_content":100.0}
{"id":"UniProtKB:Q5T1H1-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein eyes shut homolog isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q5T1H1-3","PR:Q5T1H1-3","ENSEMBL:ENSP00000359655","ENSEMBL:ENSP00000359655.3"],"information_content":100.0}
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{"id":"UniProtKB:Q5T1R4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transcription factor HIVEP3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T1R4-1","PR:Q5T1R4-1","ENSEMBL:ENSP00000361664","ENSEMBL:ENSP00000361664.1"],"information_content":100.0}
{"id":"UniProtKB:Q5T1V6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"probable ATP-dependent RNA helicase DDX59 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5T1V6-1","PR:Q5T1V6-1","ENSEMBL:ENSP00000330460","ENSEMBL:ENSP00000330460.6"],"information_content":100.0}
{"id":"UniProtKB:Q5T200-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger CCCH domain-containing protein 13 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T200-1","PR:Q5T200-1","ENSEMBL:ENSP00000242848","ENSEMBL:ENSP00000242848.4"],"information_content":100.0}
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{"id":"UniProtKB:Q5T2R2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"all trans-polyprenyl-diphosphate synthase PDSS1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T2R2-1","PR:Q5T2R2-1","ENSEMBL:ENSP00000365388","ENSEMBL:ENSP00000365388.5"],"information_content":100.0}
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{"id":"UniProtKB:Q5T3F8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"CSC1-like protein 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5T3F8-1","PR:Q5T3F8-1","ENSEMBL:ENSP00000259746","ENSEMBL:ENSP00000259746.9","ENSEMBL:ENSP00000327154","ENSEMBL:ENSP00000327154.6"],"information_content":100.0}
{"id":"UniProtKB:Q5T3J3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ligand-dependent nuclear receptor-interacting factor 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T3J3-1","PR:Q5T3J3-1","ENSEMBL:ENSP00000358778","ENSEMBL:ENSP00000358778.4"],"information_content":100.0}
{"id":"UniProtKB:Q5T3U5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATP-binding cassette sub-family C member 10 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T3U5-1","PR:Q5T3U5-1","ENSEMBL:ENSP00000361608","ENSEMBL:ENSP00000361608.4"],"information_content":100.0}
{"id":"UniProtKB:Q5T4D3-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein O-mannosyl-transferase TMTC4 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q5T4D3-3","PR:Q5T4D3-3","ENSEMBL:ENSP00000343871","ENSEMBL:ENSP00000343871.5"],"information_content":100.0}
{"id":"UniProtKB:Q5T4F4-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protrudin isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q5T4F4-3","PR:Q5T4F4-3","ENSEMBL:ENSP00000409594","ENSEMBL:ENSP00000409594.2"],"information_content":100.0}
{"id":"UniProtKB:Q5T4I8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"putative uncharacterized protein C6orf52 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T4I8-1","PR:Q5T4I8-1","ENSEMBL:ENSP00000259983","ENSEMBL:ENSP00000259983.3","ENSEMBL:ENSP00000410749","ENSEMBL:ENSP00000410749.2","ENSEMBL:ENSP00000494707","ENSEMBL:ENSP00000494707.1","ENSEMBL:ENSP00000495171","ENSEMBL:ENSP00000495171.1"],"information_content":100.0}
{"id":"UniProtKB:Q5T4S7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase UBR4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T4S7-1","PR:Q5T4S7-1","ENSEMBL:ENSP00000364403","ENSEMBL:ENSP00000364403.3"],"information_content":100.0}
{"id":"UniProtKB:Q5T4T6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"synaptonemal complex protein 2-like isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T4T6-1","PR:Q5T4T6-1","ENSEMBL:ENSP00000283141","ENSEMBL:ENSP00000283141.6"],"information_content":100.0}
{"id":"UniProtKB:Q5T4W7-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"artemin isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q5T4W7-3","PR:Q5T4W7-3","ENSEMBL:ENSP00000387435","ENSEMBL:ENSP00000387435.3","ENSEMBL:ENSP00000436727","ENSEMBL:ENSP00000436727.1"],"information_content":100.0}
{"id":"UniProtKB:Q5T5A4-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cilia- and flagella-associated protein 276 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5T5A4-2","PR:Q5T5A4-2","ENSEMBL:ENSP00000358965","ENSEMBL:ENSP00000358965.4"],"information_content":100.0}
{"id":"UniProtKB:Q5T5C0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"syntaxin-binding protein 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T5C0-1","PR:Q5T5C0-1","ENSEMBL:ENSP00000321826","ENSEMBL:ENSP00000321826.6"],"information_content":100.0}
{"id":"UniProtKB:Q5T5M9-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cyclin-J isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q5T5M9-3","PR:Q5T5M9-3","ENSEMBL:ENSP00000435373","ENSEMBL:ENSP00000435373.2"],"information_content":100.0}
{"id":"UniProtKB:Q5T5P2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sickle tail protein homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T5P2-1","PR:Q5T5P2-1","ENSEMBL:ENSP00000365637","ENSEMBL:ENSP00000365637.3"],"information_content":100.0}
{"id":"UniProtKB:Q5T5S1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coiled-coil domain-containing protein 183 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T5S1-1","PR:Q5T5S1-1","ENSEMBL:ENSP00000338013","ENSEMBL:ENSP00000338013.6"],"information_content":100.0}
{"id":"UniProtKB:Q5T5U3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Rho GTPase-activating protein 21 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T5U3-1","PR:Q5T5U3-1","ENSEMBL:ENSP00000379709","ENSEMBL:ENSP00000379709.2"],"information_content":100.0}
{"id":"UniProtKB:Q5T5Y3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"calmodulin-regulated spectrin-associated protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T5Y3-1","PR:Q5T5Y3-1","ENSEMBL:ENSP00000374183","ENSEMBL:ENSP00000374183.4"],"information_content":100.0}
{"id":"UniProtKB:Q5T601-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"adhesion G-protein coupled receptor F1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T601-1","PR:Q5T601-1","ENSEMBL:ENSP00000360299","ENSEMBL:ENSP00000360299.2"],"information_content":100.0}
{"id":"UniProtKB:Q5T6J7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"probable gluconokinase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T6J7-1","PR:Q5T6J7-1","ENSEMBL:ENSP00000365601","ENSEMBL:ENSP00000365601.4"],"information_content":100.0}
{"id":"UniProtKB:Q5T6L9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"endoplasmic reticulum membrane-associated RNA degradation protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T6L9-1","PR:Q5T6L9-1","ENSEMBL:ENSP00000355735","ENSEMBL:ENSP00000355735.3","ENSEMBL:ENSP00000483960","ENSEMBL:ENSP00000483960.2"],"information_content":100.0}
{"id":"UniProtKB:Q5T6X5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"G-protein coupled receptor family C group 6 member A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T6X5-1","PR:Q5T6X5-1","ENSEMBL:ENSP00000309493","ENSEMBL:ENSP00000309493.4"],"information_content":100.0}
{"id":"UniProtKB:Q5T7B8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kinesin-like protein KIF24 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T7B8-1","PR:Q5T7B8-1","ENSEMBL:ENSP00000384433","ENSEMBL:ENSP00000384433.1"],"information_content":100.0}
{"id":"UniProtKB:Q5T7N3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"KN motif and ankyrin repeat domain-containing protein 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T7N3-1","PR:Q5T7N3-1","ENSEMBL:ENSP00000360195","ENSEMBL:ENSP00000360195.4"],"information_content":100.0}
{"id":"UniProtKB:Q5T7P8-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"synaptotagmin-6 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5T7P8-2","PR:Q5T7P8-2","ENSEMBL:ENSP00000476507","ENSEMBL:ENSP00000476507.1","ENSEMBL:ENSP00000477344","ENSEMBL:ENSP00000477344.1"],"information_content":100.0}
{"id":"UniProtKB:Q5T7V8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RAB6-interacting golgin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T7V8-1","PR:Q5T7V8-1","ENSEMBL:ENSP00000356737","ENSEMBL:ENSP00000356737.4"],"information_content":100.0}
{"id":"UniProtKB:Q5T7W0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 618 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T7W0-1","PR:Q5T7W0-1","ENSEMBL:ENSP00000363241","ENSEMBL:ENSP00000363241.5"],"information_content":100.0}
{"id":"UniProtKB:Q5T7W7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T7W7-1","PR:Q5T7W7-1","ENSEMBL:ENSP00000342499","ENSEMBL:ENSP00000342499.4"],"information_content":100.0}
{"id":"UniProtKB:Q5T8D3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"acyl-CoA-binding domain-containing protein 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T8D3-1","PR:Q5T8D3-1","ENSEMBL:ENSP00000365049","ENSEMBL:ENSP00000365049.1"],"information_content":100.0}
{"id":"UniProtKB:Q5T9A4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATPase family AAA domain-containing protein 3B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T9A4-1","PR:Q5T9A4-1","ENSEMBL:ENSP00000500094","ENSEMBL:ENSP00000500094.1"],"information_content":100.0}
{"id":"UniProtKB:Q5T9C2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"early estrogen-induced gene 1 protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T9C2-1","PR:Q5T9C2-1","ENSEMBL:ENSP00000362187","ENSEMBL:ENSP00000362187.1"],"information_content":100.0}
{"id":"UniProtKB:Q5T9C9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phosphatidylinositol 4-phosphate 5-kinase-like protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5T9C9-1","PR:Q5T9C9-1","ENSEMBL:ENSP00000373399","ENSEMBL:ENSP00000373399.4"],"information_content":100.0}
{"id":"UniProtKB:Q5T9G4-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"armadillo repeat-containing protein 12 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5T9G4-2","PR:Q5T9G4-2","ENSEMBL:ENSP00000288065","ENSEMBL:ENSP00000288065.2"],"information_content":100.0}
{"id":"UniProtKB:Q5T9L3-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein wntless homolog isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5T9L3-2","PR:Q5T9L3-2","ENSEMBL:ENSP00000346829","ENSEMBL:ENSP00000346829.2"],"information_content":100.0}
{"id":"UniProtKB:Q5TAA0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tetratricopeptide repeat protein 22 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5TAA0-1","PR:Q5TAA0-1","ENSEMBL:ENSP00000360323","ENSEMBL:ENSP00000360323.4"],"information_content":100.0}
{"id":"UniProtKB:Q5TAB7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein ripply2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5TAB7-1","PR:Q5TAB7-1","ENSEMBL:ENSP00000358703","ENSEMBL:ENSP00000358703.1"],"information_content":100.0}
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{"id":"UniProtKB:Q5TAX3-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"terminal uridylyltransferase 4 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q5TAX3-3","PR:Q5TAX3-3","ENSEMBL:ENSP00000257177","ENSEMBL:ENSP00000257177.4"],"information_content":100.0}
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{"id":"UniProtKB:Q5TBB1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ribonuclease H2 subunit B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5TBB1-1","PR:Q5TBB1-1","ENSEMBL:ENSP00000337623","ENSEMBL:ENSP00000337623.2"],"information_content":100.0}
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{"id":"UniProtKB:Q5TEU4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"arginine-hydroxylase NDUFAF5, mitochondrial isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5TEU4-1","PR:Q5TEU4-1","ENSEMBL:ENSP00000367346","ENSEMBL:ENSP00000367346.5"],"information_content":100.0}
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{"id":"UniProtKB:Q5THJ4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"intermembrane lipid transfer protein VPS13D isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5THJ4-1","PR:Q5THJ4-1","ENSEMBL:ENSP00000478104","ENSEMBL:ENSP00000478104.1"],"information_content":100.0}
{"id":"UniProtKB:Q5THK1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein PRR14L isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5THK1-1","PR:Q5THK1-1","ENSEMBL:ENSP00000331845","ENSEMBL:ENSP00000331845.6"],"information_content":100.0}
{"id":"UniProtKB:Q5THR3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"EF-hand calcium-binding domain-containing protein 6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5THR3-1","PR:Q5THR3-1","ENSEMBL:ENSP00000262726","ENSEMBL:ENSP00000262726.7"],"information_content":100.0}
{"id":"UniProtKB:Q5TI25-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NBPF family member NBPF14 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5TI25-1","PR:Q5TI25-1","ENSEMBL:ENSP00000479693","ENSEMBL:ENSP00000479693.1"],"information_content":100.0}
{"id":"UniProtKB:Q5TIA1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"meiosis inhibitor protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5TIA1-1","PR:Q5TIA1-1","ENSEMBL:ENSP00000384115","ENSEMBL:ENSP00000384115.3"],"information_content":100.0}
{"id":"UniProtKB:Q5TID7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coiled-coil domain-containing protein 181 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5TID7-1","PR:Q5TID7-1","ENSEMBL:ENSP00000356780","ENSEMBL:ENSP00000356780.3"],"information_content":100.0}
{"id":"UniProtKB:Q5TIE3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"von Willebrand factor A domain-containing protein 5B1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5TIE3-1","PR:Q5TIE3-1","ENSEMBL:ENSP00000364220","ENSEMBL:ENSP00000364220.1"],"information_content":100.0}
{"id":"UniProtKB:Q5TKA1-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein lin-9 homolog isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5TKA1-2","PR:Q5TKA1-2","ENSEMBL:ENSP00000329102","ENSEMBL:ENSP00000329102.5"],"information_content":100.0}
{"id":"UniProtKB:Q5TYW1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 658 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5TYW1-1","PR:Q5TYW1-1","ENSEMBL:ENSP00000482447","ENSEMBL:ENSP00000482447.1","ENSEMBL:ENSP00000482540","ENSEMBL:ENSP00000482540.1"],"information_content":100.0}
{"id":"UniProtKB:Q5TZA2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"rootletin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5TZA2-1","PR:Q5TZA2-1","ENSEMBL:ENSP00000364691","ENSEMBL:ENSP00000364691.4"],"information_content":100.0}
{"id":"UniProtKB:Q5TZF3-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ankyrin repeat domain-containing protein 45 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5TZF3-2","PR:Q5TZF3-2","ENSEMBL:ENSP00000331268","ENSEMBL:ENSP00000331268.2"],"information_content":100.0}
{"id":"UniProtKB:Q5U3C3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 164 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5U3C3-1","PR:Q5U3C3-1","ENSEMBL:ENSP00000361138","ENSEMBL:ENSP00000361138.2","ENSEMBL:ENSP00000361143","ENSEMBL:ENSP00000361143.1","ENSEMBL:ENSP00000520920","ENSEMBL:ENSP00000520920.1"],"information_content":100.0}
{"id":"UniProtKB:Q5U5Z8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytosolic carboxypeptidase 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5U5Z8-1","PR:Q5U5Z8-1","ENSEMBL:ENSP00000435582","ENSEMBL:ENSP00000435582.1","ENSEMBL:ENSP00000494229","ENSEMBL:ENSP00000494229.1"],"information_content":100.0}
{"id":"UniProtKB:Q5U623-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"activating transcription factor 7-interacting protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5U623-1","PR:Q5U623-1","ENSEMBL:ENSP00000348799","ENSEMBL:ENSP00000348799.2","ENSEMBL:ENSP00000379808","ENSEMBL:ENSP00000379808.2","ENSEMBL:ENSP00000457731","ENSEMBL:ENSP00000457731.2"],"information_content":100.0}
{"id":"UniProtKB:Q5UCC4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ER membrane protein complex subunit 10 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5UCC4-1","PR:Q5UCC4-1","ENSEMBL:ENSP00000334037","ENSEMBL:ENSP00000334037.6"],"information_content":100.0}
{"id":"UniProtKB:Q5UIP0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"telomere-associated protein RIF1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5UIP0-1","PR:Q5UIP0-1","ENSEMBL:ENSP00000243326","ENSEMBL:ENSP00000243326.4","ENSEMBL:ENSP00000390181","ENSEMBL:ENSP00000390181.2"],"information_content":100.0}
{"id":"UniProtKB:Q5VIR6-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"vacuolar protein sorting-associated protein 53 homolog isoform 4 (human)","equivalent_identifiers":["UniProtKB:Q5VIR6-4","PR:Q5VIR6-4","ENSEMBL:ENSP00000401435","ENSEMBL:ENSP00000401435.2","ENSEMBL:ENSP00000492761","ENSEMBL:ENSP00000492761.1","ENSEMBL:ENSP00000505997","ENSEMBL:ENSP00000505997.1"],"information_content":100.0}
{"id":"UniProtKB:Q5VSL9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"striatin-interacting protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5VSL9-1","PR:Q5VSL9-1","ENSEMBL:ENSP00000358810","ENSEMBL:ENSP00000358810.3"],"information_content":100.0}
{"id":"UniProtKB:Q5VST6-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"alpha/beta hydrolase domain-containing protein 17B isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5VST6-2","PR:Q5VST6-2","ENSEMBL:ENSP00000366240","ENSEMBL:ENSP00000366240.2"],"information_content":100.0}
{"id":"UniProtKB:Q5VSY0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"G kinase-anchoring protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5VSY0-1","PR:Q5VSY0-1","ENSEMBL:ENSP00000365550","ENSEMBL:ENSP00000365550.2"],"information_content":100.0}
{"id":"UniProtKB:Q5VT25-5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine/threonine-protein kinase MRCK alpha isoform 5 (human)","equivalent_identifiers":["UniProtKB:Q5VT25-5","PR:Q5VT25-5","ENSEMBL:ENSP00000355731","ENSEMBL:ENSP00000355731.3"],"information_content":100.0}
{"id":"UniProtKB:Q5VT66-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitochondrial amidoxime-reducing component 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VT66-1","PR:Q5VT66-1","ENSEMBL:ENSP00000355877","ENSEMBL:ENSP00000355877.5"],"information_content":100.0}
{"id":"UniProtKB:Q5VT79-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"annexin A8-like protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VT79-1","PR:Q5VT79-1","ENSEMBL:ENSP00000480221","ENSEMBL:ENSP00000480221.1"],"information_content":100.0}
{"id":"UniProtKB:Q5VT97-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Rho GTPase-activating protein SYDE2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VT97-1","PR:Q5VT97-1","ENSEMBL:ENSP00000340594","ENSEMBL:ENSP00000340594.5"],"information_content":100.0}
{"id":"UniProtKB:Q5VTB9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase RNF220 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5VTB9-1","PR:Q5VTB9-1","ENSEMBL:ENSP00000347548","ENSEMBL:ENSP00000347548.2","ENSEMBL:ENSP00000354872","ENSEMBL:ENSP00000354872.2"],"information_content":100.0}
{"id":"UniProtKB:Q5VTD9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein Gfi-1b isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5VTD9-1","PR:Q5VTD9-1","ENSEMBL:ENSP00000344782","ENSEMBL:ENSP00000344782.3","ENSEMBL:ENSP00000361195","ENSEMBL:ENSP00000361195.1"],"information_content":100.0}
{"id":"UniProtKB:Q5VTE6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein angel homolog 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5VTE6-1","PR:Q5VTE6-1","ENSEMBL:ENSP00000355929","ENSEMBL:ENSP00000355929.3"],"information_content":100.0}
{"id":"UniProtKB:Q5VTH9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dynein axonemal intermediate chain 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VTH9-1","PR:Q5VTH9-1","ENSEMBL:ENSP00000360065","ENSEMBL:ENSP00000360065.3"],"information_content":100.0}
{"id":"UniProtKB:Q5VTM2-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5VTM2-2","PR:Q5VTM2-2","ENSEMBL:ENSP00000392206","ENSEMBL:ENSP00000392206.2"],"information_content":100.0}
{"id":"UniProtKB:Q5VTT2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cilia- and flagella-associated protein 95 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VTT2-1","PR:Q5VTT2-1","ENSEMBL:ENSP00000366402","ENSEMBL:ENSP00000366402.3"],"information_content":100.0}
{"id":"UniProtKB:Q5VTT5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"myomesin-3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VTT5-1","PR:Q5VTT5-1","ENSEMBL:ENSP00000363557","ENSEMBL:ENSP00000363557.3"],"information_content":100.0}
{"id":"UniProtKB:Q5VTY9-7","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein-cysteine N-palmitoyltransferase HHAT isoform h7 (human)","equivalent_identifiers":["UniProtKB:Q5VTY9-7","PR:Q5VTY9-7","ENSEMBL:ENSP00000438468","ENSEMBL:ENSP00000438468.1","ENSEMBL:ENSP00000486611","ENSEMBL:ENSP00000486611.1"],"information_content":100.0}
{"id":"UniProtKB:Q5VU43-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"myomegalin isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q5VU43-4","PR:Q5VU43-4","ENSEMBL:ENSP00000358363","ENSEMBL:ENSP00000358363.4"],"information_content":100.0}
{"id":"UniProtKB:Q5VU57-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytosolic carboxypeptidase 6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VU57-1","PR:Q5VU57-1","ENSEMBL:ENSP00000360905","ENSEMBL:ENSP00000360905.1"],"information_content":100.0}
{"id":"UniProtKB:Q5VU65-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nuclear pore membrane glycoprotein 210-like isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VU65-1","PR:Q5VU65-1","ENSEMBL:ENSP00000357547","ENSEMBL:ENSP00000357547.3"],"information_content":100.0}
{"id":"UniProtKB:Q5VUA4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 318 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VUA4-1","PR:Q5VUA4-1","ENSEMBL:ENSP00000354964","ENSEMBL:ENSP00000354964.2"],"information_content":100.0}
{"id":"UniProtKB:Q5VUJ6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine-rich repeat and calponin homology domain-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VUJ6-1","PR:Q5VUJ6-1","ENSEMBL:ENSP00000325091","ENSEMBL:ENSP00000325091.8"],"information_content":100.0}
{"id":"UniProtKB:Q5VV41-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Rho guanine nucleotide exchange factor 16 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VV41-1","PR:Q5VV41-1","ENSEMBL:ENSP00000367629","ENSEMBL:ENSP00000367629.4"],"information_content":100.0}
{"id":"UniProtKB:Q5VV42-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"threonylcarbamoyladenosine tRNA methylthiotransferase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VV42-1","PR:Q5VV42-1","ENSEMBL:ENSP00000274695","ENSEMBL:ENSP00000274695.4","ENSEMBL:ENSP00000367873","ENSEMBL:ENSP00000367873.1"],"information_content":100.0}
{"id":"UniProtKB:Q5VV43-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dyslexia-associated protein KIAA0319 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VV43-1","PR:Q5VV43-1","ENSEMBL:ENSP00000367459","ENSEMBL:ENSP00000367459.3"],"information_content":100.0}
{"id":"UniProtKB:Q5VV67-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"peroxisome proliferator-activated receptor gamma coactivator-related protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VV67-1","PR:Q5VV67-1","ENSEMBL:ENSP00000278070","ENSEMBL:ENSP00000278070.2"],"information_content":100.0}
{"id":"UniProtKB:Q5VVJ2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"deubiquitinase MYSM1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VVJ2-1","PR:Q5VVJ2-1","ENSEMBL:ENSP00000418734","ENSEMBL:ENSP00000418734.1"],"information_content":100.0}
{"id":"UniProtKB:Q5VVQ6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin thioesterase OTU1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VVQ6-1","PR:Q5VVQ6-1","ENSEMBL:ENSP00000326813","ENSEMBL:ENSP00000326813.4"],"information_content":100.0}
{"id":"UniProtKB:Q5VVW2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GTPase-activating Rap/Ran-GAP domain-like protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VVW2-1","PR:Q5VVW2-1","ENSEMBL:ENSP00000362485","ENSEMBL:ENSP00000362485.4"],"information_content":100.0}
{"id":"UniProtKB:Q5VVX9-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin-conjugating enzyme E2 U isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5VVX9-2","PR:Q5VVX9-2","ENSEMBL:ENSP00000360116","ENSEMBL:ENSP00000360116.3"],"information_content":100.0}
{"id":"UniProtKB:Q5VW22-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5VW22-2","PR:Q5VW22-2","ENSEMBL:ENSP00000500374","ENSEMBL:ENSP00000500374.1"],"information_content":100.0}
{"id":"UniProtKB:Q5VWK5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"interleukin-23 receptor isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VWK5-1","PR:Q5VWK5-1","ENSEMBL:ENSP00000321345","ENSEMBL:ENSP00000321345.5"],"information_content":100.0}
{"id":"UniProtKB:Q5VWN6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein TASOR 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VWN6-1","PR:Q5VWN6-1","ENSEMBL:ENSP00000328426","ENSEMBL:ENSP00000328426.5","ENSEMBL:ENSP00000512130","ENSEMBL:ENSP00000512130.1","ENSEMBL:ENSP00000512207","ENSEMBL:ENSP00000512207.1"],"information_content":100.0}
{"id":"UniProtKB:Q5VWP3-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"muscular LMNA-interacting protein isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q5VWP3-3","PR:Q5VWP3-3","ENSEMBL:ENSP00000426290","ENSEMBL:ENSP00000426290.1"],"information_content":100.0}
{"id":"UniProtKB:Q5VWQ0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lysine-specific demethylase 9 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VWQ0-1","PR:Q5VWQ0-1","ENSEMBL:ENSP00000261441","ENSEMBL:ENSP00000261441.5","ENSEMBL:ENSP00000479490","ENSEMBL:ENSP00000479490.1"],"information_content":100.0}
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{"id":"UniProtKB:Q5VWT5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FYN-binding protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VWT5-1","PR:Q5VWT5-1","ENSEMBL:ENSP00000345972","ENSEMBL:ENSP00000345972.6"],"information_content":100.0}
{"id":"UniProtKB:Q5VWW1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"complement C1q-like protein 3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5VWW1-1","PR:Q5VWW1-1","ENSEMBL:ENSP00000298943","ENSEMBL:ENSP00000298943.3"],"information_content":100.0}
{"id":"UniProtKB:Q5VWZ2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lysophospholipase-like protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VWZ2-1","PR:Q5VWZ2-1","ENSEMBL:ENSP00000355895","ENSEMBL:ENSP00000355895.5"],"information_content":100.0}
{"id":"UniProtKB:Q5VX71-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sushi domain-containing protein 4 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5VX71-1","PR:Q5VX71-1","ENSEMBL:ENSP00000344219","ENSEMBL:ENSP00000344219.3","ENSEMBL:ENSP00000355843","ENSEMBL:ENSP00000355843.4","ENSEMBL:ENSP00000505262","ENSEMBL:ENSP00000505262.1","ENSEMBL:ENSP00000505495","ENSEMBL:ENSP00000505495.1"],"information_content":100.0}
{"id":"UniProtKB:Q5VXM1-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"CUB domain-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VXM1-3","PR:Q5VXM1-3","ENSEMBL:ENSP00000489959","ENSEMBL:ENSP00000489959.1"],"information_content":100.0}
{"id":"UniProtKB:Q5VXT5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"synaptophysin-like protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VXT5-1","PR:Q5VXT5-1","ENSEMBL:ENSP00000358888","ENSEMBL:ENSP00000358888.3"],"information_content":100.0}
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{"id":"UniProtKB:Q5VXU3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cysteine-rich hydrophobic domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VXU3-1","PR:Q5VXU3-1","ENSEMBL:ENSP00000362601","ENSEMBL:ENSP00000362601.5"],"information_content":100.0}
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{"id":"UniProtKB:Q5VYM1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"spermatogenesis-associated protein 31G1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VYM1-1","PR:Q5VYM1-1","ENSEMBL:ENSP00000308279","ENSEMBL:ENSP00000308279.5"],"information_content":100.0}
{"id":"UniProtKB:Q5VYS8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"terminal uridylyltransferase 7 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VYS8-1","PR:Q5VYS8-1","ENSEMBL:ENSP00000365130","ENSEMBL:ENSP00000365130.3"],"information_content":100.0}
{"id":"UniProtKB:Q5VYX0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"renalase isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5VYX0-1","PR:Q5VYX0-1","ENSEMBL:ENSP00000332530","ENSEMBL:ENSP00000332530.4"],"information_content":100.0}
{"id":"UniProtKB:Q5VYY2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lipase member M isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VYY2-1","PR:Q5VYY2-1","ENSEMBL:ENSP00000383901","ENSEMBL:ENSP00000383901.3"],"information_content":100.0}
{"id":"UniProtKB:Q5VZ03-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nucleoredoxin-like protein 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5VZ03-1","PR:Q5VZ03-1","ENSEMBL:ENSP00000365014","ENSEMBL:ENSP00000365014.3","ENSEMBL:ENSP00000508470","ENSEMBL:ENSP00000508470.1","ENSEMBL:ENSP00000516996","ENSEMBL:ENSP00000516996.1","ENSEMBL:ENSP00000516997","ENSEMBL:ENSP00000516997.1"],"information_content":100.0}
{"id":"UniProtKB:Q5VZ46-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"uncharacterized protein KIAA1614 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VZ46-1","PR:Q5VZ46-1","ENSEMBL:ENSP00000356560","ENSEMBL:ENSP00000356560.4"],"information_content":100.0}
{"id":"UniProtKB:Q5VZ52-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"MORN repeat-containing protein 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VZ52-1","PR:Q5VZ52-1","ENSEMBL:ENSP00000362869","ENSEMBL:ENSP00000362869.3"],"information_content":100.0}
{"id":"UniProtKB:Q5VZ89-7","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DENN domain-containing protein 4C isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q5VZ89-7","PR:Q5VZ89-7","ENSEMBL:ENSP00000473469","ENSEMBL:ENSP00000473469.1"],"information_content":100.0}
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{"id":"UniProtKB:Q5VZI3-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 268 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q5VZI3-3","PR:Q5VZI3-3","ENSEMBL:ENSP00000363161","ENSEMBL:ENSP00000363161.4"],"information_content":100.0}
{"id":"UniProtKB:Q5VZK9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F-actin-uncapping protein LRRC16A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VZK9-1","PR:Q5VZK9-1","ENSEMBL:ENSP00000331983","ENSEMBL:ENSP00000331983.6"],"information_content":100.0}
{"id":"UniProtKB:Q5VZL5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger MYM-type protein 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VZL5-1","PR:Q5VZL5-1","ENSEMBL:ENSP00000322915","ENSEMBL:ENSP00000322915.6"],"information_content":100.0}
{"id":"UniProtKB:Q5VZM2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ras-related GTP-binding protein B isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q5VZM2-1","PR:Q5VZM2-1","ENSEMBL:ENSP00000262850","ENSEMBL:ENSP00000262850.7"],"information_content":100.0}
{"id":"UniProtKB:Q5VZR2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NUT family member 2G isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5VZR2-1","PR:Q5VZR2-1","ENSEMBL:ENSP00000361397","ENSEMBL:ENSP00000361397.3"],"information_content":100.0}
{"id":"UniProtKB:Q5W041-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"armadillo repeat-containing protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5W041-2","PR:Q5W041-2","ENSEMBL:ENSP00000298032","ENSEMBL:ENSP00000298032.5"],"information_content":100.0}
{"id":"UniProtKB:Q5W0A0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glutamate-rich protein 6B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5W0A0-1","PR:Q5W0A0-1","ENSEMBL:ENSP00000298738","ENSEMBL:ENSP00000298738.2"],"information_content":100.0}
{"id":"UniProtKB:Q5W0N0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"uncharacterized protein C9orf57 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5W0N0-1","PR:Q5W0N0-1","ENSEMBL:ENSP00000366223","ENSEMBL:ENSP00000366223.3"],"information_content":100.0}
{"id":"UniProtKB:Q5W0Q7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SUMO-specific isopeptidase USPL1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q5W0Q7-1","PR:Q5W0Q7-1","ENSEMBL:ENSP00000255304","ENSEMBL:ENSP00000255304.4"],"information_content":100.0}
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{"id":"UniProtKB:Q68CR1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein sel-1 homolog 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68CR1-1","PR:Q68CR1-1","ENSEMBL:ENSP00000382767","ENSEMBL:ENSP00000382767.3"],"information_content":100.0}
{"id":"UniProtKB:Q68CZ1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein fantom isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68CZ1-1","PR:Q68CZ1-1","ENSEMBL:ENSP00000493946","ENSEMBL:ENSP00000493946.1"],"information_content":100.0}
{"id":"UniProtKB:Q68CZ2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tensin-3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68CZ2-1","PR:Q68CZ2-1","ENSEMBL:ENSP00000312143","ENSEMBL:ENSP00000312143.9"],"information_content":100.0}
{"id":"UniProtKB:Q68D06-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Schlafen family member 13 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68D06-1","PR:Q68D06-1","ENSEMBL:ENSP00000285013","ENSEMBL:ENSP00000285013.6","ENSEMBL:ENSP00000434439","ENSEMBL:ENSP00000434439.1","ENSEMBL:ENSP00000444016","ENSEMBL:ENSP00000444016.1","ENSEMBL:ENSP00000467426","ENSEMBL:ENSP00000467426.1"],"information_content":100.0}
{"id":"UniProtKB:Q68D51-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DENN domain-containing protein 2C isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68D51-1","PR:Q68D51-1","ENSEMBL:ENSP00000376955","ENSEMBL:ENSP00000376955.1"],"information_content":100.0}
{"id":"UniProtKB:Q68D86-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coiled-coil domain-containing protein 102B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68D86-1","PR:Q68D86-1","ENSEMBL:ENSP00000353377","ENSEMBL:ENSP00000353377.5"],"information_content":100.0}
{"id":"UniProtKB:Q68D91-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"acyl-coenzyme A thioesterase MBLAC2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q68D91-1","PR:Q68D91-1","ENSEMBL:ENSP00000314776","ENSEMBL:ENSP00000314776.6"],"information_content":100.0}
{"id":"UniProtKB:Q68DA7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"formin-1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68DA7-1","PR:Q68DA7-1","ENSEMBL:ENSP00000479134","ENSEMBL:ENSP00000479134.1"],"information_content":100.0}
{"id":"UniProtKB:Q68DC2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ankyrin repeat and SAM domain-containing protein 6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68DC2-1","PR:Q68DC2-1","ENSEMBL:ENSP00000297837","ENSEMBL:ENSP00000297837.6"],"information_content":100.0}
{"id":"UniProtKB:Q68DK2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger FYVE domain-containing protein 26 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68DK2-1","PR:Q68DK2-1","ENSEMBL:ENSP00000251119","ENSEMBL:ENSP00000251119.5"],"information_content":100.0}
{"id":"UniProtKB:Q68DK7-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"male-specific lethal 1 homolog isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q68DK7-3","PR:Q68DK7-3","ENSEMBL:ENSP00000462945","ENSEMBL:ENSP00000462945.1"],"information_content":100.0}
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{"id":"UniProtKB:Q68DX3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FERM and PDZ domain-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68DX3-1","PR:Q68DX3-1","ENSEMBL:ENSP00000363317","ENSEMBL:ENSP00000363317.3"],"information_content":100.0}
{"id":"UniProtKB:Q68DY1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 626 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68DY1-1","PR:Q68DY1-1","ENSEMBL:ENSP00000469958","ENSEMBL:ENSP00000469958.1"],"information_content":100.0}
{"id":"UniProtKB:Q68DY9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 772 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68DY9-1","PR:Q68DY9-1","ENSEMBL:ENSP00000341165","ENSEMBL:ENSP00000341165.4"],"information_content":100.0}
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{"id":"UniProtKB:Q68EM7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Rho GTPase-activating protein 17 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68EM7-1","PR:Q68EM7-1","ENSEMBL:ENSP00000289968","ENSEMBL:ENSP00000289968.6","ENSEMBL:ENSP00000500372","ENSEMBL:ENSP00000500372.1"],"information_content":100.0}
{"id":"UniProtKB:Q68G74-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"LIM/homeobox protein Lhx8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68G74-1","PR:Q68G74-1","ENSEMBL:ENSP00000294638","ENSEMBL:ENSP00000294638.5"],"information_content":100.0}
{"id":"UniProtKB:Q68G75-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"LEM domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q68G75-1","PR:Q68G75-1","ENSEMBL:ENSP00000356119","ENSEMBL:ENSP00000356119.3","ENSEMBL:ENSP00000356121","ENSEMBL:ENSP00000356121.4"],"information_content":100.0}
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{"id":"UniProtKB:Q69YN4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein virilizer homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q69YN4-1","PR:Q69YN4-1","ENSEMBL:ENSP00000297591","ENSEMBL:ENSP00000297591.5"],"information_content":100.0}
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{"id":"UniProtKB:Q6AWC2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein WWC2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6AWC2-1","PR:Q6AWC2-1","ENSEMBL:ENSP00000384222","ENSEMBL:ENSP00000384222.3"],"information_content":100.0}
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{"id":"UniProtKB:Q6DHV5-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein CC2D2B isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q6DHV5-2","PR:Q6DHV5-2","ENSEMBL:ENSP00000386988","ENSEMBL:ENSP00000386988.2"],"information_content":100.0}
{"id":"UniProtKB:Q6DHV7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"N6-Methyl-AMP deaminase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6DHV7-1","PR:Q6DHV7-1","ENSEMBL:ENSP00000456242","ENSEMBL:ENSP00000456242.1"],"information_content":100.0}
{"id":"UniProtKB:Q6DJT9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein PLAG1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6DJT9-1","PR:Q6DJT9-1","ENSEMBL:ENSP00000325546","ENSEMBL:ENSP00000325546.3","ENSEMBL:ENSP00000416537","ENSEMBL:ENSP00000416537.2"],"information_content":100.0}
{"id":"UniProtKB:Q6DKI1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ribosomal protein uL30-like isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6DKI1-1","PR:Q6DKI1-1","ENSEMBL:ENSP00000346063","ENSEMBL:ENSP00000346063.4","ENSEMBL:ENSP00000418221","ENSEMBL:ENSP00000418221.3"],"information_content":100.0}
{"id":"UniProtKB:Q6DKJ4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nucleoredoxin isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q6DKJ4-1","PR:Q6DKJ4-1","ENSEMBL:ENSP00000337443","ENSEMBL:ENSP00000337443.3"],"information_content":100.0}
{"id":"UniProtKB:Q6DN12-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"multiple C2 and transmembrane domain-containing protein 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q6DN12-1","PR:Q6DN12-1","ENSEMBL:ENSP00000350377","ENSEMBL:ENSP00000350377.4"],"information_content":100.0}
{"id":"UniProtKB:Q6DN14-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"multiple C2 and transmembrane domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6DN14-1","PR:Q6DN14-1","ENSEMBL:ENSP00000424126","ENSEMBL:ENSP00000424126.1"],"information_content":100.0}
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{"id":"UniProtKB:Q6E0U4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dermokine isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6E0U4-1","PR:Q6E0U4-1","ENSEMBL:ENSP00000342012","ENSEMBL:ENSP00000342012.3"],"information_content":100.0}
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{"id":"UniProtKB:Q6EIG7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"C-type lectin domain family 6 member A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6EIG7-1","PR:Q6EIG7-1","ENSEMBL:ENSP00000371505","ENSEMBL:ENSP00000371505.3"],"information_content":100.0}
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{"id":"UniProtKB:Q6EMB2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tubulin polyglutamylase TTLL5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6EMB2-1","PR:Q6EMB2-1","ENSEMBL:ENSP00000298832","ENSEMBL:ENSP00000298832.9"],"information_content":100.0}
{"id":"UniProtKB:Q6F5E8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"capping protein, Arp2/3 and myosin-I linker protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6F5E8-1","PR:Q6F5E8-1","ENSEMBL:ENSP00000334958","ENSEMBL:ENSP00000334958.5"],"information_content":100.0}
{"id":"UniProtKB:Q6FI13","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"H2A2A_HUMAN Histone H2A type 2-A (sprot)","equivalent_identifiers":["UniProtKB:Q6FI13","PR:Q6FI13","ENSEMBL:ENSP00000358155","ENSEMBL:ENSP00000358155.2","ENSEMBL:ENSP00000475814","ENSEMBL:ENSP00000475814.1","UMLS:C5202682"],"information_content":78.8}
{"id":"UniProtKB:Q6FI81-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"anamorsin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6FI81-1","PR:Q6FI81-1","ENSEMBL:ENSP00000377914","ENSEMBL:ENSP00000377914.4"],"information_content":100.0}
{"id":"UniProtKB:Q6FIF0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"AN1-type zinc finger protein 6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6FIF0-1","PR:Q6FIF0-1","ENSEMBL:ENSP00000261749","ENSEMBL:ENSP00000261749.6","ENSEMBL:ENSP00000452735","ENSEMBL:ENSP00000452735.1","ENSEMBL:ENSP00000453291","ENSEMBL:ENSP00000453291.1","ENSEMBL:ENSP00000453709","ENSEMBL:ENSP00000453709.1","ENSEMBL:ENSP00000453888","ENSEMBL:ENSP00000453888.1","ENSEMBL:ENSP00000454137","ENSEMBL:ENSP00000454137.1","ENSEMBL:ENSP00000478129","ENSEMBL:ENSP00000478129.1","ENSEMBL:ENSP00000479071","ENSEMBL:ENSP00000479071.1","ENSEMBL:ENSP00000484971","ENSEMBL:ENSP00000484971.1"],"information_content":100.0}
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{"id":"UniProtKB:Q6IA69-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glutamine-dependent NAD(+) synthetase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6IA69-1","PR:Q6IA69-1","ENSEMBL:ENSP00000326424","ENSEMBL:ENSP00000326424.2"],"information_content":100.0}
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{"id":"UniProtKB:Q6IPX1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"TBC3C_HUMAN TBC1 domain family member 3C (sprot)","equivalent_identifiers":["UniProtKB:Q6IPX1","PR:Q6IPX1","ENSEMBL:ENSP00000482345","ENSEMBL:ENSP00000482345.1"],"information_content":100.0}
{"id":"UniProtKB:Q6IQ19-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centriole, cilia and spindle-associated protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6IQ19-1","PR:Q6IQ19-1","ENSEMBL:ENSP00000284617","ENSEMBL:ENSP00000284617.2","ENSEMBL:ENSP00000355648","ENSEMBL:ENSP00000355648.1"],"information_content":100.0}
{"id":"UniProtKB:Q6IQ26-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DENN domain-containing protein 5A isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q6IQ26-1","PR:Q6IQ26-1","ENSEMBL:ENSP00000328524","ENSEMBL:ENSP00000328524.3"],"information_content":100.0}
{"id":"UniProtKB:Q6IQ49-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"splicing regulator SDE2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6IQ49-1","PR:Q6IQ49-1","ENSEMBL:ENSP00000272091","ENSEMBL:ENSP00000272091.7"],"information_content":100.0}
{"id":"UniProtKB:Q6IQ55-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tau-tubulin kinase 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6IQ55-1","PR:Q6IQ55-1","ENSEMBL:ENSP00000267890","ENSEMBL:ENSP00000267890.6"],"information_content":100.0}
{"id":"UniProtKB:Q6ISB3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"grainyhead-like protein 2 homolog isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q6ISB3-1","PR:Q6ISB3-1","ENSEMBL:ENSP00000495564","ENSEMBL:ENSP00000495564.1"],"information_content":100.0}
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{"id":"UniProtKB:Q6IWH7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"anoctamin-7 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6IWH7-1","PR:Q6IWH7-1","ENSEMBL:ENSP00000274979","ENSEMBL:ENSP00000274979.8"],"information_content":100.0}
{"id":"UniProtKB:Q6J4K2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitochondrial sodium/calcium exchanger protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6J4K2-1","PR:Q6J4K2-1","ENSEMBL:ENSP00000202831","ENSEMBL:ENSP00000202831.3","ENSEMBL:ENSP00000447091","ENSEMBL:ENSP00000447091.1","ENSEMBL:ENSP00000506377","ENSEMBL:ENSP00000506377.1"],"information_content":100.0}
{"id":"UniProtKB:Q6JBY9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"CapZ-interacting protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6JBY9-1","PR:Q6JBY9-1","ENSEMBL:ENSP00000356828","ENSEMBL:ENSP00000356828.3"],"information_content":100.0}
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{"id":"UniProtKB:Q6JVE9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"epididymal-specific lipocalin-8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6JVE9-1","PR:Q6JVE9-1","ENSEMBL:ENSP00000482512","ENSEMBL:ENSP00000482512.1"],"information_content":100.0}
{"id":"UniProtKB:Q6K0P9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"pyrin and HIN domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6K0P9-1","PR:Q6K0P9-1","ENSEMBL:ENSP00000357122","ENSEMBL:ENSP00000357122.1"],"information_content":100.0}
{"id":"UniProtKB:Q6KB66-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"keratin, type II cytoskeletal 80 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q6KB66-1","PR:Q6KB66-1","ENSEMBL:ENSP00000378292","ENSEMBL:ENSP00000378292.2"],"information_content":100.0}
{"id":"UniProtKB:Q6KC79-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nipped-B-like protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6KC79-1","PR:Q6KC79-1","ENSEMBL:ENSP00000282516","ENSEMBL:ENSP00000282516.8"],"information_content":100.0}
{"id":"UniProtKB:Q6KCM7-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitochondrial adenyl nucleotide antiporter SLC25A25 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q6KCM7-3","PR:Q6KCM7-3","ENSEMBL:ENSP00000362160","ENSEMBL:ENSP00000362160.5"],"information_content":100.0}
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{"id":"UniProtKB:Q6MZP7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein lin-54 homolog isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q6MZP7-1","PR:Q6MZP7-1","ENSEMBL:ENSP00000341947","ENSEMBL:ENSP00000341947.3","ENSEMBL:ENSP00000425844","ENSEMBL:ENSP00000425844.1"],"information_content":100.0}
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{"id":"UniProtKB:Q6N021-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"methylcytosine dioxygenase TET2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6N021-1","PR:Q6N021-1","ENSEMBL:ENSP00000369351","ENSEMBL:ENSP00000369351.4","ENSEMBL:ENSP00000442788","ENSEMBL:ENSP00000442788.1"],"information_content":100.0}
{"id":"UniProtKB:Q6N043-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 280D isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6N043-1","PR:Q6N043-1","ENSEMBL:ENSP00000267807","ENSEMBL:ENSP00000267807.7"],"information_content":100.0}
{"id":"UniProtKB:Q6N063-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6N063-1","PR:Q6N063-1","ENSEMBL:ENSP00000228922","ENSEMBL:ENSP00000228922.7"],"information_content":100.0}
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{"id":"UniProtKB:Q6NSI4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RPA-related protein RADX isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6NSI4-1","PR:Q6NSI4-1","ENSEMBL:ENSP00000361628","ENSEMBL:ENSP00000361628.4"],"information_content":100.0}
{"id":"UniProtKB:Q6NSI8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SANT and BTB domain regulator of class switch recombination isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6NSI8-1","PR:Q6NSI8-1","ENSEMBL:ENSP00000385579","ENSEMBL:ENSP00000385579.1","ENSEMBL:ENSP00000416795","ENSEMBL:ENSP00000416795.1"],"information_content":100.0}
{"id":"UniProtKB:Q6NSJ2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"pleckstrin homology-like domain family B member 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6NSJ2-1","PR:Q6NSJ2-1","ENSEMBL:ENSP00000292140","ENSEMBL:ENSP00000292140.5"],"information_content":100.0}
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{"id":"UniProtKB:Q6NTF9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"rhomboid domain-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6NTF9-1","PR:Q6NTF9-1","ENSEMBL:ENSP00000006777","ENSEMBL:ENSP00000006777.6"],"information_content":100.0}
{"id":"UniProtKB:Q6NUI2-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glycerol-3-phosphate acyltransferase 2, mitochondrial isoform 3 (human)","equivalent_identifiers":["UniProtKB:Q6NUI2-4","PR:Q6NUI2-4","ENSEMBL:ENSP00000389395","ENSEMBL:ENSP00000389395.2"],"information_content":100.0}
{"id":"UniProtKB:Q6NUI6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"chondroadherin-like protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6NUI6-1","PR:Q6NUI6-1","ENSEMBL:ENSP00000216241","ENSEMBL:ENSP00000216241.9"],"information_content":100.0}
{"id":"UniProtKB:Q6NUJ5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"PWWP domain-containing protein 2B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6NUJ5-1","PR:Q6NUJ5-1","ENSEMBL:ENSP00000306324","ENSEMBL:ENSP00000306324.5"],"information_content":100.0}
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{"id":"UniProtKB:Q6NUM9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"all-trans-retinol 13,14-reductase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6NUM9-1","PR:Q6NUM9-1","ENSEMBL:ENSP00000295802","ENSEMBL:ENSP00000295802.4","ENSEMBL:ENSP00000517901","ENSEMBL:ENSP00000517901.1"],"information_content":100.0}
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{"id":"UniProtKB:Q6PH81-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"UPF0547 protein C16orf87 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6PH81-1","PR:Q6PH81-1","ENSEMBL:ENSP00000285697","ENSEMBL:ENSP00000285697.4"],"information_content":100.0}
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{"id":"UniProtKB:Q6QNK2-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"adhesion G-protein coupled receptor D1 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q6QNK2-4","PR:Q6QNK2-4","ENSEMBL:ENSP00000444425","ENSEMBL:ENSP00000444425.1"],"information_content":100.0}
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{"id":"UniProtKB:Q6ZNC8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lysophospholipid acyltransferase 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZNC8-1","PR:Q6ZNC8-1","ENSEMBL:ENSP00000324944","ENSEMBL:ENSP00000324944.7"],"information_content":100.0}
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{"id":"UniProtKB:Q6ZNG0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 620 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZNG0-1","PR:Q6ZNG0-1","ENSEMBL:ENSP00000322265","ENSEMBL:ENSP00000322265.6"],"information_content":100.0}
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{"id":"UniProtKB:Q6ZNL6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FYVE, RhoGEF and PH domain-containing protein 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZNL6-1","PR:Q6ZNL6-1","ENSEMBL:ENSP00000285046","ENSEMBL:ENSP00000285046.5"],"information_content":100.0}
{"id":"UniProtKB:Q6ZNQ3-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine-rich repeat-containing protein 69 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q6ZNQ3-2","PR:Q6ZNQ3-2","ENSEMBL:ENSP00000343221","ENSEMBL:ENSP00000343221.3"],"information_content":100.0}
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{"id":"UniProtKB:Q6ZT98-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tubulin polyglutamylase TTLL7 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZT98-1","PR:Q6ZT98-1","ENSEMBL:ENSP00000260505","ENSEMBL:ENSP00000260505.8"],"information_content":100.0}
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{"id":"UniProtKB:Q6ZTQ3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ras association domain-containing protein 6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZTQ3-1","PR:Q6ZTQ3-1","ENSEMBL:ENSP00000340578","ENSEMBL:ENSP00000340578.3"],"information_content":100.0}
{"id":"UniProtKB:Q6ZTQ4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cadherin-related family member 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZTQ4-1","PR:Q6ZTQ4-1","ENSEMBL:ENSP00000325954","ENSEMBL:ENSP00000325954.9"],"information_content":100.0}
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{"id":"UniProtKB:Q6ZU64-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cilia- and flagella-associated protein 65 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZU64-1","PR:Q6ZU64-1","ENSEMBL:ENSP00000340776","ENSEMBL:ENSP00000340776.5","ENSEMBL:ENSP00000409117","ENSEMBL:ENSP00000409117.1"],"information_content":100.0}
{"id":"UniProtKB:Q6ZU65-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubinuclein-2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZU65-1","PR:Q6ZU65-1","ENSEMBL:ENSP00000418648","ENSEMBL:ENSP00000418648.2"],"information_content":100.0}
{"id":"UniProtKB:Q6ZU67-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"BEN domain-containing protein 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZU67-1","PR:Q6ZU67-1","ENSEMBL:ENSP00000421169","ENSEMBL:ENSP00000421169.1"],"information_content":100.0}
{"id":"UniProtKB:Q6ZU80-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centrosomal protein of 128 kDa isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q6ZU80-2","PR:Q6ZU80-2","ENSEMBL:ENSP00000281129","ENSEMBL:ENSP00000281129.3","ENSEMBL:ENSP00000451162","ENSEMBL:ENSP00000451162.1"],"information_content":100.0}
{"id":"UniProtKB:Q6ZUJ8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phosphoinositide 3-kinase adapter protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZUJ8-1","PR:Q6ZUJ8-1","ENSEMBL:ENSP00000339826","ENSEMBL:ENSP00000339826.5"],"information_content":100.0}
{"id":"UniProtKB:Q6ZUK4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 26 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZUK4-1","PR:Q6ZUK4-1","ENSEMBL:ENSP00000382237","ENSEMBL:ENSP00000382237.3","ENSEMBL:ENSP00000425286","ENSEMBL:ENSP00000425286.1"],"information_content":100.0}
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{"id":"UniProtKB:Q6ZV73-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FYVE, RhoGEF and PH domain-containing protein 6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZV73-1","PR:Q6ZV73-1","ENSEMBL:ENSP00000344446","ENSEMBL:ENSP00000344446.4"],"information_content":100.0}
{"id":"UniProtKB:Q6ZV89-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SH2 domain-containing protein 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZV89-1","PR:Q6ZV89-1","ENSEMBL:ENSP00000406026","ENSEMBL:ENSP00000406026.2"],"information_content":100.0}
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{"id":"UniProtKB:Q6ZVK8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"8-oxo-dGDP phosphatase NUDT18 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q6ZVK8-1","PR:Q6ZVK8-1","ENSEMBL:ENSP00000480722","ENSEMBL:ENSP00000480722.1"],"information_content":100.0}
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{"id":"UniProtKB:Q6ZW31-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Rho GTPase-activating protein SYDE1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZW31-1","PR:Q6ZW31-1","ENSEMBL:ENSP00000341489","ENSEMBL:ENSP00000341489.1"],"information_content":100.0}
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{"id":"UniProtKB:Q6ZW76-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ankyrin repeat and SAM domain-containing protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZW76-1","PR:Q6ZW76-1","ENSEMBL:ENSP00000304586","ENSEMBL:ENSP00000304586.4","ENSEMBL:ENSP00000480350","ENSEMBL:ENSP00000480350.1"],"information_content":100.0}
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{"id":"UniProtKB:Q6ZWE6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"pleckstrin homology domain-containing family M member 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZWE6-1","PR:Q6ZWE6-1","ENSEMBL:ENSP00000417003","ENSEMBL:ENSP00000417003.2"],"information_content":100.0}
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{"id":"UniProtKB:Q6ZWJ1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"syntaxin-binding protein 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q6ZWJ1-1","PR:Q6ZWJ1-1","ENSEMBL:ENSP00000365530","ENSEMBL:ENSP00000365530.2"],"information_content":100.0}
{"id":"UniProtKB:Q6ZWL3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytochrome P450 4V2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q6ZWL3-1","PR:Q6ZWL3-1","ENSEMBL:ENSP00000368079","ENSEMBL:ENSP00000368079.4"],"information_content":100.0}
{"id":"UniProtKB:Q6ZXV5-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein O-mannosyl-transferase TMTC3 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q6ZXV5-2","PR:Q6ZXV5-2","ENSEMBL:ENSP00000266712","ENSEMBL:ENSP00000266712.6"],"information_content":100.0}
{"id":"UniProtKB:Q702N8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Xin actin-binding repeat-containing protein 1 isoform A (human)","equivalent_identifiers":["UniProtKB:Q702N8-1","PR:Q702N8-1","ENSEMBL:ENSP00000343140","ENSEMBL:ENSP00000343140.3"],"information_content":100.0}
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{"id":"UniProtKB:Q709F0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"acyl-CoA dehydrogenase family member 11 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q709F0-1","PR:Q709F0-1","ENSEMBL:ENSP00000264990","ENSEMBL:ENSP00000264990.6"],"information_content":100.0}
{"id":"UniProtKB:Q70CQ1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin carboxyl-terminal hydrolase 49 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q70CQ1-1","PR:Q70CQ1-1","ENSEMBL:ENSP00000377797","ENSEMBL:ENSP00000377797.2","ENSEMBL:ENSP00000507239","ENSEMBL:ENSP00000507239.1"],"information_content":100.0}
{"id":"UniProtKB:Q70CQ2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin carboxyl-terminal hydrolase 34 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q70CQ2-1","PR:Q70CQ2-1","ENSEMBL:ENSP00000381577","ENSEMBL:ENSP00000381577.2"],"information_content":100.0}
{"id":"UniProtKB:Q70CQ4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin carboxyl-terminal hydrolase 31 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q70CQ4-1","PR:Q70CQ4-1","ENSEMBL:ENSP00000219689","ENSEMBL:ENSP00000219689.7"],"information_content":100.0}
{"id":"UniProtKB:Q70E73-10","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ras-associated and pleckstrin homology domains-containing protein 1 isoform hRMO1-RAPH1 (human)","equivalent_identifiers":["UniProtKB:Q70E73-10","PR:Q70E73-10","ENSEMBL:ENSP00000316543","ENSEMBL:ENSP00000316543.5"],"information_content":100.0}
{"id":"UniProtKB:Q70EL1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin carboxyl-terminal hydrolase 54 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q70EL1-1","PR:Q70EL1-1","ENSEMBL:ENSP00000345216","ENSEMBL:ENSP00000345216.4","ENSEMBL:ENSP00000510226","ENSEMBL:ENSP00000510226.1"],"information_content":100.0}
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{"id":"UniProtKB:Q7RTV3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 367 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q7RTV3-1","PR:Q7RTV3-1","ENSEMBL:ENSP00000364405","ENSEMBL:ENSP00000364405.4"],"information_content":100.0}
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{"id":"UniProtKB:Q7Z417-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FMR1-interacting protein NUFIP2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q7Z417-1","PR:Q7Z417-1","ENSEMBL:ENSP00000225388","ENSEMBL:ENSP00000225388.3"],"information_content":100.0}
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{"id":"UniProtKB:Q7Z4Q2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"HEAT repeat-containing protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q7Z4Q2-1","PR:Q7Z4Q2-1","ENSEMBL:ENSP00000299192","ENSEMBL:ENSP00000299192.7"],"information_content":100.0}
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{"id":"UniProtKB:Q86SU0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"immunoglobulin-like domain-containing receptor 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86SU0-1","PR:Q86SU0-1","ENSEMBL:ENSP00000345667","ENSEMBL:ENSP00000345667.5"],"information_content":100.0}
{"id":"UniProtKB:Q86SX3-6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tubulin epsilon and delta complex protein 1 isoform h6 (human)","equivalent_identifiers":["UniProtKB:Q86SX3-6","PR:Q86SX3-6","ENSEMBL:ENSP00000376307","ENSEMBL:ENSP00000376307.3"],"information_content":100.0}
{"id":"UniProtKB:Q86SZ2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"trafficking protein particle complex subunit 6B isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q86SZ2-1","PR:Q86SZ2-1","ENSEMBL:ENSP00000330289","ENSEMBL:ENSP00000330289.5"],"information_content":100.0}
{"id":"UniProtKB:Q86T03-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q86T03-2","PR:Q86T03-2","ENSEMBL:ENSP00000381102","ENSEMBL:ENSP00000381102.4","ENSEMBL:ENSP00000517359","ENSEMBL:ENSP00000517359.1"],"information_content":100.0}
{"id":"UniProtKB:Q86T65-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"disheveled-associated activator of morphogenesis 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86T65-3","PR:Q86T65-3","ENSEMBL:ENSP00000274867","ENSEMBL:ENSP00000274867.4","ENSEMBL:ENSP00000381876","ENSEMBL:ENSP00000381876.2"],"information_content":100.0}
{"id":"UniProtKB:Q86T75-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NBPF family member NBPF11 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86T75-1","PR:Q86T75-1","ENSEMBL:ENSP00000477509","ENSEMBL:ENSP00000477509.1","ENSEMBL:ENSP00000484213","ENSEMBL:ENSP00000484213.1","ENSEMBL:ENSP00000507808","ENSEMBL:ENSP00000507808.1"],"information_content":100.0}
{"id":"UniProtKB:Q86T82-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin carboxyl-terminal hydrolase 37 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86T82-1","PR:Q86T82-1","ENSEMBL:ENSP00000258399","ENSEMBL:ENSP00000258399.3","ENSEMBL:ENSP00000393662","ENSEMBL:ENSP00000393662.1","ENSEMBL:ENSP00000396585","ENSEMBL:ENSP00000396585.1"],"information_content":100.0}
{"id":"UniProtKB:Q86T90-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein hinderin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86T90-1","PR:Q86T90-1","ENSEMBL:ENSP00000280020","ENSEMBL:ENSP00000280020.5"],"information_content":100.0}
{"id":"UniProtKB:Q86T96-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase RNF180 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86T96-1","PR:Q86T96-1","ENSEMBL:ENSP00000373752","ENSEMBL:ENSP00000373752.4"],"information_content":100.0}
{"id":"UniProtKB:Q86TB9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein PAT1 homolog 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q86TB9-1","PR:Q86TB9-1","ENSEMBL:ENSP00000300146","ENSEMBL:ENSP00000300146.9"],"information_content":100.0}
{"id":"UniProtKB:Q86TC9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"myopalladin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86TC9-1","PR:Q86TC9-1","ENSEMBL:ENSP00000351790","ENSEMBL:ENSP00000351790.5","ENSEMBL:ENSP00000480757","ENSEMBL:ENSP00000480757.2"],"information_content":100.0}
{"id":"UniProtKB:Q86TD4-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sarcalumenin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86TD4-2","PR:Q86TD4-2","ENSEMBL:ENSP00000382518","ENSEMBL:ENSP00000382518.3"],"information_content":100.0}
{"id":"UniProtKB:Q86TE4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine zipper protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86TE4-1","PR:Q86TE4-1","ENSEMBL:ENSP00000336817","ENSEMBL:ENSP00000336817.6"],"information_content":100.0}
{"id":"UniProtKB:Q86TG1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 150A isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q86TG1-1","PR:Q86TG1-1","ENSEMBL:ENSP00000334708","ENSEMBL:ENSP00000334708.5","ENSEMBL:ENSP00000387292","ENSEMBL:ENSP00000387292.1"],"information_content":100.0}
{"id":"UniProtKB:Q86TG7-5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"retrotransposon-derived protein PEG10 isoform h5 (human)","equivalent_identifiers":["UniProtKB:Q86TG7-5","PR:Q86TG7-5","ENSEMBL:ENSP00000418944","ENSEMBL:ENSP00000418944.2"],"information_content":100.0}
{"id":"UniProtKB:Q86TI0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"TBC1 domain family member 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86TI0-1","PR:Q86TI0-1","ENSEMBL:ENSP00000261439","ENSEMBL:ENSP00000261439.4"],"information_content":100.0}
{"id":"UniProtKB:Q86TI2-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dipeptidyl peptidase 9 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q86TI2-2","PR:Q86TI2-2","ENSEMBL:ENSP00000262960","ENSEMBL:ENSP00000262960.8","ENSEMBL:ENSP00000471629","ENSEMBL:ENSP00000471629.2","ENSEMBL:ENSP00000472549","ENSEMBL:ENSP00000472549.2"],"information_content":100.0}
{"id":"UniProtKB:Q86TI4-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"WD repeat-containing protein 86 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q86TI4-4","PR:Q86TI4-4","ENSEMBL:ENSP00000419162","ENSEMBL:ENSP00000419162.2"],"information_content":100.0}
{"id":"UniProtKB:Q86TL0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cysteine protease ATG4D isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86TL0-1","PR:Q86TL0-1","ENSEMBL:ENSP00000311318","ENSEMBL:ENSP00000311318.3"],"information_content":100.0}
{"id":"UniProtKB:Q86TM6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase synoviolin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86TM6-1","PR:Q86TM6-1","ENSEMBL:ENSP00000366395","ENSEMBL:ENSP00000366395.3"],"information_content":100.0}
{"id":"UniProtKB:Q86TN4-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tRNA 2'-phosphotransferase 1 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q86TN4-4","PR:Q86TN4-4","ENSEMBL:ENSP00000378050","ENSEMBL:ENSP00000378050.2"],"information_content":100.0}
{"id":"UniProtKB:Q86TP1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"exopolyphosphatase PRUNE1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86TP1-1","PR:Q86TP1-1","ENSEMBL:ENSP00000271620","ENSEMBL:ENSP00000271620.3"],"information_content":100.0}
{"id":"UniProtKB:Q86TS9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"large ribosomal subunit protein mL52 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86TS9-1","PR:Q86TS9-1","ENSEMBL:ENSP00000347277","ENSEMBL:ENSP00000347277.5"],"information_content":100.0}
{"id":"UniProtKB:Q86TU7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"actin-histidine N-methyltransferase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86TU7-1","PR:Q86TU7-1","ENSEMBL:ENSP00000327436","ENSEMBL:ENSP00000327436.5"],"information_content":100.0}
{"id":"UniProtKB:Q86TV6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tetratricopeptide repeat protein 7B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86TV6-1","PR:Q86TV6-1","ENSEMBL:ENSP00000336127","ENSEMBL:ENSP00000336127.4"],"information_content":100.0}
{"id":"UniProtKB:Q86TW2-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"AarF domain-containing protein kinase 1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q86TW2-2","PR:Q86TW2-2","ENSEMBL:ENSP00000238561","ENSEMBL:ENSP00000238561.5"],"information_content":100.0}
{"id":"UniProtKB:Q86U06-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"probable RNA-binding protein 23 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86U06-1","PR:Q86U06-1","ENSEMBL:ENSP00000352956","ENSEMBL:ENSP00000352956.3"],"information_content":100.0}
{"id":"UniProtKB:Q86U10-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"60 kDa lysophospholipase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86U10-1","PR:Q86U10-1","ENSEMBL:ENSP00000450040","ENSEMBL:ENSP00000450040.1"],"information_content":100.0}
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{"id":"UniProtKB:Q86U42-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"polyadenylate-binding protein 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q86U42-1","PR:Q86U42-1","ENSEMBL:ENSP00000216727","ENSEMBL:ENSP00000216727.4"],"information_content":100.0}
{"id":"UniProtKB:Q86U44-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"N(6)-adenosine-methyltransferase catalytic subunit METTL3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q86U44-1","PR:Q86U44-1","ENSEMBL:ENSP00000298717","ENSEMBL:ENSP00000298717.3"],"information_content":100.0}
{"id":"UniProtKB:Q86U70-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"LIM domain-binding protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q86U70-1","PR:Q86U70-1","ENSEMBL:ENSP00000501277","ENSEMBL:ENSP00000501277.1"],"information_content":100.0}
{"id":"UniProtKB:Q86U86-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein polybromo-1 isoform 2 (human)","equivalent_identifiers":["UniProtKB:Q86U86-2","PR:Q86U86-2","ENSEMBL:ENSP00000386593","ENSEMBL:ENSP00000386593.1"],"information_content":100.0}
{"id":"UniProtKB:Q86UA1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"pre-mRNA-processing factor 39 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86UA1-1","PR:Q86UA1-1","ENSEMBL:ENSP00000348010","ENSEMBL:ENSP00000348010.6"],"information_content":100.0}
{"id":"UniProtKB:Q86UA6-8","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RPA-interacting protein isoform h8 (human)","equivalent_identifiers":["UniProtKB:Q86UA6-8","PR:Q86UA6-8","ENSEMBL:ENSP00000385814","ENSEMBL:ENSP00000385814.4"],"information_content":100.0}
{"id":"UniProtKB:Q86UB2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"basic immunoglobulin-like variable motif-containing protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86UB2-1","PR:Q86UB2-1","ENSEMBL:ENSP00000257336","ENSEMBL:ENSP00000257336.1","ENSEMBL:ENSP00000498544","ENSEMBL:ENSP00000498544.1"],"information_content":100.0}
{"id":"UniProtKB:Q86UB9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 135 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q86UB9-1","PR:Q86UB9-1","ENSEMBL:ENSP00000306344","ENSEMBL:ENSP00000306344.5"],"information_content":100.0}
{"id":"UniProtKB:Q86UD3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase MARCHF3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q86UD3-1","PR:Q86UD3-1","ENSEMBL:ENSP00000309141","ENSEMBL:ENSP00000309141.5"],"information_content":100.0}
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{"id":"UniProtKB:Q86V48-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine zipper protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86V48-1","PR:Q86V48-1","ENSEMBL:ENSP00000303758","ENSEMBL:ENSP00000303758.4","ENSEMBL:ENSP00000428061","ENSEMBL:ENSP00000428061.2","ENSEMBL:ENSP00000429657","ENSEMBL:ENSP00000429657.2","ENSEMBL:ENSP00000516586","ENSEMBL:ENSP00000516586.2","ENSEMBL:ENSP00000518969","ENSEMBL:ENSP00000518969.1"],"information_content":100.0}
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{"id":"UniProtKB:Q86VD1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"MORC family CW-type zinc finger protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86VD1-1","PR:Q86VD1-1","ENSEMBL:ENSP00000232603","ENSEMBL:ENSP00000232603.5"],"information_content":100.0}
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{"id":"UniProtKB:Q86VE9-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine incorporator 5 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q86VE9-4","PR:Q86VE9-4","ENSEMBL:ENSP00000426237","ENSEMBL:ENSP00000426237.3"],"information_content":100.0}
{"id":"UniProtKB:Q86VG3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"intraflagellar transport-associated protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86VG3-1","PR:Q86VG3-1","ENSEMBL:ENSP00000334848","ENSEMBL:ENSP00000334848.5","ENSEMBL:ENSP00000403937","ENSEMBL:ENSP00000403937.3","ENSEMBL:ENSP00000431374","ENSEMBL:ENSP00000431374.2","ENSEMBL:ENSP00000432685","ENSEMBL:ENSP00000432685.2","ENSEMBL:ENSP00000433407","ENSEMBL:ENSP00000433407.2","ENSEMBL:ENSP00000483671","ENSEMBL:ENSP00000483671.1","ENSEMBL:ENSP00000503448","ENSEMBL:ENSP00000503448.1","ENSEMBL:ENSP00000504720","ENSEMBL:ENSP00000504720.1"],"information_content":100.0}
{"id":"UniProtKB:Q86VH2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kinesin-like protein KIF27 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86VH2-1","PR:Q86VH2-1","ENSEMBL:ENSP00000297814","ENSEMBL:ENSP00000297814.2"],"information_content":100.0}
{"id":"UniProtKB:Q86VH5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine-rich repeat transmembrane neuronal protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86VH5-1","PR:Q86VH5-1","ENSEMBL:ENSP00000355187","ENSEMBL:ENSP00000355187.3"],"information_content":100.0}
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{"id":"UniProtKB:Q86VZ6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"juxtaposed with another zinc finger protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q86VZ6-1","PR:Q86VZ6-1","ENSEMBL:ENSP00000283928","ENSEMBL:ENSP00000283928.5"],"information_content":100.0}
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{"id":"UniProtKB:Q86W28-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NACHT, LRR and PYD domains-containing protein 8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86W28-1","PR:Q86W28-1","ENSEMBL:ENSP00000291971","ENSEMBL:ENSP00000291971.3"],"information_content":100.0}
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{"id":"UniProtKB:Q86W74-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ankyrin repeat domain-containing protein 46 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q86W74-1","PR:Q86W74-1","ENSEMBL:ENSP00000429015","ENSEMBL:ENSP00000429015.1"],"information_content":100.0}
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{"id":"UniProtKB:Q86WA8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Lon protease homolog 2, peroxisomal isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q86WA8-1","PR:Q86WA8-1","ENSEMBL:ENSP00000285737","ENSEMBL:ENSP00000285737.4"],"information_content":100.0}
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{"id":"UniProtKB:Q86WB7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein unc-93 homolog A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86WB7-1","PR:Q86WB7-1","ENSEMBL:ENSP00000230256","ENSEMBL:ENSP00000230256.3"],"information_content":100.0}
{"id":"UniProtKB:Q86WD7-7","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serpin A9 isoform h7 (human)","equivalent_identifiers":["UniProtKB:Q86WD7-7","PR:Q86WD7-7","ENSEMBL:ENSP00000337133","ENSEMBL:ENSP00000337133.5"],"information_content":100.0}
{"id":"UniProtKB:Q86WG3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"caytaxin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86WG3-1","PR:Q86WG3-1","ENSEMBL:ENSP00000390941","ENSEMBL:ENSP00000390941.1"],"information_content":100.0}
{"id":"UniProtKB:Q86WG5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"myotubularin-related protein 13 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86WG5-1","PR:Q86WG5-1","ENSEMBL:ENSP00000256190","ENSEMBL:ENSP00000256190.8"],"information_content":100.0}
{"id":"UniProtKB:Q86WH2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ras association domain-containing protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86WH2-1","PR:Q86WH2-1","ENSEMBL:ENSP00000443021","ENSEMBL:ENSP00000443021.1"],"information_content":100.0}
{"id":"UniProtKB:Q86WI0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"LHFPL tetraspan subfamily member 1 protein isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q86WI0-1","PR:Q86WI0-1","ENSEMBL:ENSP00000361036","ENSEMBL:ENSP00000361036.3"],"information_content":100.0}
{"id":"UniProtKB:Q86WI3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein NLRC5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86WI3-1","PR:Q86WI3-1","ENSEMBL:ENSP00000262510","ENSEMBL:ENSP00000262510.6","ENSEMBL:ENSP00000509992","ENSEMBL:ENSP00000509992.1"],"information_content":100.0}
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{"id":"UniProtKB:Q86WV1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Src kinase-associated phosphoprotein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86WV1-1","PR:Q86WV1-1","ENSEMBL:ENSP00000338171","ENSEMBL:ENSP00000338171.6","ENSEMBL:ENSP00000464311","ENSEMBL:ENSP00000464311.1"],"information_content":100.0}
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{"id":"UniProtKB:Q86X29-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lipolysis-stimulated lipoprotein receptor isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86X29-1","PR:Q86X29-1","ENSEMBL:ENSP00000480821","ENSEMBL:ENSP00000480821.1"],"information_content":100.0}
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{"id":"UniProtKB:Q86X55-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"histone-arginine methyltransferase CARM1 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q86X55-3","PR:Q86X55-3","ENSEMBL:ENSP00000325690","ENSEMBL:ENSP00000325690.4"],"information_content":100.0}
{"id":"UniProtKB:Q86X76-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"deaminated glutathione amidase isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q86X76-1","PR:Q86X76-1","ENSEMBL:ENSP00000356988","ENSEMBL:ENSP00000356988.2"],"information_content":100.0}
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{"id":"UniProtKB:Q86XN8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RNA-binding protein MEX3D isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86XN8-1","PR:Q86XN8-1","ENSEMBL:ENSP00000384398","ENSEMBL:ENSP00000384398.3"],"information_content":100.0}
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{"id":"UniProtKB:Q86XR7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"TIR domain-containing adapter molecule 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q86XR7-1","PR:Q86XR7-1","ENSEMBL:ENSP00000415139","ENSEMBL:ENSP00000415139.3"],"information_content":92.8}
{"id":"UniProtKB:Q86XR8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centrosomal protein of 57 kDa isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86XR8-1","PR:Q86XR8-1","ENSEMBL:ENSP00000317902","ENSEMBL:ENSP00000317902.5"],"information_content":100.0}
{"id":"UniProtKB:Q86XS8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase RNF130 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q86XS8-1","PR:Q86XS8-1","ENSEMBL:ENSP00000430237","ENSEMBL:ENSP00000430237.1"],"information_content":100.0}
{"id":"UniProtKB:Q86XT4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase TRIM50 isoform Alpha (human)","equivalent_identifiers":["UniProtKB:Q86XT4-1","PR:Q86XT4-1","ENSEMBL:ENSP00000327994","ENSEMBL:ENSP00000327994.2","ENSEMBL:ENSP00000413875","ENSEMBL:ENSP00000413875.1"],"information_content":100.0}
{"id":"UniProtKB:Q86XW9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"thioredoxin domain-containing protein 6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86XW9-1","PR:Q86XW9-1","ENSEMBL:ENSP00000335444","ENSEMBL:ENSP00000335444.3"],"information_content":100.0}
{"id":"UniProtKB:Q86XX4-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"extracellular matrix organizing protein FRAS1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q86XX4-2","PR:Q86XX4-2","ENSEMBL:ENSP00000422834","ENSEMBL:ENSP00000422834.2"],"information_content":100.0}
{"id":"UniProtKB:Q86Y07-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine/threonine-protein kinase VRK2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86Y07-1","PR:Q86Y07-1","ENSEMBL:ENSP00000342381","ENSEMBL:ENSP00000342381.4","ENSEMBL:ENSP00000408002","ENSEMBL:ENSP00000408002.2"],"information_content":100.0}
{"id":"UniProtKB:Q86Y26-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NUT family member 1 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q86Y26-4","PR:Q86Y26-4","ENSEMBL:ENSP00000444896","ENSEMBL:ENSP00000444896.1"],"information_content":100.0}
{"id":"UniProtKB:Q86Y33-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cell division cycle protein 20 homolog B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86Y33-1","PR:Q86Y33-1","ENSEMBL:ENSP00000370781","ENSEMBL:ENSP00000370781.2"],"information_content":100.0}
{"id":"UniProtKB:Q86Y39-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q86Y39-2","PR:Q86Y39-2","ENSEMBL:ENSP00000389160","ENSEMBL:ENSP00000389160.1","ENSEMBL:ENSP00000517806","ENSEMBL:ENSP00000517806.1"],"information_content":100.0}
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{"id":"UniProtKB:Q86Y56-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dynein axonemal assembly factor 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86Y56-1","PR:Q86Y56-1","ENSEMBL:ENSP00000297440","ENSEMBL:ENSP00000297440.6"],"information_content":100.0}
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{"id":"UniProtKB:Q86Y91-5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kinesin-like protein KIF18B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q86Y91-5","PR:Q86Y91-5","ENSEMBL:ENSP00000465992","ENSEMBL:ENSP00000465992.1"],"information_content":100.0}
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{"id":"UniProtKB:Q8IV63-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine/threonine-protein kinase VRK3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IV63-1","PR:Q8IV63-1","ENSEMBL:ENSP00000324636","ENSEMBL:ENSP00000324636.2","ENSEMBL:ENSP00000469880","ENSEMBL:ENSP00000469880.1","ENSEMBL:ENSP00000473171","ENSEMBL:ENSP00000473171.1"],"information_content":100.0}
{"id":"UniProtKB:Q8IV76-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"circadian clock protein PASD1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IV76-1","PR:Q8IV76-1","ENSEMBL:ENSP00000359382","ENSEMBL:ENSP00000359382.4"],"information_content":100.0}
{"id":"UniProtKB:Q8IV77-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cyclic nucleotide-gated channel alpha-4 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8IV77-1","PR:Q8IV77-1","ENSEMBL:ENSP00000369268","ENSEMBL:ENSP00000369268.2"],"information_content":100.0}
{"id":"UniProtKB:Q8IVA1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Purkinje cell protein 2 homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVA1-1","PR:Q8IVA1-1","ENSEMBL:ENSP00000310585","ENSEMBL:ENSP00000310585.4"],"information_content":100.0}
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{"id":"UniProtKB:Q8IVF1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NUT family member 2A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVF1-1","PR:Q8IVF1-1","ENSEMBL:ENSP00000371126","ENSEMBL:ENSP00000371126.1"],"information_content":100.0}
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{"id":"UniProtKB:Q8IVF4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dynein axonemal heavy chain 10 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVF4-1","PR:Q8IVF4-1","ENSEMBL:ENSP00000489675","ENSEMBL:ENSP00000489675.1"],"information_content":100.0}
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{"id":"UniProtKB:Q8IVF6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ankyrin repeat domain-containing protein 18A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVF6-1","PR:Q8IVF6-1","ENSEMBL:ENSP00000382610","ENSEMBL:ENSP00000382610.4"],"information_content":100.0}
{"id":"UniProtKB:Q8IVF7-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"formin-like protein 3 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q8IVF7-3","PR:Q8IVF7-3","ENSEMBL:ENSP00000335655","ENSEMBL:ENSP00000335655.5"],"information_content":100.0}
{"id":"UniProtKB:Q8IVG5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sterile alpha motif domain-containing protein 9-like isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVG5-1","PR:Q8IVG5-1","ENSEMBL:ENSP00000326247","ENSEMBL:ENSP00000326247.4","ENSEMBL:ENSP00000391387","ENSEMBL:ENSP00000391387.2","ENSEMBL:ENSP00000391699","ENSEMBL:ENSP00000391699.2","ENSEMBL:ENSP00000396137","ENSEMBL:ENSP00000396137.2","ENSEMBL:ENSP00000405760","ENSEMBL:ENSP00000405760.1","ENSEMBL:ENSP00000408796","ENSEMBL:ENSP00000408796.1","ENSEMBL:ENSP00000410062","ENSEMBL:ENSP00000410062.2","ENSEMBL:ENSP00000514494","ENSEMBL:ENSP00000514494.1"],"information_content":100.0}
{"id":"UniProtKB:Q8IVH8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitogen-activated protein kinase kinase kinase kinase 3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8IVH8-1","PR:Q8IVH8-1","ENSEMBL:ENSP00000263881","ENSEMBL:ENSP00000263881.3"],"information_content":100.0}
{"id":"UniProtKB:Q8IVI9-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nostrin isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q8IVI9-4","PR:Q8IVI9-4","ENSEMBL:ENSP00000394051","ENSEMBL:ENSP00000394051.2","ENSEMBL:ENSP00000402140","ENSEMBL:ENSP00000402140.2"],"information_content":100.0}
{"id":"UniProtKB:Q8IVL0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"neuron navigator 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVL0-1","PR:Q8IVL0-1","ENSEMBL:ENSP00000381007","ENSEMBL:ENSP00000381007.2"],"information_content":100.0}
{"id":"UniProtKB:Q8IVL1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"neuron navigator 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVL1-1","PR:Q8IVL1-1","ENSEMBL:ENSP00000379396","ENSEMBL:ENSP00000379396.3"],"information_content":100.0}
{"id":"UniProtKB:Q8IVL5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"prolyl 3-hydroxylase 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVL5-1","PR:Q8IVL5-1","ENSEMBL:ENSP00000316881","ENSEMBL:ENSP00000316881.5"],"information_content":100.0}
{"id":"UniProtKB:Q8IVL6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"prolyl 3-hydroxylase 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVL6-1","PR:Q8IVL6-1","ENSEMBL:ENSP00000478600","ENSEMBL:ENSP00000478600.1"],"information_content":100.0}
{"id":"UniProtKB:Q8IVM0-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coiled-coil domain-containing protein 50 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8IVM0-2","PR:Q8IVM0-2","ENSEMBL:ENSP00000376249","ENSEMBL:ENSP00000376249.4"],"information_content":100.0}
{"id":"UniProtKB:Q8IVM8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"organic anion transporter 7 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVM8-1","PR:Q8IVM8-1","ENSEMBL:ENSP00000279178","ENSEMBL:ENSP00000279178.3"],"information_content":100.0}
{"id":"UniProtKB:Q8IVS2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"malonyl-CoA-acyl carrier protein transacylase, mitochondrial isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVS2-1","PR:Q8IVS2-1","ENSEMBL:ENSP00000290429","ENSEMBL:ENSP00000290429.5"],"information_content":100.0}
{"id":"UniProtKB:Q8IVS8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glycerate kinase isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8IVS8-1","PR:Q8IVS8-1","ENSEMBL:ENSP00000389175","ENSEMBL:ENSP00000389175.2"],"information_content":100.0}
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{"id":"UniProtKB:Q8IVW1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ADP-ribosylation factor-like protein 17 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVW1-1","PR:Q8IVW1-1","ENSEMBL:ENSP00000337478","ENSEMBL:ENSP00000337478.6","ENSEMBL:ENSP00000404247","ENSEMBL:ENSP00000404247.4","ENSEMBL:ENSP00000481838","ENSEMBL:ENSP00000481838.1","ENSEMBL:ENSP00000483271","ENSEMBL:ENSP00000483271.1","ENSEMBL:ENSP00000516308","ENSEMBL:ENSP00000516308.1"],"information_content":100.0}
{"id":"UniProtKB:Q8IVW4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cyclin-dependent kinase-like 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVW4-1","PR:Q8IVW4-1","ENSEMBL:ENSP00000265334","ENSEMBL:ENSP00000265334.4"],"information_content":100.0}
{"id":"UniProtKB:Q8IVW6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"AT-rich interactive domain-containing protein 3B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IVW6-1","PR:Q8IVW6-1","ENSEMBL:ENSP00000477878","ENSEMBL:ENSP00000477878.1"],"information_content":100.0}
{"id":"UniProtKB:Q8IW00-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"V-set and transmembrane domain-containing protein 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IW00-1","PR:Q8IW00-1","ENSEMBL:ENSP00000331062","ENSEMBL:ENSP00000331062.3"],"information_content":100.0}
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{"id":"UniProtKB:Q8IW36-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 695 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q8IW36-4","PR:Q8IW36-4","ENSEMBL:ENSP00000341236","ENSEMBL:ENSP00000341236.7"],"information_content":100.0}
{"id":"UniProtKB:Q8IW40-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dynein axonemal assembly factor 19 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IW40-1","PR:Q8IW40-1","ENSEMBL:ENSP00000387252","ENSEMBL:ENSP00000387252.1","ENSEMBL:ENSP00000391692","ENSEMBL:ENSP00000391692.2"],"information_content":100.0}
{"id":"UniProtKB:Q8IW41-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"MAP kinase-activated protein kinase 5 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8IW41-1","PR:Q8IW41-1","ENSEMBL:ENSP00000449381","ENSEMBL:ENSP00000449381.2"],"information_content":100.0}
{"id":"UniProtKB:Q8IW45-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATP-dependent (S)-NAD(P)H-hydrate dehydratase isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8IW45-2","PR:Q8IW45-2","ENSEMBL:ENSP00000311984","ENSEMBL:ENSP00000311984.2"],"information_content":100.0}
{"id":"UniProtKB:Q8IW50-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein FAM219A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IW50-1","PR:Q8IW50-1","ENSEMBL:ENSP00000392452","ENSEMBL:ENSP00000392452.1","ENSEMBL:ENSP00000499069","ENSEMBL:ENSP00000499069.1"],"information_content":100.0}
{"id":"UniProtKB:Q8IW93-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Rho guanine nucleotide exchange factor 19 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IW93-1","PR:Q8IW93-1","ENSEMBL:ENSP00000270747","ENSEMBL:ENSP00000270747.3","ENSEMBL:ENSP00000516855","ENSEMBL:ENSP00000516855.1"],"information_content":100.0}
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{"id":"UniProtKB:Q8IX05-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"CD302 antigen isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8IX05-1","PR:Q8IX05-1","ENSEMBL:ENSP00000259053","ENSEMBL:ENSP00000259053.4"],"information_content":100.0}
{"id":"UniProtKB:Q8IX12-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cell division cycle and apoptosis regulator protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IX12-1","PR:Q8IX12-1","ENSEMBL:ENSP00000265872","ENSEMBL:ENSP00000265872.6"],"information_content":100.0}
{"id":"UniProtKB:Q8IX15-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"homeobox and leucine zipper protein Homez isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IX15-1","PR:Q8IX15-1","ENSEMBL:ENSP00000350049","ENSEMBL:ENSP00000350049.4"],"information_content":100.0}
{"id":"UniProtKB:Q8IX18-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"probable ATP-dependent RNA helicase DHX40 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8IX18-1","PR:Q8IX18-1","ENSEMBL:ENSP00000251241","ENSEMBL:ENSP00000251241.4"],"information_content":100.0}
{"id":"UniProtKB:Q8IX21-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SMC5-SMC6 complex localization factor protein 2 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8IX21-2","PR:Q8IX21-2","ENSEMBL:ENSP00000359292","ENSEMBL:ENSP00000359292.3"],"information_content":100.0}
{"id":"UniProtKB:Q8IX30-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"signal peptide, CUB and EGF-like domain-containing protein 3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8IX30-1","PR:Q8IX30-1","ENSEMBL:ENSP00000274938","ENSEMBL:ENSP00000274938.7"],"information_content":100.0}
{"id":"UniProtKB:Q8IX90-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"spindle and kinetochore-associated protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IX90-1","PR:Q8IX90-1","ENSEMBL:ENSP00000319417","ENSEMBL:ENSP00000319417.5"],"information_content":100.0}
{"id":"UniProtKB:Q8IXA5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sperm acrosome membrane-associated protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXA5-1","PR:Q8IXA5-1","ENSEMBL:ENSP00000269053","ENSEMBL:ENSP00000269053.3"],"information_content":100.0}
{"id":"UniProtKB:Q8IXB1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DnaJ homolog subfamily C member 10 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8IXB1-1","PR:Q8IXB1-1","ENSEMBL:ENSP00000264065","ENSEMBL:ENSP00000264065.6"],"information_content":100.0}
{"id":"UniProtKB:Q8IXF0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"neuronal PAS domain-containing protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXF0-1","PR:Q8IXF0-1","ENSEMBL:ENSP00000348460","ENSEMBL:ENSP00000348460.4"],"information_content":100.0}
{"id":"UniProtKB:Q8IXH8-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cadherin-like protein 26 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q8IXH8-4","PR:Q8IXH8-4","ENSEMBL:ENSP00000339390","ENSEMBL:ENSP00000339390.4"],"information_content":100.0}
{"id":"UniProtKB:Q8IXI1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitochondrial Rho GTPase 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXI1-1","PR:Q8IXI1-1","ENSEMBL:ENSP00000321971","ENSEMBL:ENSP00000321971.4"],"information_content":100.0}
{"id":"UniProtKB:Q8IXI2-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitochondrial Rho GTPase 1 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q8IXI2-3","PR:Q8IXI2-3","ENSEMBL:ENSP00000351132","ENSEMBL:ENSP00000351132.3"],"information_content":100.0}
{"id":"UniProtKB:Q8IXJ6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NAD-dependent protein deacetylase sirtuin-2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8IXJ6-1","PR:Q8IXJ6-1","ENSEMBL:ENSP00000249396","ENSEMBL:ENSP00000249396.7","ENSEMBL:ENSP00000489602","ENSEMBL:ENSP00000489602.1"],"information_content":100.0}
{"id":"UniProtKB:Q8IXJ9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Polycomb group protein ASXL1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXJ9-1","PR:Q8IXJ9-1","ENSEMBL:ENSP00000364839","ENSEMBL:ENSP00000364839.4"],"information_content":100.0}
{"id":"UniProtKB:Q8IXK0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"polyhomeotic-like protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXK0-1","PR:Q8IXK0-1","ENSEMBL:ENSP00000257118","ENSEMBL:ENSP00000257118.5"],"information_content":100.0}
{"id":"UniProtKB:Q8IXK2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"polypeptide N-acetylgalactosaminyltransferase 12 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXK2-1","PR:Q8IXK2-1","ENSEMBL:ENSP00000364150","ENSEMBL:ENSP00000364150.3"],"information_content":100.0}
{"id":"UniProtKB:Q8IXL6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"extracellular serine/threonine protein kinase FAM20C isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXL6-1","PR:Q8IXL6-1","ENSEMBL:ENSP00000322323","ENSEMBL:ENSP00000322323.5","ENSEMBL:ENSP00000499851","ENSEMBL:ENSP00000499851.1"],"information_content":100.0}
{"id":"UniProtKB:Q8IXL7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"methionine-R-sulfoxide reductase B3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXL7-1","PR:Q8IXL7-1","ENSEMBL:ENSP00000347324","ENSEMBL:ENSP00000347324.3"],"information_content":100.0}
{"id":"UniProtKB:Q8IXM6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nurim isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8IXM6-1","PR:Q8IXM6-1","ENSEMBL:ENSP00000259953","ENSEMBL:ENSP00000259953.4","ENSEMBL:ENSP00000365603","ENSEMBL:ENSP00000365603.5","ENSEMBL:ENSP00000373065","ENSEMBL:ENSP00000373065.2","ENSEMBL:ENSP00000397755","ENSEMBL:ENSP00000397755.1","ENSEMBL:ENSP00000398752","ENSEMBL:ENSP00000398752.1","ENSEMBL:ENSP00000405789","ENSEMBL:ENSP00000405789.1","ENSEMBL:ENSP00000409285","ENSEMBL:ENSP00000409285.1","ENSEMBL:ENSP00000414927","ENSEMBL:ENSP00000414927.1","ENSEMBL:ENSP00000478812","ENSEMBL:ENSP00000478812.1","ENSEMBL:ENSP00000481406","ENSEMBL:ENSP00000481406.1","ENSEMBL:ENSP00000481407","ENSEMBL:ENSP00000481407.1","ENSEMBL:ENSP00000482593","ENSEMBL:ENSP00000482593.1","ENSEMBL:ENSP00000482740","ENSEMBL:ENSP00000482740.1","ENSEMBL:ENSP00000483875","ENSEMBL:ENSP00000483875.1"],"information_content":100.0}
{"id":"UniProtKB:Q8IXQ4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GPALPP motifs-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXQ4-1","PR:Q8IXQ4-1","ENSEMBL:ENSP00000368447","ENSEMBL:ENSP00000368447.4","ENSEMBL:ENSP00000432500","ENSEMBL:ENSP00000432500.1"],"information_content":100.0}
{"id":"UniProtKB:Q8IXQ5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kelch-like protein 7 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8IXQ5-1","PR:Q8IXQ5-1","ENSEMBL:ENSP00000343273","ENSEMBL:ENSP00000343273.4"],"information_content":100.0}
{"id":"UniProtKB:Q8IXQ6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein mono-ADP-ribosyltransferase PARP9 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXQ6-1","PR:Q8IXQ6-1","ENSEMBL:ENSP00000353512","ENSEMBL:ENSP00000353512.2"],"information_content":100.0}
{"id":"UniProtKB:Q8IXQ8-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"PDZ domain-containing protein 9 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q8IXQ8-3","PR:Q8IXQ8-3","ENSEMBL:ENSP00000441685","ENSEMBL:ENSP00000441685.2"],"information_content":100.0}
{"id":"UniProtKB:Q8IXR9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"uncharacterized protein C12orf56 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXR9-1","PR:Q8IXR9-1","ENSEMBL:ENSP00000446101","ENSEMBL:ENSP00000446101.2"],"information_content":100.0}
{"id":"UniProtKB:Q8IXS2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dynein regulatory complex subunit 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXS2-1","PR:Q8IXS2-1","ENSEMBL:ENSP00000312706","ENSEMBL:ENSP00000312706.4"],"information_content":100.0}
{"id":"UniProtKB:Q8IXT2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"doublesex- and mab-3-related transcription factor C2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXT2-1","PR:Q8IXT2-1","ENSEMBL:ENSP00000269945","ENSEMBL:ENSP00000269945.2"],"information_content":100.0}
{"id":"UniProtKB:Q8IXU6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"solute carrier family 35 member F2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXU6-1","PR:Q8IXU6-1","ENSEMBL:ENSP00000436785","ENSEMBL:ENSP00000436785.1"],"information_content":100.0}
{"id":"UniProtKB:Q8IXW5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXW5-1","PR:Q8IXW5-1","ENSEMBL:ENSP00000476948","ENSEMBL:ENSP00000476948.1"],"information_content":100.0}
{"id":"UniProtKB:Q8IXX5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 183A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IXX5-1","PR:Q8IXX5-1","ENSEMBL:ENSP00000356211","ENSEMBL:ENSP00000356211.3"],"information_content":100.0}
{"id":"UniProtKB:Q8IXZ3-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transcription factor Sp8 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q8IXZ3-4","PR:Q8IXZ3-4","ENSEMBL:ENSP00000408792","ENSEMBL:ENSP00000408792.2"],"information_content":100.0}
{"id":"UniProtKB:Q8IY17-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"patatin-like phospholipase domain-containing protein 6 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q8IY17-4","PR:Q8IY17-4","ENSEMBL:ENSP00000407509","ENSEMBL:ENSP00000407509.2"],"information_content":100.0}
{"id":"UniProtKB:Q8IY22-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"C-Maf-inducing protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IY22-1","PR:Q8IY22-1","ENSEMBL:ENSP00000446100","ENSEMBL:ENSP00000446100.2"],"information_content":100.0}
{"id":"UniProtKB:Q8IY31-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"intraflagellar transport protein 20 homolog isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8IY31-2","PR:Q8IY31-2","ENSEMBL:ENSP00000464443","ENSEMBL:ENSP00000464443.1"],"information_content":100.0}
{"id":"UniProtKB:Q8IY33-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"MICAL-like protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IY33-1","PR:Q8IY33-1","ENSEMBL:ENSP00000297508","ENSEMBL:ENSP00000297508.7"],"information_content":100.0}
{"id":"UniProtKB:Q8IY45-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein AMN1 homolog isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8IY45-1","PR:Q8IY45-1","ENSEMBL:ENSP00000281471","ENSEMBL:ENSP00000281471.6"],"information_content":100.0}
{"id":"UniProtKB:Q8IY49-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"monocyte to macrophage differentiation factor 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8IY49-1","PR:Q8IY49-1","ENSEMBL:ENSP00000384690","ENSEMBL:ENSP00000384690.3"],"information_content":100.0}
{"id":"UniProtKB:Q8IY50-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"solute carrier family 35 member F3 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8IY50-2","PR:Q8IY50-2","ENSEMBL:ENSP00000355577","ENSEMBL:ENSP00000355577.3"],"information_content":100.0}
{"id":"UniProtKB:Q8IY57-5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"YY1-associated factor 2 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8IY57-5","PR:Q8IY57-5","ENSEMBL:ENSP00000328004","ENSEMBL:ENSP00000328004.5"],"information_content":100.0}
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{"id":"UniProtKB:Q8N205-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nesprin-4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8N205-1","PR:Q8N205-1","ENSEMBL:ENSP00000316130","ENSEMBL:ENSP00000316130.3"],"information_content":100.0}
{"id":"UniProtKB:Q8N228-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sex comb on midleg-like protein 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8N228-1","PR:Q8N228-1","ENSEMBL:ENSP00000358016","ENSEMBL:ENSP00000358016.3"],"information_content":100.0}
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{"id":"UniProtKB:Q8N283-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ankyrin repeat domain-containing protein 35 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8N283-1","PR:Q8N283-1","ENSEMBL:ENSP00000347802","ENSEMBL:ENSP00000347802.4"],"information_content":100.0}
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{"id":"UniProtKB:Q8NCR3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein MFI isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NCR3-1","PR:Q8NCR3-1","ENSEMBL:ENSP00000376799","ENSEMBL:ENSP00000376799.1","ENSEMBL:ENSP00000431706","ENSEMBL:ENSP00000431706.1","ENSEMBL:ENSP00000436400","ENSEMBL:ENSP00000436400.1","ENSEMBL:ENSP00000483537","ENSEMBL:ENSP00000483537.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NCR9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"clarin-3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8NCR9-1","PR:Q8NCR9-1","ENSEMBL:ENSP00000357660","ENSEMBL:ENSP00000357660.3"],"information_content":100.0}
{"id":"UniProtKB:Q8NCS7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"choline transporter-like protein 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NCS7-1","PR:Q8NCS7-1","ENSEMBL:ENSP00000359892","ENSEMBL:ENSP00000359892.5"],"information_content":100.0}
{"id":"UniProtKB:Q8NCU4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coiled-coil domain-containing protein 191 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NCU4-1","PR:Q8NCU4-1","ENSEMBL:ENSP00000295878","ENSEMBL:ENSP00000295878.3"],"information_content":100.0}
{"id":"UniProtKB:Q8NCV1-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"adenosine deaminase domain-containing protein 2 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8NCV1-2","PR:Q8NCV1-2","ENSEMBL:ENSP00000268624","ENSEMBL:ENSP00000268624.3"],"information_content":100.0}
{"id":"UniProtKB:Q8NCW0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Kremen protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NCW0-1","PR:Q8NCW0-1","ENSEMBL:ENSP00000304422","ENSEMBL:ENSP00000304422.5"],"information_content":100.0}
{"id":"UniProtKB:Q8NCW5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NAD(P)H-hydrate epimerase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NCW5-1","PR:Q8NCW5-1","ENSEMBL:ENSP00000357218","ENSEMBL:ENSP00000357218.3","ENSEMBL:ENSP00000505349","ENSEMBL:ENSP00000505349.1","ENSEMBL:ENSP00000505899","ENSEMBL:ENSP00000505899.1","ENSEMBL:ENSP00000505913","ENSEMBL:ENSP00000505913.1","ENSEMBL:ENSP00000506192","ENSEMBL:ENSP00000506192.1","ENSEMBL:ENSP00000506275","ENSEMBL:ENSP00000506275.1"],"information_content":95.4}
{"id":"UniProtKB:Q8NCW6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"polypeptide N-acetylgalactosaminyltransferase 11 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8NCW6-1","PR:Q8NCW6-1","ENSEMBL:ENSP00000395122","ENSEMBL:ENSP00000395122.2","ENSEMBL:ENSP00000416787","ENSEMBL:ENSP00000416787.1"],"information_content":100.0}
{"id":"UniProtKB:Q8ND04-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nonsense-mediated mRNA decay factor SMG8 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8ND04-1","PR:Q8ND04-1","ENSEMBL:ENSP00000300917","ENSEMBL:ENSP00000300917.4","ENSEMBL:ENSP00000438748","ENSEMBL:ENSP00000438748.2"],"information_content":100.0}
{"id":"UniProtKB:Q8ND23-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"capping protein, Arp2/3 and myosin-I linker protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8ND23-1","PR:Q8ND23-1","ENSEMBL:ENSP00000340467","ENSEMBL:ENSP00000340467.5","ENSEMBL:ENSP00000493710","ENSEMBL:ENSP00000493710.1"],"information_content":100.0}
{"id":"UniProtKB:Q8ND24-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RING finger protein 214 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8ND24-1","PR:Q8ND24-1","ENSEMBL:ENSP00000300650","ENSEMBL:ENSP00000300650.4","ENSEMBL:ENSP00000431643","ENSEMBL:ENSP00000431643.1"],"information_content":100.0}
{"id":"UniProtKB:Q8ND25-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase ZNRF1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8ND25-1","PR:Q8ND25-1","ENSEMBL:ENSP00000335091","ENSEMBL:ENSP00000335091.4","ENSEMBL:ENSP00000455601","ENSEMBL:ENSP00000455601.1"],"information_content":100.0}
{"id":"UniProtKB:Q8ND30-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"liprin-beta-2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8ND30-1","PR:Q8ND30-1","ENSEMBL:ENSP00000299492","ENSEMBL:ENSP00000299492.4"],"information_content":100.0}
{"id":"UniProtKB:Q8ND56-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein LSM14 homolog A isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8ND56-2","PR:Q8ND56-2","ENSEMBL:ENSP00000446271","ENSEMBL:ENSP00000446271.2","ENSEMBL:ENSP00000461225","ENSEMBL:ENSP00000461225.1"],"information_content":100.0}
{"id":"UniProtKB:Q8ND61-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"uncharacterized protein C3orf20 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8ND61-1","PR:Q8ND61-1","ENSEMBL:ENSP00000253697","ENSEMBL:ENSP00000253697.3"],"information_content":100.0}
{"id":"UniProtKB:Q8ND76-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cyclin-Y isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8ND76-1","PR:Q8ND76-1","ENSEMBL:ENSP00000363836","ENSEMBL:ENSP00000363836.4"],"information_content":100.0}
{"id":"UniProtKB:Q8NDA2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"hemicentin-2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDA2-1","PR:Q8NDA2-1","ENSEMBL:ENSP00000485357","ENSEMBL:ENSP00000485357.2"],"information_content":100.0}
{"id":"UniProtKB:Q8NDB2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"B-cell scaffold protein with ankyrin repeats isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDB2-1","PR:Q8NDB2-1","ENSEMBL:ENSP00000320509","ENSEMBL:ENSP00000320509.4"],"information_content":100.0}
{"id":"UniProtKB:Q8NDC4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"MORN repeat-containing protein 4 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8NDC4-1","PR:Q8NDC4-1","ENSEMBL:ENSP00000307636","ENSEMBL:ENSP00000307636.6"],"information_content":100.0}
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{"id":"UniProtKB:Q8NDG6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATP-dependent RNA helicase TDRD9 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDG6-1","PR:Q8NDG6-1","ENSEMBL:ENSP00000387303","ENSEMBL:ENSP00000387303.4"],"information_content":100.0}
{"id":"UniProtKB:Q8NDH3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"probable aminopeptidase NPEPL1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDH3-1","PR:Q8NDH3-1","ENSEMBL:ENSP00000348395","ENSEMBL:ENSP00000348395.6"],"information_content":100.0}
{"id":"UniProtKB:Q8NDH6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"islet cell autoantigen 1-like protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDH6-1","PR:Q8NDH6-1","ENSEMBL:ENSP00000351047","ENSEMBL:ENSP00000351047.2","ENSEMBL:ENSP00000376070","ENSEMBL:ENSP00000376070.2","ENSEMBL:ENSP00000478645","ENSEMBL:ENSP00000478645.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NDI1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"EH domain-binding protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDI1-1","PR:Q8NDI1-1","ENSEMBL:ENSP00000263991","ENSEMBL:ENSP00000263991.5"],"information_content":100.0}
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{"id":"UniProtKB:Q8NDM7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cilia- and flagella-associated protein 43 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDM7-1","PR:Q8NDM7-1","ENSEMBL:ENSP00000349568","ENSEMBL:ENSP00000349568.3"],"information_content":100.0}
{"id":"UniProtKB:Q8NDN9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RCC1 and BTB domain-containing protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8NDN9-1","PR:Q8NDN9-1","ENSEMBL:ENSP00000258646","ENSEMBL:ENSP00000258646.3","ENSEMBL:ENSP00000367552","ENSEMBL:ENSP00000367552.2"],"information_content":100.0}
{"id":"UniProtKB:Q8NDQ6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 540 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDQ6-1","PR:Q8NDQ6-1","ENSEMBL:ENSP00000324598","ENSEMBL:ENSP00000324598.3","ENSEMBL:ENSP00000343768","ENSEMBL:ENSP00000343768.5","ENSEMBL:ENSP00000466274","ENSEMBL:ENSP00000466274.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NDT2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"putative RNA-binding protein 15B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDT2-1","PR:Q8NDT2-1","ENSEMBL:ENSP00000454545","ENSEMBL:ENSP00000454545.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NDV1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8NDV1-1","PR:Q8NDV1-1","ENSEMBL:ENSP00000329214","ENSEMBL:ENSP00000329214.3"],"information_content":100.0}
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{"id":"UniProtKB:Q8NDV7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"trinucleotide repeat-containing gene 6A protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDV7-1","PR:Q8NDV7-1","ENSEMBL:ENSP00000379144","ENSEMBL:ENSP00000379144.3"],"information_content":100.0}
{"id":"UniProtKB:Q8NDW8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tetratricopeptide repeat protein 21A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDW8-1","PR:Q8NDW8-1","ENSEMBL:ENSP00000398211","ENSEMBL:ENSP00000398211.2"],"information_content":100.0}
{"id":"UniProtKB:Q8NDX2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"vesicular glutamate transporter 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDX2-1","PR:Q8NDX2-1","ENSEMBL:ENSP00000316909","ENSEMBL:ENSP00000316909.4"],"information_content":100.0}
{"id":"UniProtKB:Q8NDX5-7","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"polyhomeotic-like protein 3 isoform h7 (human)","equivalent_identifiers":["UniProtKB:Q8NDX5-7","PR:Q8NDX5-7","ENSEMBL:ENSP00000420294","ENSEMBL:ENSP00000420294.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NDX9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lymphocyte antigen 6 complex locus protein G5b isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDX9-1","PR:Q8NDX9-1","ENSEMBL:ENSP00000365024","ENSEMBL:ENSP00000365024.4","ENSEMBL:ENSP00000417055","ENSEMBL:ENSP00000417055.1","ENSEMBL:ENSP00000417822","ENSEMBL:ENSP00000417822.1","ENSEMBL:ENSP00000418119","ENSEMBL:ENSP00000418119.1","ENSEMBL:ENSP00000420698","ENSEMBL:ENSP00000420698.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NDY3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"inactive ADP-ribosyltransferase ARH2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDY3-1","PR:Q8NDY3-1","ENSEMBL:ENSP00000364567","ENSEMBL:ENSP00000364567.3"],"information_content":100.0}
{"id":"UniProtKB:Q8NDY8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 52 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDY8-1","PR:Q8NDY8-1","ENSEMBL:ENSP00000311122","ENSEMBL:ENSP00000311122.3"],"information_content":100.0}
{"id":"UniProtKB:Q8NDZ0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"BEN domain-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NDZ0-1","PR:Q8NDZ0-1","ENSEMBL:ENSP00000369372","ENSEMBL:ENSP00000369372.4"],"information_content":100.0}
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{"id":"UniProtKB:Q8NG08-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DNA helicase B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NG08-1","PR:Q8NG08-1","ENSEMBL:ENSP00000247815","ENSEMBL:ENSP00000247815.5","ENSEMBL:ENSP00000443287","ENSEMBL:ENSP00000443287.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NG11-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tetraspanin-14 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8NG11-1","PR:Q8NG11-1","ENSEMBL:ENSP00000361229","ENSEMBL:ENSP00000361229.1","ENSEMBL:ENSP00000361231","ENSEMBL:ENSP00000361231.1","ENSEMBL:ENSP00000396270","ENSEMBL:ENSP00000396270.2","ENSEMBL:ENSP00000519706","ENSEMBL:ENSP00000519706.1","ENSEMBL:ENSP00000519709","ENSEMBL:ENSP00000519709.1","ENSEMBL:ENSP00000519710","ENSEMBL:ENSP00000519710.1","ENSEMBL:ENSP00000519711","ENSEMBL:ENSP00000519711.1","ENSEMBL:ENSP00000519712","ENSEMBL:ENSP00000519712.1","ENSEMBL:ENSP00000519713","ENSEMBL:ENSP00000519713.1","ENSEMBL:ENSP00000519714","ENSEMBL:ENSP00000519714.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NG27-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase Praja-1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NG27-1","PR:Q8NG27-1","ENSEMBL:ENSP00000355014","ENSEMBL:ENSP00000355014.1","ENSEMBL:ENSP00000363711","ENSEMBL:ENSP00000363711.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NG31-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"outer kinetochore KNL1 complex subunit KNL1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8NG31-1","PR:Q8NG31-1","ENSEMBL:ENSP00000335463","ENSEMBL:ENSP00000335463.6"],"information_content":100.0}
{"id":"UniProtKB:Q8NG35","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"D105A_HUMAN Beta-defensin 105 (sprot)","equivalent_identifiers":["UniProtKB:Q8NG35","PR:Q8NG35","ENSEMBL:ENSP00000334330","ENSEMBL:ENSP00000334330.6","ENSEMBL:ENSP00000335281","ENSEMBL:ENSP00000335281.6","ENSEMBL:ENSP00000482176","ENSEMBL:ENSP00000482176.1","ENSEMBL:ENSP00000495658","ENSEMBL:ENSP00000495658.1","ENSEMBL:ENSP00000496561","ENSEMBL:ENSP00000496561.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NG48-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein Lines homolog 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NG48-1","PR:Q8NG48-1","ENSEMBL:ENSP00000318423","ENSEMBL:ENSP00000318423.8"],"information_content":100.0}
{"id":"UniProtKB:Q8NG50-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RAD52 motif-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NG50-1","PR:Q8NG50-1","ENSEMBL:ENSP00000481061","ENSEMBL:ENSP00000481061.1","ENSEMBL:ENSP00000483549","ENSEMBL:ENSP00000483549.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NG66-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine/threonine-protein kinase Nek11 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NG66-1","PR:Q8NG66-1","ENSEMBL:ENSP00000372857","ENSEMBL:ENSP00000372857.4","ENSEMBL:ENSP00000421851","ENSEMBL:ENSP00000421851.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NHH1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tubulin polyglutamylase TTLL11 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NHH1-1","PR:Q8NHH1-1","ENSEMBL:ENSP00000321346","ENSEMBL:ENSP00000321346.6"],"information_content":100.0}
{"id":"UniProtKB:Q8NHH9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"atlastin-2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8NHH9-1","PR:Q8NHH9-1","ENSEMBL:ENSP00000368237","ENSEMBL:ENSP00000368237.4"],"information_content":100.0}
{"id":"UniProtKB:Q8NHM5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lysine-specific demethylase 2B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NHM5-1","PR:Q8NHM5-1","ENSEMBL:ENSP00000366271","ENSEMBL:ENSP00000366271.3"],"information_content":100.0}
{"id":"UniProtKB:Q8NHP6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"motile sperm domain-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NHP6-1","PR:Q8NHP6-1","ENSEMBL:ENSP00000369860","ENSEMBL:ENSP00000369860.3"],"information_content":100.0}
{"id":"UniProtKB:Q8NHP7-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"piRNA biogenesis protein EXD1 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q8NHP7-3","PR:Q8NHP7-3","ENSEMBL:ENSP00000415056","ENSEMBL:ENSP00000415056.2"],"information_content":100.0}
{"id":"UniProtKB:Q8NHP8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"putative phospholipase B-like 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NHP8-1","PR:Q8NHP8-1","ENSEMBL:ENSP00000280800","ENSEMBL:ENSP00000280800.3"],"information_content":100.0}
{"id":"UniProtKB:Q8NHQ1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centrosomal protein of 70 kDa isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NHQ1-1","PR:Q8NHQ1-1","ENSEMBL:ENSP00000264982","ENSEMBL:ENSP00000264982.3","ENSEMBL:ENSP00000419231","ENSEMBL:ENSP00000419231.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NHQ8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ras association domain-containing protein 8 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8NHQ8-1","PR:Q8NHQ8-1","ENSEMBL:ENSP00000282884","ENSEMBL:ENSP00000282884.9","ENSEMBL:ENSP00000384491","ENSEMBL:ENSP00000384491.1","ENSEMBL:ENSP00000439839","ENSEMBL:ENSP00000439839.1","ENSEMBL:ENSP00000443096","ENSEMBL:ENSP00000443096.1","ENSEMBL:ENSP00000509001","ENSEMBL:ENSP00000509001.1","ENSEMBL:ENSP00000509645","ENSEMBL:ENSP00000509645.1","ENSEMBL:ENSP00000510086","ENSEMBL:ENSP00000510086.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NHS3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"major facilitator superfamily domain-containing protein 8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NHS3-1","PR:Q8NHS3-1","ENSEMBL:ENSP00000296468","ENSEMBL:ENSP00000296468.3","ENSEMBL:ENSP00000493218","ENSEMBL:ENSP00000493218.2","ENSEMBL:ENSP00000493279","ENSEMBL:ENSP00000493279.1","ENSEMBL:ENSP00000493330","ENSEMBL:ENSP00000493330.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NHS9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"spermatogenesis-associated protein 22 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NHS9-1","PR:Q8NHS9-1","ENSEMBL:ENSP00000380354","ENSEMBL:ENSP00000380354.3","ENSEMBL:ENSP00000459329","ENSEMBL:ENSP00000459329.1","ENSEMBL:ENSP00000459580","ENSEMBL:ENSP00000459580.1","ENSEMBL:ENSP00000460187","ENSEMBL:ENSP00000460187.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NHU2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cilia- and flagella-associated protein 61 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NHU2-1","PR:Q8NHU2-1","ENSEMBL:ENSP00000245957","ENSEMBL:ENSP00000245957.5"],"information_content":100.0}
{"id":"UniProtKB:Q8NHU6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tudor domain-containing protein 7 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NHU6-1","PR:Q8NHU6-1","ENSEMBL:ENSP00000347444","ENSEMBL:ENSP00000347444.4"],"information_content":100.0}
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{"id":"UniProtKB:Q8NHY0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"beta-1,4 N-acetylgalactosaminyltransferase 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NHY0-1","PR:Q8NHY0-1","ENSEMBL:ENSP00000300404","ENSEMBL:ENSP00000300404.2"],"information_content":100.0}
{"id":"UniProtKB:Q8NHY2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase COP1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8NHY2-1","PR:Q8NHY2-1","ENSEMBL:ENSP00000356641","ENSEMBL:ENSP00000356641.3"],"information_content":100.0}
{"id":"UniProtKB:Q8NHY3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GAS2-like protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NHY3-1","PR:Q8NHY3-1","ENSEMBL:ENSP00000474529","ENSEMBL:ENSP00000474529.2"],"information_content":100.0}
{"id":"UniProtKB:Q8NHY6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 28 homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NHY6-1","PR:Q8NHY6-1","ENSEMBL:ENSP00000301318","ENSEMBL:ENSP00000301318.3"],"information_content":100.0}
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{"id":"UniProtKB:Q8NI22-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"multiple coagulation factor deficiency protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NI22-1","PR:Q8NI22-1","ENSEMBL:ENSP00000317271","ENSEMBL:ENSP00000317271.4","ENSEMBL:ENSP00000386261","ENSEMBL:ENSP00000386261.1","ENSEMBL:ENSP00000386279","ENSEMBL:ENSP00000386279.1","ENSEMBL:ENSP00000386386","ENSEMBL:ENSP00000386386.1","ENSEMBL:ENSP00000386651","ENSEMBL:ENSP00000386651.1","ENSEMBL:ENSP00000402717","ENSEMBL:ENSP00000402717.1"],"information_content":100.0}
{"id":"UniProtKB:Q8NI27-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"THO complex subunit 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8NI27-1","PR:Q8NI27-1","ENSEMBL:ENSP00000245838","ENSEMBL:ENSP00000245838.8","ENSEMBL:ENSP00000347959","ENSEMBL:ENSP00000347959.4"],"information_content":100.0}
{"id":"UniProtKB:Q8NI32-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ly6/PLAUR domain-containing protein 6B isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8NI32-2","PR:Q8NI32-2","ENSEMBL:ENSP00000387077","ENSEMBL:ENSP00000387077.3"],"information_content":100.0}
{"id":"UniProtKB:Q8NI51-7","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transcriptional repressor CTCFL isoform h7 (human)","equivalent_identifiers":["UniProtKB:Q8NI51-7","PR:Q8NI51-7","ENSEMBL:ENSP00000415579","ENSEMBL:ENSP00000415579.2"],"information_content":100.0}
{"id":"UniProtKB:Q8TAA3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"proteasome subunit alpha-type 8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TAA3-1","PR:Q8TAA3-1","ENSEMBL:ENSP00000311121","ENSEMBL:ENSP00000311121.6"],"information_content":100.0}
{"id":"UniProtKB:Q8TAA5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GrpE protein homolog 2, mitochondrial isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TAA5-1","PR:Q8TAA5-1","ENSEMBL:ENSP00000329558","ENSEMBL:ENSP00000329558.3"],"information_content":100.0}
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{"id":"UniProtKB:Q8TAB3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protocadherin-19 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TAB3-1","PR:Q8TAB3-1","ENSEMBL:ENSP00000362125","ENSEMBL:ENSP00000362125.4"],"information_content":100.0}
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{"id":"UniProtKB:Q8TBG9-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"synaptoporin isoform 2 (human)","equivalent_identifiers":["UniProtKB:Q8TBG9-2","PR:Q8TBG9-2","ENSEMBL:ENSP00000418994","ENSEMBL:ENSP00000418994.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TBH0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"arrestin domain-containing protein 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8TBH0-1","PR:Q8TBH0-1","ENSEMBL:ENSP00000222250","ENSEMBL:ENSP00000222250.3"],"information_content":100.0}
{"id":"UniProtKB:Q8TBJ5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"fez family zinc finger protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TBJ5-1","PR:Q8TBJ5-1","ENSEMBL:ENSP00000283268","ENSEMBL:ENSP00000283268.3","ENSEMBL:ENSP00000418589","ENSEMBL:ENSP00000418589.1","ENSEMBL:ENSP00000418804","ENSEMBL:ENSP00000418804.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TBK2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"N-lysine methyltransferase SETD6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TBK2-1","PR:Q8TBK2-1","ENSEMBL:ENSP00000219315","ENSEMBL:ENSP00000219315.5"],"information_content":100.0}
{"id":"UniProtKB:Q8TBN0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"guanine nucleotide exchange factor for Rab-3A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TBN0-1","PR:Q8TBN0-1","ENSEMBL:ENSP00000378313","ENSEMBL:ENSP00000378313.2"],"information_content":100.0}
{"id":"UniProtKB:Q8TBP0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"TBC1 domain family member 16 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TBP0-1","PR:Q8TBP0-1","ENSEMBL:ENSP00000309794","ENSEMBL:ENSP00000309794.2"],"information_content":100.0}
{"id":"UniProtKB:Q8TBX8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8TBX8-1","PR:Q8TBX8-1","ENSEMBL:ENSP00000347032","ENSEMBL:ENSP00000347032.5","ENSEMBL:ENSP00000439878","ENSEMBL:ENSP00000439878.2"],"information_content":100.0}
{"id":"UniProtKB:Q8TBY0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"probable RNA-binding protein 46 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8TBY0-1","PR:Q8TBY0-1","ENSEMBL:ENSP00000281722","ENSEMBL:ENSP00000281722.3"],"information_content":100.0}
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{"id":"UniProtKB:Q8TC26-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 163 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TC26-1","PR:Q8TC26-1","ENSEMBL:ENSP00000281924","ENSEMBL:ENSP00000281924.6"],"information_content":100.0}
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{"id":"UniProtKB:Q8TCT6-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"signal peptide peptidase-like 3 isoform 2 (human)","equivalent_identifiers":["UniProtKB:Q8TCT6-2","PR:Q8TCT6-2","ENSEMBL:ENSP00000288680","ENSEMBL:ENSP00000288680.4"],"information_content":100.0}
{"id":"UniProtKB:Q8TCT7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"signal peptide peptidase-like 2B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TCT7-1","PR:Q8TCT7-1","ENSEMBL:ENSP00000478298","ENSEMBL:ENSP00000478298.1"],"information_content":100.0}
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{"id":"UniProtKB:Q8TCU4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centrosome-associated protein ALMS1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TCU4-1","PR:Q8TCU4-1","ENSEMBL:ENSP00000482968","ENSEMBL:ENSP00000482968.1"],"information_content":100.0}
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{"id":"UniProtKB:Q8TD10-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mirror-image polydactyly gene 1 protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TD10-1","PR:Q8TD10-1","ENSEMBL:ENSP00000333539","ENSEMBL:ENSP00000333539.7","ENSEMBL:ENSP00000379589","ENSEMBL:ENSP00000379589.2","ENSEMBL:ENSP00000506738","ENSEMBL:ENSP00000506738.1","ENSEMBL:ENSP00000513762","ENSEMBL:ENSP00000513762.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TD16-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein bicaudal D homolog 2 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8TD16-2","PR:Q8TD16-2","ENSEMBL:ENSP00000349351","ENSEMBL:ENSP00000349351.6"],"information_content":100.0}
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{"id":"UniProtKB:Q8TDL5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"BPI fold-containing family B member 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TDL5-1","PR:Q8TDL5-1","ENSEMBL:ENSP00000253354","ENSEMBL:ENSP00000253354.1"],"information_content":100.0}
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{"id":"UniProtKB:Q8TDN1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"voltage-gated potassium channel regulatory subunit KCNG4 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8TDN1-1","PR:Q8TDN1-1","ENSEMBL:ENSP00000312129","ENSEMBL:ENSP00000312129.4"],"information_content":100.0}
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{"id":"UniProtKB:Q8TDQ7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glucosamine-6-phosphate deaminase 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8TDQ7-1","PR:Q8TDQ7-1","ENSEMBL:ENSP00000295448","ENSEMBL:ENSP00000295448.3"],"information_content":100.0}
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{"id":"UniProtKB:Q8TDW4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"suppressor of tumorigenicity 7 protein-like isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TDW4-1","PR:Q8TDW4-1","ENSEMBL:ENSP00000350734","ENSEMBL:ENSP00000350734.4"],"information_content":100.0}
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{"id":"UniProtKB:Q8TDW7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protocadherin Fat 3 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q8TDW7-1","PR:Q8TDW7-1","ENSEMBL:ENSP00000432586","ENSEMBL:ENSP00000432586.2"],"information_content":100.0}
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{"id":"UniProtKB:Q8TDX9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"polycystin-1-like protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TDX9-1","PR:Q8TDX9-1","ENSEMBL:ENSP00000289672","ENSEMBL:ENSP00000289672.2"],"information_content":100.0}
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{"id":"UniProtKB:Q8TDY4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TDY4-1","PR:Q8TDY4-1","ENSEMBL:ENSP00000338769","ENSEMBL:ENSP00000338769.3","ENSEMBL:ENSP00000488946","ENSEMBL:ENSP00000488946.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TDZ2-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"[F-actin]-monooxygenase MICAL1 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q8TDZ2-4","PR:Q8TDZ2-4","ENSEMBL:ENSP00000486901","ENSEMBL:ENSP00000486901.1"],"information_content":100.0}
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{"id":"UniProtKB:Q8TED9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"actin filament-associated protein 1-like 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TED9-1","PR:Q8TED9-1","ENSEMBL:ENSP00000296721","ENSEMBL:ENSP00000296721.4"],"information_content":100.0}
{"id":"UniProtKB:Q8TEH3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DENN domain-containing protein 1A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TEH3-1","PR:Q8TEH3-1","ENSEMBL:ENSP00000362727","ENSEMBL:ENSP00000362727.2"],"information_content":100.0}
{"id":"UniProtKB:Q8TEK3-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"histone-lysine N-methyltransferase, H3 lysine-79 specific isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TEK3-2","PR:Q8TEK3-2","ENSEMBL:ENSP00000381657","ENSEMBL:ENSP00000381657.3"],"information_content":100.0}
{"id":"UniProtKB:Q8TEM1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nuclear pore membrane glycoprotein 210 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TEM1-1","PR:Q8TEM1-1","ENSEMBL:ENSP00000254508","ENSEMBL:ENSP00000254508.5"],"information_content":100.0}
{"id":"UniProtKB:Q8TEP8-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centrosomal protein of 192 kDa isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q8TEP8-3","PR:Q8TEP8-3","ENSEMBL:ENSP00000427550","ENSEMBL:ENSP00000427550.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TEQ8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GPI ethanolamine phosphate transferase 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TEQ8-1","PR:Q8TEQ8-1","ENSEMBL:ENSP00000367880","ENSEMBL:ENSP00000367880.3","ENSEMBL:ENSP00000514894","ENSEMBL:ENSP00000514894.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TER0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sushi, nidogen and EGF-like domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TER0-1","PR:Q8TER0-1","ENSEMBL:ENSP00000308893","ENSEMBL:ENSP00000308893.8"],"information_content":100.0}
{"id":"UniProtKB:Q8TES7-6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Fas-binding factor 1 isoform h6 (human)","equivalent_identifiers":["UniProtKB:Q8TES7-6","PR:Q8TES7-6","ENSEMBL:ENSP00000490726","ENSEMBL:ENSP00000490726.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TEU7-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Rap guanine nucleotide exchange factor 6 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q8TEU7-4","PR:Q8TEU7-4","ENSEMBL:ENSP00000296859","ENSEMBL:ENSP00000296859.6"],"information_content":100.0}
{"id":"UniProtKB:Q8TEV9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"guanine nucleotide exchange protein SMCR8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TEV9-1","PR:Q8TEV9-1","ENSEMBL:ENSP00000385025","ENSEMBL:ENSP00000385025.3","ENSEMBL:ENSP00000492062","ENSEMBL:ENSP00000492062.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TEW0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"partitioning defective 3 homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TEW0-1","PR:Q8TEW0-1","ENSEMBL:ENSP00000363921","ENSEMBL:ENSP00000363921.3"],"information_content":100.0}
{"id":"UniProtKB:Q8TEW8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"partitioning defective 3 homolog B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TEW8-1","PR:Q8TEW8-1","ENSEMBL:ENSP00000385848","ENSEMBL:ENSP00000385848.2"],"information_content":100.0}
{"id":"UniProtKB:Q8TEX9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"importin-4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TEX9-1","PR:Q8TEX9-1","ENSEMBL:ENSP00000346453","ENSEMBL:ENSP00000346453.6","ENSEMBL:ENSP00000494795","ENSEMBL:ENSP00000494795.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TEY5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cyclic AMP-responsive element-binding protein 3-like protein 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TEY5-1","PR:Q8TEY5-1","ENSEMBL:ENSP00000271889","ENSEMBL:ENSP00000271889.4","ENSEMBL:ENSP00000357592","ENSEMBL:ENSP00000357592.1","ENSEMBL:ENSP00000357596","ENSEMBL:ENSP00000357596.3"],"information_content":100.0}
{"id":"UniProtKB:Q8TEY7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin carboxyl-terminal hydrolase 33 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TEY7-1","PR:Q8TEY7-1","ENSEMBL:ENSP00000350009","ENSEMBL:ENSP00000350009.1","ENSEMBL:ENSP00000359829","ENSEMBL:ENSP00000359829.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TF01-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"arginine/serine-rich protein PNISR isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8TF01-1","PR:Q8TF01-1","ENSEMBL:ENSP00000358242","ENSEMBL:ENSP00000358242.5","ENSEMBL:ENSP00000387997","ENSEMBL:ENSP00000387997.1","ENSEMBL:ENSP00000496842","ENSEMBL:ENSP00000496842.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TF05-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TF05-1","PR:Q8TF05-1","ENSEMBL:ENSP00000383402","ENSEMBL:ENSP00000383402.3"],"information_content":100.0}
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{"id":"UniProtKB:Q8TF20-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 721 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8TF20-2","PR:Q8TF20-2","ENSEMBL:ENSP00000428878","ENSEMBL:ENSP00000428878.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TF21-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ankyrin repeat domain-containing protein 24 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TF21-1","PR:Q8TF21-1","ENSEMBL:ENSP00000321731","ENSEMBL:ENSP00000321731.4","ENSEMBL:ENSP00000471252","ENSEMBL:ENSP00000471252.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TF40-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"folliculin-interacting protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TF40-1","PR:Q8TF40-1","ENSEMBL:ENSP00000421985","ENSEMBL:ENSP00000421985.1"],"information_content":100.0}
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{"id":"UniProtKB:Q8TF47-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 90 homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TF47-1","PR:Q8TF47-1","ENSEMBL:ENSP00000381304","ENSEMBL:ENSP00000381304.2","ENSEMBL:ENSP00000454418","ENSEMBL:ENSP00000454418.2","ENSEMBL:ENSP00000460547","ENSEMBL:ENSP00000460547.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TF66-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine-rich repeat-containing protein 15 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8TF66-2","PR:Q8TF66-2","ENSEMBL:ENSP00000413707","ENSEMBL:ENSP00000413707.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TF68-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 384 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TF68-1","PR:Q8TF68-1","ENSEMBL:ENSP00000354592","ENSEMBL:ENSP00000354592.3","ENSEMBL:ENSP00000380019","ENSEMBL:ENSP00000380019.3"],"information_content":100.0}
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{"id":"UniProtKB:Q8TF74-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"WAS/WASL-interacting protein family member 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8TF74-1","PR:Q8TF74-1","ENSEMBL:ENSP00000320924","ENSEMBL:ENSP00000320924.4","ENSEMBL:ENSP00000462350","ENSEMBL:ENSP00000462350.1","ENSEMBL:ENSP00000462826","ENSEMBL:ENSP00000462826.1"],"information_content":100.0}
{"id":"UniProtKB:Q8TF76-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine/threonine-protein kinase haspin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8TF76-1","PR:Q8TF76-1","ENSEMBL:ENSP00000325290","ENSEMBL:ENSP00000325290.4"],"information_content":100.0}
{"id":"UniProtKB:Q8WTP8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"apoptosis-enhancing nuclease isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8WTP8-1","PR:Q8WTP8-1","ENSEMBL:ENSP00000331944","ENSEMBL:ENSP00000331944.3"],"information_content":100.0}
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{"id":"UniProtKB:Q8WTR4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glycerophosphodiester phosphodiesterase domain-containing protein 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8WTR4-1","PR:Q8WTR4-1","ENSEMBL:ENSP00000337972","ENSEMBL:ENSP00000337972.3","ENSEMBL:ENSP00000433214","ENSEMBL:ENSP00000433214.1"],"information_content":100.0}
{"id":"UniProtKB:Q8WTT0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"C-type lectin domain family 4 member C isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8WTT0-1","PR:Q8WTT0-1","ENSEMBL:ENSP00000353500","ENSEMBL:ENSP00000353500.3","ENSEMBL:ENSP00000440428","ENSEMBL:ENSP00000440428.1"],"information_content":100.0}
{"id":"UniProtKB:Q8WTU2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"scavenger receptor cysteine-rich domain-containing group B protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8WTU2-1","PR:Q8WTU2-1","ENSEMBL:ENSP00000275560","ENSEMBL:ENSP00000275560.3"],"information_content":100.0}
{"id":"UniProtKB:Q8WTV0-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"scavenger receptor class B member 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8WTV0-2","PR:Q8WTV0-2","ENSEMBL:ENSP00000261693","ENSEMBL:ENSP00000261693.6"],"information_content":100.0}
{"id":"UniProtKB:Q8WTV1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"THAP domain-containing protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8WTV1-1","PR:Q8WTV1-1","ENSEMBL:ENSP00000054650","ENSEMBL:ENSP00000054650.4"],"information_content":100.0}
{"id":"UniProtKB:Q8WTW4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GATOR1 complex protein NPRL2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8WTW4-1","PR:Q8WTW4-1","ENSEMBL:ENSP00000232501","ENSEMBL:ENSP00000232501.3"],"information_content":100.0}
{"id":"UniProtKB:Q8WU10-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8WU10-1","PR:Q8WU10-1","ENSEMBL:ENSP00000240651","ENSEMBL:ENSP00000240651.9"],"information_content":100.0}
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{"id":"UniProtKB:Q8WU66-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"thrombospondin-type laminin G domain and EAR repeat-containing protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8WU66-1","PR:Q8WU66-1","ENSEMBL:ENSP00000321987","ENSEMBL:ENSP00000321987.4"],"information_content":100.0}
{"id":"UniProtKB:Q8WU67-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phospholipase ABHD3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8WU67-1","PR:Q8WU67-1","ENSEMBL:ENSP00000289119","ENSEMBL:ENSP00000289119.2"],"information_content":100.0}
{"id":"UniProtKB:Q8WU68-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"splicing factor U2AF 26 kDa subunit isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8WU68-2","PR:Q8WU68-2","ENSEMBL:ENSP00000292879","ENSEMBL:ENSP00000292879.4"],"information_content":100.0}
{"id":"UniProtKB:Q8WU76-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Sec1 family domain-containing protein 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q8WU76-1","PR:Q8WU76-1","ENSEMBL:ENSP00000384182","ENSEMBL:ENSP00000384182.3"],"information_content":100.0}
{"id":"UniProtKB:Q8WU79-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"stromal membrane-associated protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8WU79-1","PR:Q8WU79-1","ENSEMBL:ENSP00000361803","ENSEMBL:ENSP00000361803.3"],"information_content":100.0}
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{"id":"UniProtKB:Q8WVR3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"trafficking protein particle complex subunit 14 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8WVR3-1","PR:Q8WVR3-1","ENSEMBL:ENSP00000324741","ENSEMBL:ENSP00000324741.3"],"information_content":100.0}
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{"id":"UniProtKB:Q8WWW8-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GRB2-associated-binding protein 3 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8WWW8-2","PR:Q8WWW8-2","ENSEMBL:ENSP00000399588","ENSEMBL:ENSP00000399588.2"],"information_content":100.0}
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{"id":"UniProtKB:Q8WY91-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"peroxynitrite isomerase THAP4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8WY91-1","PR:Q8WY91-1","ENSEMBL:ENSP00000385006","ENSEMBL:ENSP00000385006.1"],"information_content":100.0}
{"id":"UniProtKB:Q8WYA0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"intraflagellar transport protein 81 homolog isoform CDV-1R (human)","equivalent_identifiers":["UniProtKB:Q8WYA0-1","PR:Q8WYA0-1","ENSEMBL:ENSP00000242591","ENSEMBL:ENSP00000242591.5","ENSEMBL:ENSP00000449718","ENSEMBL:ENSP00000449718.1"],"information_content":100.0}
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{"id":"UniProtKB:Q8WYB5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"histone acetyltransferase KAT6B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8WYB5-1","PR:Q8WYB5-1","ENSEMBL:ENSP00000287239","ENSEMBL:ENSP00000287239.4","ENSEMBL:ENSP00000486595","ENSEMBL:ENSP00000486595.1","ENSEMBL:ENSP00000497166","ENSEMBL:ENSP00000497166.1","ENSEMBL:ENSP00000497352","ENSEMBL:ENSP00000497352.1","ENSEMBL:ENSP00000497718","ENSEMBL:ENSP00000497718.1","ENSEMBL:ENSP00000497841","ENSEMBL:ENSP00000497841.1"],"information_content":100.0}
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{"id":"UniProtKB:Q8WYK2-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Jun dimerization protein 2 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q8WYK2-2","PR:Q8WYK2-2","ENSEMBL:ENSP00000267569","ENSEMBL:ENSP00000267569.5"],"information_content":100.0}
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{"id":"UniProtKB:Q8WYQ9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger CCHC domain-containing protein 14 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q8WYQ9-1","PR:Q8WYQ9-1","ENSEMBL:ENSP00000268616","ENSEMBL:ENSP00000268616.4"],"information_content":100.0}
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{"id":"UniProtKB:Q92496-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"complement factor H-related protein 4 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q92496-2","PR:Q92496-2","ENSEMBL:ENSP00000356386","ENSEMBL:ENSP00000356386.2"],"information_content":100.0}
{"id":"UniProtKB:Q92499-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATP-dependent RNA helicase DDX1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q92499-1","PR:Q92499-1","ENSEMBL:ENSP00000233084","ENSEMBL:ENSP00000233084.3","ENSEMBL:ENSP00000370745","ENSEMBL:ENSP00000370745.1","ENSEMBL:ENSP00000413767","ENSEMBL:ENSP00000413767.2","ENSEMBL:ENSP00000504080","ENSEMBL:ENSP00000504080.1"],"information_content":100.0}
{"id":"UniProtKB:Q92502-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"StAR-related lipid transfer protein 8 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q92502-2","PR:Q92502-2","ENSEMBL:ENSP00000363727","ENSEMBL:ENSP00000363727.3"],"information_content":100.0}
{"id":"UniProtKB:Q92503-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SEC14-like protein 1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q92503-2","PR:Q92503-2","ENSEMBL:ENSP00000376268","ENSEMBL:ENSP00000376268.2","ENSEMBL:ENSP00000406030","ENSEMBL:ENSP00000406030.3"],"information_content":100.0}
{"id":"UniProtKB:Q92523-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"carnitine O-palmitoyltransferase 1, muscle isoform isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q92523-1","PR:Q92523-1","ENSEMBL:ENSP00000312189","ENSEMBL:ENSP00000312189.8","ENSEMBL:ENSP00000379011","ENSEMBL:ENSP00000379011.2","ENSEMBL:ENSP00000385486","ENSEMBL:ENSP00000385486.3"],"information_content":100.0}
{"id":"UniProtKB:Q92526-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"T-complex protein 1 subunit zeta-2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q92526-1","PR:Q92526-1","ENSEMBL:ENSP00000327191","ENSEMBL:ENSP00000327191.5"],"information_content":100.0}
{"id":"UniProtKB:Q92527-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ankyrin repeat domain-containing protein 7 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q92527-1","PR:Q92527-1","ENSEMBL:ENSP00000265224","ENSEMBL:ENSP00000265224.4"],"information_content":100.0}
{"id":"UniProtKB:Q92529-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SHC-transforming protein 3 isoform hp64 (human)","equivalent_identifiers":["UniProtKB:Q92529-1","PR:Q92529-1","ENSEMBL:ENSP00000364995","ENSEMBL:ENSP00000364995.4"],"information_content":100.0}
{"id":"UniProtKB:Q92538-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q92538-4","PR:Q92538-4","ENSEMBL:ENSP00000359000","ENSEMBL:ENSP00000359000.4"],"information_content":100.0}
{"id":"UniProtKB:Q92540-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nonsense-mediated mRNA decay factor SMG7 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q92540-4","PR:Q92540-4","ENSEMBL:ENSP00000425133","ENSEMBL:ENSP00000425133.1"],"information_content":100.0}
{"id":"UniProtKB:Q92542-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nicastrin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q92542-1","PR:Q92542-1","ENSEMBL:ENSP00000294785","ENSEMBL:ENSP00000294785.5"],"information_content":100.0}
{"id":"UniProtKB:Q92543-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sorting nexin-19 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q92543-1","PR:Q92543-1","ENSEMBL:ENSP00000265909","ENSEMBL:ENSP00000265909.4"],"information_content":100.0}
{"id":"UniProtKB:Q92551-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"inositol hexakisphosphate kinase 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q92551-1","PR:Q92551-1","ENSEMBL:ENSP00000323780","ENSEMBL:ENSP00000323780.4","ENSEMBL:ENSP00000482032","ENSEMBL:ENSP00000482032.1"],"information_content":100.0}
{"id":"UniProtKB:Q92552-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"small ribosomal subunit protein mS27 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q92552-2","PR:Q92552-2","ENSEMBL:ENSP00000426941","ENSEMBL:ENSP00000426941.1"],"information_content":100.0}
{"id":"UniProtKB:Q92556-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"engulfment and cell motility protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q92556-1","PR:Q92556-1","ENSEMBL:ENSP00000312185","ENSEMBL:ENSP00000312185.4","ENSEMBL:ENSP00000394458","ENSEMBL:ENSP00000394458.1","ENSEMBL:ENSP00000406952","ENSEMBL:ENSP00000406952.1"],"information_content":100.0}
{"id":"UniProtKB:Q92563-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"testican-2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q92563-1","PR:Q92563-1","ENSEMBL:ENSP00000321108","ENSEMBL:ENSP00000321108.4","ENSEMBL:ENSP00000362201","ENSEMBL:ENSP00000362201.2"],"information_content":100.0}
{"id":"UniProtKB:Q92564-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DCN1-like protein 4 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q92564-3","PR:Q92564-3","ENSEMBL:ENSP00000389900","ENSEMBL:ENSP00000389900.2"],"information_content":100.0}
{"id":"UniProtKB:Q92567-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein FAM168A isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q92567-1","PR:Q92567-1","ENSEMBL:ENSP00000064778","ENSEMBL:ENSP00000064778.4"],"information_content":100.0}
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{"id":"UniProtKB:Q92570-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nuclear receptor subfamily 4 group A member 3 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q92570-3","PR:Q92570-3","ENSEMBL:ENSP00000333122","ENSEMBL:ENSP00000333122.1","ENSEMBL:ENSP00000482027","ENSEMBL:ENSP00000482027.1"],"information_content":100.0}
{"id":"UniProtKB:Q92574-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"hamartin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q92574-1","PR:Q92574-1","ENSEMBL:ENSP00000298552","ENSEMBL:ENSP00000298552.3","ENSEMBL:ENSP00000495158","ENSEMBL:ENSP00000495158.1","ENSEMBL:ENSP00000495533","ENSEMBL:ENSP00000495533.2","ENSEMBL:ENSP00000495830","ENSEMBL:ENSP00000495830.2","ENSEMBL:ENSP00000496263","ENSEMBL:ENSP00000496263.1"],"information_content":100.0}
{"id":"UniProtKB:Q92576-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"PHD finger protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q92576-1","PR:Q92576-1","ENSEMBL:ENSP00000262043","ENSEMBL:ENSP00000262043.4","ENSEMBL:ENSP00000377048","ENSEMBL:ENSP00000377048.1"],"information_content":100.0}
{"id":"UniProtKB:Q92581-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sodium/hydrogen exchanger 6 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q92581-2","PR:Q92581-2","ENSEMBL:ENSP00000359729","ENSEMBL:ENSP00000359729.4"],"information_content":100.0}
{"id":"UniProtKB:Q92597-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein NDRG1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q92597-1","PR:Q92597-1","ENSEMBL:ENSP00000319977","ENSEMBL:ENSP00000319977.8","ENSEMBL:ENSP00000404854","ENSEMBL:ENSP00000404854.2"],"information_content":100.0}
{"id":"UniProtKB:Q92598-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"heat shock protein 105 kDa isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q92598-4","PR:Q92598-4","ENSEMBL:ENSP00000487365","ENSEMBL:ENSP00000487365.1"],"information_content":100.0}
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{"id":"UniProtKB:Q92614-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ENSP00000437073","equivalent_identifiers":["UniProtKB:Q92614-1","ENSEMBL:ENSP00000437073","ENSEMBL:ENSP00000437073.1"]}
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{"id":"UniProtKB:Q92622-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q92622-1","PR:Q92622-1","ENSEMBL:ENSP00000296343","ENSEMBL:ENSP00000296343.5"],"information_content":100.0}
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{"id":"UniProtKB:Q92630-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dual specificity tyrosine-phosphorylation-regulated kinase 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q92630-1","PR:Q92630-1","ENSEMBL:ENSP00000342105","ENSEMBL:ENSP00000342105.4"],"information_content":100.0}
{"id":"UniProtKB:Q92633-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lysophosphatidic acid receptor 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q92633-1","PR:Q92633-1","ENSEMBL:ENSP00000351755","ENSEMBL:ENSP00000351755.4","ENSEMBL:ENSP00000363552","ENSEMBL:ENSP00000363552.1","ENSEMBL:ENSP00000363553","ENSEMBL:ENSP00000363553.3","ENSEMBL:ENSP00000506912","ENSEMBL:ENSP00000506912.1"],"information_content":100.0}
{"id":"UniProtKB:Q92636-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein FAN isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q92636-2","PR:Q92636-2","ENSEMBL:ENSP00000411012","ENSEMBL:ENSP00000411012.2"],"information_content":100.0}
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{"id":"UniProtKB:Q93050-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"V-type proton ATPase 116 kDa subunit a 1 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q93050-3","PR:Q93050-3","ENSEMBL:ENSP00000264649","ENSEMBL:ENSP00000264649.5"],"information_content":100.0}
{"id":"UniProtKB:Q93062-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RNA-binding protein with multiple splicing isoform C (human)","equivalent_identifiers":["UniProtKB:Q93062-3","PR:Q93062-3","ENSEMBL:ENSP00000340176","ENSEMBL:ENSP00000340176.4"],"information_content":100.0}
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{"id":"UniProtKB:Q93073-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"selenocysteine insertion sequence-binding protein 2-like isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q93073-1","PR:Q93073-1","ENSEMBL:ENSP00000453854","ENSEMBL:ENSP00000453854.1"],"information_content":100.0}
{"id":"UniProtKB:Q93074-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mediator of RNA polymerase II transcription subunit 12 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q93074-1","PR:Q93074-1","ENSEMBL:ENSP00000363193","ENSEMBL:ENSP00000363193.3"],"information_content":100.0}
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{"id":"UniProtKB:Q969T7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"7-methylguanosine phosphate-specific 5'-nucleotidase isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q969T7-1","PR:Q969T7-1","ENSEMBL:ENSP00000389948","ENSEMBL:ENSP00000389948.2"],"information_content":100.0}
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{"id":"UniProtKB:Q96DU9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"polyadenylate-binding protein 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96DU9-1","PR:Q96DU9-1","ENSEMBL:ENSP00000308012","ENSEMBL:ENSP00000308012.3"],"information_content":100.0}
{"id":"UniProtKB:Q96DV4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"large ribosomal subunit protein mL38 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96DV4-1","PR:Q96DV4-1","ENSEMBL:ENSP00000308275","ENSEMBL:ENSP00000308275.4"],"information_content":100.0}
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{"id":"UniProtKB:Q96DX5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ankyrin repeat and SOCS box protein 9 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96DX5-1","PR:Q96DX5-1","ENSEMBL:ENSP00000369855","ENSEMBL:ENSP00000369855.4"],"information_content":100.0}
{"id":"UniProtKB:Q96DY2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dynein regulatory complex protein 10 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96DY2-1","PR:Q96DY2-1","ENSEMBL:ENSP00000400669","ENSEMBL:ENSP00000400669.2"],"information_content":100.0}
{"id":"UniProtKB:Q96DY7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Mdm2-binding protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96DY7-1","PR:Q96DY7-1","ENSEMBL:ENSP00000303398","ENSEMBL:ENSP00000303398.1"],"information_content":100.0}
{"id":"UniProtKB:Q96DZ1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"endoplasmic reticulum lectin 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96DZ1-1","PR:Q96DZ1-1","ENSEMBL:ENSP00000185150","ENSEMBL:ENSP00000185150.4"],"information_content":100.0}
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{"id":"UniProtKB:Q96EY5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"multivesicular body subunit 12A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96EY5-1","PR:Q96EY5-1","ENSEMBL:ENSP00000324810","ENSEMBL:ENSP00000324810.6"],"information_content":100.0}
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{"id":"UniProtKB:Q96F07-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytoplasmic FMR1-interacting protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96F07-1","PR:Q96F07-1","ENSEMBL:ENSP00000479719","ENSEMBL:ENSP00000479719.1"],"information_content":100.0}
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{"id":"UniProtKB:Q96F24-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nuclear receptor-binding factor 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96F24-1","PR:Q96F24-1","ENSEMBL:ENSP00000277746","ENSEMBL:ENSP00000277746.6"],"information_content":100.0}
{"id":"UniProtKB:Q96F44-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase TRIM11 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96F44-1","PR:Q96F44-1","ENSEMBL:ENSP00000284551","ENSEMBL:ENSP00000284551.6"],"information_content":100.0}
{"id":"UniProtKB:Q96F45-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 503 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96F45-1","PR:Q96F45-1","ENSEMBL:ENSP00000361602","ENSEMBL:ENSP00000361602.4"],"information_content":100.0}
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{"id":"UniProtKB:Q96F85-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"CB1 cannabinoid receptor-interacting protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96F85-1","PR:Q96F85-1","ENSEMBL:ENSP00000263655","ENSEMBL:ENSP00000263655.3"],"information_content":100.0}
{"id":"UniProtKB:Q96FB5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"methyltransferase-like protein 25B isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96FB5-1","PR:Q96FB5-1","ENSEMBL:ENSP00000357199","ENSEMBL:ENSP00000357199.4"],"information_content":100.0}
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{"id":"UniProtKB:Q96FE5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96FE5-1","PR:Q96FE5-1","ENSEMBL:ENSP00000347451","ENSEMBL:ENSP00000347451.6"],"information_content":100.0}
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{"id":"UniProtKB:Q96HU1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"small G protein signaling modulator 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96HU1-1","PR:Q96HU1-1","ENSEMBL:ENSP00000248929","ENSEMBL:ENSP00000248929.8"],"information_content":100.0}
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{"id":"UniProtKB:Q96HZ4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transcription cofactor HES-6 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96HZ4-1","PR:Q96HZ4-1","ENSEMBL:ENSP00000272937","ENSEMBL:ENSP00000272937.5"],"information_content":100.0}
{"id":"UniProtKB:Q96I24-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"far upstream element-binding protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96I24-1","PR:Q96I24-1","ENSEMBL:ENSP00000318177","ENSEMBL:ENSP00000318177.9"],"information_content":100.0}
{"id":"UniProtKB:Q96I27-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 625 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q96I27-2","PR:Q96I27-2","ENSEMBL:ENSP00000394380","ENSEMBL:ENSP00000394380.2"],"information_content":100.0}
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{"id":"UniProtKB:Q96KN3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"homeobox protein PKNOX2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96KN3-1","PR:Q96KN3-1","ENSEMBL:ENSP00000298282","ENSEMBL:ENSP00000298282.8"],"information_content":100.0}
{"id":"UniProtKB:Q96KN7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96KN7-1","PR:Q96KN7-1","ENSEMBL:ENSP00000382895","ENSEMBL:ENSP00000382895.2"],"information_content":100.0}
{"id":"UniProtKB:Q96KN8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phospholipase A and acyltransferase 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96KN8-1","PR:Q96KN8-1","ENSEMBL:ENSP00000301790","ENSEMBL:ENSP00000301790.4"],"information_content":100.0}
{"id":"UniProtKB:Q96KP4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytosolic non-specific dipeptidase isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96KP4-1","PR:Q96KP4-1","ENSEMBL:ENSP00000325548","ENSEMBL:ENSP00000325548.4","ENSEMBL:ENSP00000462311","ENSEMBL:ENSP00000462311.1"],"information_content":100.0}
{"id":"UniProtKB:Q96KP6-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"TNFAIP3-interacting protein 3 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q96KP6-3","PR:Q96KP6-3","ENSEMBL:ENSP00000426613","ENSEMBL:ENSP00000426613.1"],"information_content":100.0}
{"id":"UniProtKB:Q96KR4-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leishmanolysin-like peptidase isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q96KR4-3","PR:Q96KR4-3","ENSEMBL:ENSP00000410926","ENSEMBL:ENSP00000410926.3"],"information_content":100.0}
{"id":"UniProtKB:Q96KR7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phosphatase and actin regulator 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96KR7-1","PR:Q96KR7-1","ENSEMBL:ENSP00000360054","ENSEMBL:ENSP00000360054.1"],"information_content":100.0}
{"id":"UniProtKB:Q96KS0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"prolyl hydroxylase EGLN2 isoform hp43 (human)","equivalent_identifiers":["UniProtKB:Q96KS0-1","PR:Q96KS0-1","ENSEMBL:ENSP00000307080","ENSEMBL:ENSP00000307080.3","ENSEMBL:ENSP00000385253","ENSEMBL:ENSP00000385253.1","ENSEMBL:ENSP00000469686","ENSEMBL:ENSP00000469686.1"],"information_content":100.0}
{"id":"UniProtKB:Q96KV7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"WD repeat-containing protein 90 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96KV7-1","PR:Q96KV7-1","ENSEMBL:ENSP00000293879","ENSEMBL:ENSP00000293879.4"],"information_content":100.0}
{"id":"UniProtKB:Q96L08-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sushi domain-containing protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96L08-1","PR:Q96L08-1","ENSEMBL:ENSP00000364621","ENSEMBL:ENSP00000364621.3"],"information_content":100.0}
{"id":"UniProtKB:Q96L15-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ecto-ADP-ribosyltransferase 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96L15-1","PR:Q96L15-1","ENSEMBL:ENSP00000352992","ENSEMBL:ENSP00000352992.4","ENSEMBL:ENSP00000380258","ENSEMBL:ENSP00000380258.3"],"information_content":100.0}
{"id":"UniProtKB:Q96L34-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"MAP/microtubule affinity-regulating kinase 4 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96L34-1","PR:Q96L34-1","ENSEMBL:ENSP00000262891","ENSEMBL:ENSP00000262891.3"],"information_content":100.0}
{"id":"UniProtKB:Q96L42-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"voltage-gated delayed rectifier potassium channel KCNH8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96L42-1","PR:Q96L42-1","ENSEMBL:ENSP00000328813","ENSEMBL:ENSP00000328813.2"],"information_content":100.0}
{"id":"UniProtKB:Q96L50-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine-rich repeat protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96L50-1","PR:Q96L50-1","ENSEMBL:ENSP00000298288","ENSEMBL:ENSP00000298288.6"],"information_content":100.0}
{"id":"UniProtKB:Q96L73-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"histone-lysine N-methyltransferase, H3 lysine-36 specific isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96L73-1","PR:Q96L73-1","ENSEMBL:ENSP00000395929","ENSEMBL:ENSP00000395929.2"],"information_content":100.0}
{"id":"UniProtKB:Q96L91-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E1A-binding protein p400 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q96L91-2","PR:Q96L91-2","ENSEMBL:ENSP00000374212","ENSEMBL:ENSP00000374212.2"],"information_content":100.0}
{"id":"UniProtKB:Q96L92-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sorting nexin-27 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96L92-1","PR:Q96L92-1","ENSEMBL:ENSP00000400333","ENSEMBL:ENSP00000400333.2"],"information_content":100.0}
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{"id":"UniProtKB:Q96LB3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"intraflagellar transport protein 74 homolog isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96LB3-1","PR:Q96LB3-1","ENSEMBL:ENSP00000369402","ENSEMBL:ENSP00000369402.5","ENSEMBL:ENSP00000389224","ENSEMBL:ENSP00000389224.1","ENSEMBL:ENSP00000404122","ENSEMBL:ENSP00000404122.1"],"information_content":100.0}
{"id":"UniProtKB:Q96LB4-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"V-type proton ATPase subunit G 3 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q96LB4-4","PR:Q96LB4-4","ENSEMBL:ENSP00000417171","ENSEMBL:ENSP00000417171.1","ENSEMBL:ENSP00000461228","ENSEMBL:ENSP00000461228.1"],"information_content":100.0}
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{"id":"UniProtKB:Q96LD1-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zeta-sarcoglycan isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q96LD1-2","PR:Q96LD1-2","ENSEMBL:ENSP00000371512","ENSEMBL:ENSP00000371512.1"],"information_content":100.0}
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{"id":"UniProtKB:Q96LL3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"fertilization-influencing membrane protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96LL3-1","PR:Q96LL3-1","ENSEMBL:ENSP00000300575","ENSEMBL:ENSP00000300575.2"],"information_content":100.0}
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{"id":"UniProtKB:Q96LP6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"uncharacterized protein C12orf42 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96LP6-1","PR:Q96LP6-1","ENSEMBL:ENSP00000367353","ENSEMBL:ENSP00000367353.2","ENSEMBL:ENSP00000447908","ENSEMBL:ENSP00000447908.1"],"information_content":100.0}
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{"id":"UniProtKB:Q96LT4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sphingomyelin synthase-related protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96LT4-1","PR:Q96LT4-1","ENSEMBL:ENSP00000438042","ENSEMBL:ENSP00000438042.1","ENSEMBL:ENSP00000500411","ENSEMBL:ENSP00000500411.1"],"information_content":100.0}
{"id":"UniProtKB:Q96LT7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"guanine nucleotide exchange factor C9orf72 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96LT7-1","PR:Q96LT7-1","ENSEMBL:ENSP00000369339","ENSEMBL:ENSP00000369339.3","ENSEMBL:ENSP00000482753","ENSEMBL:ENSP00000482753.1"],"information_content":100.0}
{"id":"UniProtKB:Q96LT9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RNA-binding region-containing protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96LT9-1","PR:Q96LT9-1","ENSEMBL:ENSP00000391432","ENSEMBL:ENSP00000391432.1","ENSEMBL:ENSP00000432886","ENSEMBL:ENSP00000432886.1"],"information_content":100.0}
{"id":"UniProtKB:Q96LW4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DNA-directed primase/polymerase protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96LW4-1","PR:Q96LW4-1","ENSEMBL:ENSP00000313816","ENSEMBL:ENSP00000313816.6","ENSEMBL:ENSP00000420860","ENSEMBL:ENSP00000420860.1"],"information_content":100.0}
{"id":"UniProtKB:Q96LW9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger and SCAN domain-containing protein 31 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96LW9-1","PR:Q96LW9-1","ENSEMBL:ENSP00000345339","ENSEMBL:ENSP00000345339.6","ENSEMBL:ENSP00000380050","ENSEMBL:ENSP00000380050.2","ENSEMBL:ENSP00000390076","ENSEMBL:ENSP00000390076.1","ENSEMBL:ENSP00000413705","ENSEMBL:ENSP00000413705.1"],"information_content":100.0}
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{"id":"UniProtKB:Q96M98-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"parkin coregulated gene protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96M98-1","PR:Q96M98-1","ENSEMBL:ENSP00000337946","ENSEMBL:ENSP00000337946.3"],"information_content":100.0}
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{"id":"UniProtKB:Q96PK6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RNA-binding protein 14 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96PK6-1","PR:Q96PK6-1","ENSEMBL:ENSP00000311747","ENSEMBL:ENSP00000311747.5"],"information_content":100.0}
{"id":"UniProtKB:Q96PM5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"RING finger and CHY zinc finger domain-containing protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96PM5-1","PR:Q96PM5-1","ENSEMBL:ENSP00000321239","ENSEMBL:ENSP00000321239.5"],"information_content":100.0}
{"id":"UniProtKB:Q96PM9-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 385A isoform 4 (human)","equivalent_identifiers":["UniProtKB:Q96PM9-4","PR:Q96PM9-4","ENSEMBL:ENSP00000338927","ENSEMBL:ENSP00000338927.5"],"information_content":100.0}
{"id":"UniProtKB:Q96PN6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"adenylate cyclase type 10 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96PN6-1","PR:Q96PN6-1","ENSEMBL:ENSP00000356825","ENSEMBL:ENSP00000356825.4"],"information_content":100.0}
{"id":"UniProtKB:Q96PP8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"guanylate-binding protein 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96PP8-1","PR:Q96PP8-1","ENSEMBL:ENSP00000359488","ENSEMBL:ENSP00000359488.3"],"information_content":100.0}
{"id":"UniProtKB:Q96PQ1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sialic acid-binding Ig-like lectin 12 isoform Long (human)","equivalent_identifiers":["UniProtKB:Q96PQ1-1","PR:Q96PQ1-1","ENSEMBL:ENSP00000291707","ENSEMBL:ENSP00000291707.3"],"information_content":100.0}
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{"id":"UniProtKB:Q96PQ7-6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kelch-like protein 5 isoform h6 (human)","equivalent_identifiers":["UniProtKB:Q96PQ7-6","PR:Q96PQ7-6","ENSEMBL:ENSP00000261425","ENSEMBL:ENSP00000261425.3","ENSEMBL:ENSP00000423897","ENSEMBL:ENSP00000423897.2"],"information_content":100.0}
{"id":"UniProtKB:Q96PR1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"voltage-gated potassium channel KCNC2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96PR1-1","PR:Q96PR1-1","ENSEMBL:ENSP00000449253","ENSEMBL:ENSP00000449253.2"],"information_content":100.0}
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{"id":"UniProtKB:Q96PV6-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leukocyte receptor cluster member 8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96PV6-2","PR:Q96PV6-2","ENSEMBL:ENSP00000318374","ENSEMBL:ENSP00000318374.5","ENSEMBL:ENSP00000478337","ENSEMBL:ENSP00000478337.1","ENSEMBL:ENSP00000478975","ENSEMBL:ENSP00000478975.1","ENSEMBL:ENSP00000480663","ENSEMBL:ENSP00000480663.1"],"information_content":100.0}
{"id":"UniProtKB:Q96PV7-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein FAM193B isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q96PV7-3","PR:Q96PV7-3","ENSEMBL:ENSP00000422131","ENSEMBL:ENSP00000422131.1"],"information_content":100.0}
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{"id":"UniProtKB:Q96Q07-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"BTB/POZ domain-containing protein 9 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96Q07-1","PR:Q96Q07-1","ENSEMBL:ENSP00000418751","ENSEMBL:ENSP00000418751.1","ENSEMBL:ENSP00000497066","ENSEMBL:ENSP00000497066.1"],"information_content":100.0}
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{"id":"UniProtKB:Q96Q45-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 237 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96Q45-1","PR:Q96Q45-1","ENSEMBL:ENSP00000386264","ENSEMBL:ENSP00000386264.2"],"information_content":100.0}
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{"id":"UniProtKB:Q96Q83-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96Q83-1","PR:Q96Q83-1","ENSEMBL:ENSP00000302232","ENSEMBL:ENSP00000302232.4"],"information_content":100.0}
{"id":"UniProtKB:Q96Q89-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kinesin-like protein KIF20B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96Q89-1","PR:Q96Q89-1","ENSEMBL:ENSP00000360793","ENSEMBL:ENSP00000360793.3"],"information_content":100.0}
{"id":"UniProtKB:Q96Q91-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"anion exchange protein 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96Q91-1","PR:Q96Q91-1","ENSEMBL:ENSP00000427661","ENSEMBL:ENSP00000427661.1"],"information_content":100.0}
{"id":"UniProtKB:Q96QB1-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Rho GTPase-activating protein 7 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q96QB1-2","PR:Q96QB1-2","ENSEMBL:ENSP00000276297","ENSEMBL:ENSP00000276297.4"],"information_content":100.0}
{"id":"UniProtKB:Q96QD5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"DEP domain-containing protein 7 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q96QD5-1","PR:Q96QD5-1","ENSEMBL:ENSP00000241051","ENSEMBL:ENSP00000241051.3"],"information_content":100.0}
{"id":"UniProtKB:Q96QD8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sodium-coupled neutral amino acid symporter 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96QD8-1","PR:Q96QD8-1","ENSEMBL:ENSP00000256689","ENSEMBL:ENSP00000256689.5"],"information_content":100.0}
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{"id":"UniProtKB:Q96QE3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATPase family AAA domain-containing protein 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96QE3-1","PR:Q96QE3-1","ENSEMBL:ENSP00000313171","ENSEMBL:ENSP00000313171.4"],"information_content":100.0}
{"id":"UniProtKB:Q96QE4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine-rich repeat-containing protein 37B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96QE4-1","PR:Q96QE4-1","ENSEMBL:ENSP00000340519","ENSEMBL:ENSP00000340519.7"],"information_content":100.0}
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{"id":"UniProtKB:Q96QP1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"alpha-protein kinase 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96QP1-1","PR:Q96QP1-1","ENSEMBL:ENSP00000177648","ENSEMBL:ENSP00000177648.9","ENSEMBL:ENSP00000398048","ENSEMBL:ENSP00000398048.1","ENSEMBL:ENSP00000498374","ENSEMBL:ENSP00000498374.1"],"information_content":100.0}
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{"id":"UniProtKB:Q96RV3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"pecanex-like protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96RV3-1","PR:Q96RV3-1","ENSEMBL:ENSP00000304192","ENSEMBL:ENSP00000304192.2"],"information_content":100.0}
{"id":"UniProtKB:Q96RW7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"hemicentin-1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96RW7-1","PR:Q96RW7-1","ENSEMBL:ENSP00000271588","ENSEMBL:ENSP00000271588.4"],"information_content":100.0}
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{"id":"UniProtKB:Q96S06-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lipase maturation factor 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96S06-1","PR:Q96S06-1","ENSEMBL:ENSP00000262301","ENSEMBL:ENSP00000262301.12"],"information_content":100.0}
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{"id":"UniProtKB:Q96S59-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ran-binding protein 9 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q96S59-1","PR:Q96S59-1","ENSEMBL:ENSP00000011619","ENSEMBL:ENSP00000011619.3"],"information_content":100.0}
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{"id":"UniProtKB:Q99578-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GTP-binding protein Rit2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q99578-1","PR:Q99578-1","ENSEMBL:ENSP00000321805","ENSEMBL:ENSP00000321805.4"],"information_content":100.0}
{"id":"UniProtKB:Q99590-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein SCAF11 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q99590-1","PR:Q99590-1","ENSEMBL:ENSP00000358374","ENSEMBL:ENSP00000358374.3"],"information_content":100.0}
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{"id":"UniProtKB:Q99593-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"T-box transcription factor TBX5 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q99593-1","PR:Q99593-1","ENSEMBL:ENSP00000309913","ENSEMBL:ENSP00000309913.4","ENSEMBL:ENSP00000384152","ENSEMBL:ENSP00000384152.3"],"information_content":100.0}
{"id":"UniProtKB:Q99612-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"krueppel-like factor 6 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q99612-1","PR:Q99612-1","ENSEMBL:ENSP00000419923","ENSEMBL:ENSP00000419923.1"],"information_content":95.4}
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{"id":"UniProtKB:Q99643-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q99643-1","PR:Q99643-1","ENSEMBL:ENSP00000356953","ENSEMBL:ENSP00000356953.3"],"information_content":100.0}
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{"id":"UniProtKB:Q99720-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sigma non-opioid intracellular receptor 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q99720-1","PR:Q99720-1","ENSEMBL:ENSP00000277010","ENSEMBL:ENSP00000277010.4"],"information_content":100.0}
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{"id":"UniProtKB:Q99732-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q99732-1","PR:Q99732-1","ENSEMBL:ENSP00000340118","ENSEMBL:ENSP00000340118.5","ENSEMBL:ENSP00000459138","ENSEMBL:ENSP00000459138.1","ENSEMBL:ENSP00000459533","ENSEMBL:ENSP00000459533.1","ENSEMBL:ENSP00000461667","ENSEMBL:ENSP00000461667.1","ENSEMBL:ENSP00000461813","ENSEMBL:ENSP00000461813.1","ENSEMBL:ENSP00000483114","ENSEMBL:ENSP00000483114.1"],"information_content":100.0}
{"id":"UniProtKB:Q99733-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nucleosome assembly protein 1-like 4 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q99733-1","PR:Q99733-1","ENSEMBL:ENSP00000369915","ENSEMBL:ENSP00000369915.4","ENSEMBL:ENSP00000483728","ENSEMBL:ENSP00000483728.1"],"information_content":100.0}
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{"id":"UniProtKB:Q99742-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"neuronal PAS domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q99742-1","PR:Q99742-1","ENSEMBL:ENSP00000405290","ENSEMBL:ENSP00000405290.1","ENSEMBL:ENSP00000469142","ENSEMBL:ENSP00000469142.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9BRD0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"BUD13 homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BRD0-1","PR:Q9BRD0-1","ENSEMBL:ENSP00000260210","ENSEMBL:ENSP00000260210.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9BRI3-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"proton-coupled zinc antiporter SLC30A2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BRI3-2","PR:Q9BRI3-2","ENSEMBL:ENSP00000363394","ENSEMBL:ENSP00000363394.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BRK0-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"receptor expression-enhancing protein 2 isoform 2 (human)","equivalent_identifiers":["UniProtKB:Q9BRK0-2","PR:Q9BRK0-2","ENSEMBL:ENSP00000367590","ENSEMBL:ENSP00000367590.2"],"information_content":100.0}
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{"id":"UniProtKB:Q9BSJ2-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"gamma-tubulin complex component 2 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9BSJ2-4","PR:Q9BSJ2-4","ENSEMBL:ENSP00000446093","ENSEMBL:ENSP00000446093.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9BUG6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger and SCAN domain-containing protein 5A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BUG6-1","PR:Q9BUG6-1","ENSEMBL:ENSP00000375593","ENSEMBL:ENSP00000375593.1","ENSEMBL:ENSP00000467631","ENSEMBL:ENSP00000467631.1","ENSEMBL:ENSP00000507065","ENSEMBL:ENSP00000507065.1"],"information_content":100.0}
{"id":"UniProtKB:Q9BUH6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein PAXX isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BUH6-1","PR:Q9BUH6-1","ENSEMBL:ENSP00000360682","ENSEMBL:ENSP00000360682.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BUJ2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"heterogeneous nuclear ribonucleoprotein U-like protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BUJ2-1","PR:Q9BUJ2-1","ENSEMBL:ENSP00000375863","ENSEMBL:ENSP00000375863.2"],"information_content":100.0}
{"id":"UniProtKB:Q9BUK0-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q9BUK0-4","PR:Q9BUK0-4","ENSEMBL:ENSP00000306425","ENSEMBL:ENSP00000306425.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BUK6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein misato homolog 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BUK6-1","PR:Q9BUK6-1","ENSEMBL:ENSP00000245564","ENSEMBL:ENSP00000245564.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BUL5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"PHD finger protein 23 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BUL5-1","PR:Q9BUL5-1","ENSEMBL:ENSP00000322579","ENSEMBL:ENSP00000322579.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BUN1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein MENT isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BUN1-1","PR:Q9BUN1-1","ENSEMBL:ENSP00000357922","ENSEMBL:ENSP00000357922.5"],"information_content":100.0}
{"id":"UniProtKB:Q9BUN5-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"coiled-coil domain-containing protein 28B isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q9BUN5-3","PR:Q9BUN5-3","ENSEMBL:ENSP00000413017","ENSEMBL:ENSP00000413017.2"],"information_content":100.0}
{"id":"UniProtKB:Q9BUN8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"derlin-1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BUN8-1","PR:Q9BUN8-1","ENSEMBL:ENSP00000259512","ENSEMBL:ENSP00000259512.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BUP0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"EF-hand domain-containing protein D1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BUP0-1","PR:Q9BUP0-1","ENSEMBL:ENSP00000264059","ENSEMBL:ENSP00000264059.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BUP3-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"oxidoreductase HTATIP2 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9BUP3-3","PR:Q9BUP3-3","ENSEMBL:ENSP00000392985","ENSEMBL:ENSP00000392985.2"],"information_content":100.0}
{"id":"UniProtKB:Q9BUQ8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"probable ATP-dependent RNA helicase DDX23 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BUQ8-1","PR:Q9BUQ8-1","ENSEMBL:ENSP00000310723","ENSEMBL:ENSP00000310723.2"],"information_content":100.0}
{"id":"UniProtKB:Q9BUR5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"MICOS complex subunit MIC26 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BUR5-1","PR:Q9BUR5-1","ENSEMBL:ENSP00000368528","ENSEMBL:ENSP00000368528.4"],"information_content":100.0}
{"id":"UniProtKB:Q9BUT1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dehydrogenase/reductase SDR family member 6 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BUT1-1","PR:Q9BUT1-1","ENSEMBL:ENSP00000296424","ENSEMBL:ENSP00000296424.4"],"information_content":100.0}
{"id":"UniProtKB:Q9BUU2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"methyltransferase-like protein 22 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BUU2-1","PR:Q9BUU2-1","ENSEMBL:ENSP00000371345","ENSEMBL:ENSP00000371345.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BUV8-5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GEL complex subunit OPTI isoform h5 (human)","equivalent_identifiers":["UniProtKB:Q9BUV8-5","PR:Q9BUV8-5","ENSEMBL:ENSP00000341213","ENSEMBL:ENSP00000341213.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BUX1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glutathione-specific gamma-glutamylcyclotransferase 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BUX1-1","PR:Q9BUX1-1","ENSEMBL:ENSP00000484644","ENSEMBL:ENSP00000484644.2"],"information_content":100.0}
{"id":"UniProtKB:Q9BUY7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"EF-hand calcium-binding domain-containing protein 11 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BUY7-1","PR:Q9BUY7-1","ENSEMBL:ENSP00000326267","ENSEMBL:ENSP00000326267.7"],"information_content":100.0}
{"id":"UniProtKB:Q9BUZ4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"TNF receptor-associated factor 4 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BUZ4-1","PR:Q9BUZ4-1","ENSEMBL:ENSP00000262395","ENSEMBL:ENSP00000262395.5"],"information_content":100.0}
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{"id":"UniProtKB:Q9BV35-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mitochondrial adenyl nucleotide antiporter SLC25A23 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BV35-1","PR:Q9BV35-1","ENSEMBL:ENSP00000301454","ENSEMBL:ENSP00000301454.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BV36-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"melanophilin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BV36-1","PR:Q9BV36-1","ENSEMBL:ENSP00000264605","ENSEMBL:ENSP00000264605.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9BV57-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"acireductone dioxygenase isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BV57-1","PR:Q9BV57-1","ENSEMBL:ENSP00000333666","ENSEMBL:ENSP00000333666.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BV73-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centrosome-associated protein CEP250 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BV73-1","PR:Q9BV73-1","ENSEMBL:ENSP00000380661","ENSEMBL:ENSP00000380661.1"],"information_content":100.0}
{"id":"UniProtKB:Q9BV79-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BV79-1","PR:Q9BV79-1","ENSEMBL:ENSP00000263702","ENSEMBL:ENSP00000263702.6"],"information_content":100.0}
{"id":"UniProtKB:Q9BV86-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"N-terminal Xaa-Pro-Lys N-methyltransferase 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BV86-1","PR:Q9BV86-1","ENSEMBL:ENSP00000361558","ENSEMBL:ENSP00000361558.1","ENSEMBL:ENSP00000361561","ENSEMBL:ENSP00000361561.4","ENSEMBL:ENSP00000361564","ENSEMBL:ENSP00000361564.1","ENSEMBL:ENSP00000478521","ENSEMBL:ENSP00000478521.1","ENSEMBL:ENSP00000483489","ENSEMBL:ENSP00000483489.1"],"information_content":100.0}
{"id":"UniProtKB:Q9BV97-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 747 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9BV97-3","PR:Q9BV97-3","ENSEMBL:ENSP00000457274","ENSEMBL:ENSP00000457274.1"],"information_content":100.0}
{"id":"UniProtKB:Q9BVC4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"target of rapamycin complex subunit LST8 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BVC4-1","PR:Q9BVC4-1","ENSEMBL:ENSP00000380313","ENSEMBL:ENSP00000380313.1","ENSEMBL:ENSP00000455046","ENSEMBL:ENSP00000455046.1","ENSEMBL:ENSP00000456405","ENSEMBL:ENSP00000456405.1","ENSEMBL:ENSP00000457870","ENSEMBL:ENSP00000457870.1"],"information_content":100.0}
{"id":"UniProtKB:Q9BVG3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase TRIM62 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BVG3-1","PR:Q9BVG3-1","ENSEMBL:ENSP00000291416","ENSEMBL:ENSP00000291416.5"],"information_content":100.0}
{"id":"UniProtKB:Q9BVG8-6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kinesin-like protein KIFC3 isoform h5 (human)","equivalent_identifiers":["UniProtKB:Q9BVG8-6","PR:Q9BVG8-6","ENSEMBL:ENSP00000442008","ENSEMBL:ENSP00000442008.1"],"information_content":100.0}
{"id":"UniProtKB:Q9BVI0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"PHD finger protein 20 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BVI0-1","PR:Q9BVI0-1","ENSEMBL:ENSP00000363124","ENSEMBL:ENSP00000363124.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BVJ6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"U3 small nucleolar RNA-associated protein 14 homolog A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BVJ6-1","PR:Q9BVJ6-1","ENSEMBL:ENSP00000377944","ENSEMBL:ENSP00000377944.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BVK2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BVK2-1","PR:Q9BVK2-1","ENSEMBL:ENSP00000299626","ENSEMBL:ENSP00000299626.5"],"information_content":100.0}
{"id":"UniProtKB:Q9BVK8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"BOS complex subunit TMEM147 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BVK8-1","PR:Q9BVK8-1","ENSEMBL:ENSP00000222284","ENSEMBL:ENSP00000222284.4"],"information_content":100.0}
{"id":"UniProtKB:Q9BVL2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nucleoporin p58/p45 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BVL2-1","PR:Q9BVL2-1","ENSEMBL:ENSP00000371155","ENSEMBL:ENSP00000371155.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BVP2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"guanine nucleotide-binding protein-like 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BVP2-1","PR:Q9BVP2-1","ENSEMBL:ENSP00000395772","ENSEMBL:ENSP00000395772.1"],"information_content":100.0}
{"id":"UniProtKB:Q9BVQ7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATPase family gene 2 protein homolog B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BVQ7-1","PR:Q9BVQ7-1","ENSEMBL:ENSP00000305494","ENSEMBL:ENSP00000305494.6"],"information_content":100.0}
{"id":"UniProtKB:Q9BVS4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine/threonine-protein kinase RIO2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BVS4-1","PR:Q9BVS4-1","ENSEMBL:ENSP00000283109","ENSEMBL:ENSP00000283109.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BVV6-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein TALPID3 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9BVV6-3","PR:Q9BVV6-3","ENSEMBL:ENSP00000346359","ENSEMBL:ENSP00000346359.6"],"information_content":100.0}
{"id":"UniProtKB:Q9BVX2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transmembrane protein 106C isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BVX2-1","PR:Q9BVX2-1","ENSEMBL:ENSP00000400471","ENSEMBL:ENSP00000400471.2","ENSEMBL:ENSP00000446657","ENSEMBL:ENSP00000446657.1"],"information_content":100.0}
{"id":"UniProtKB:Q9BW04-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"specifically androgen-regulated gene protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BW04-1","PR:Q9BW04-1","ENSEMBL:ENSP00000352447","ENSEMBL:ENSP00000352447.5"],"information_content":100.0}
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{"id":"UniProtKB:Q9BW66-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cyclin-dependent kinase 2-interacting protein isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BW66-1","PR:Q9BW66-1","ENSEMBL:ENSP00000216756","ENSEMBL:ENSP00000216756.6","ENSEMBL:ENSP00000453839","ENSEMBL:ENSP00000453839.1"],"information_content":100.0}
{"id":"UniProtKB:Q9BW71-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"HIRA-interacting protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BW71-1","PR:Q9BW71-1","ENSEMBL:ENSP00000279392","ENSEMBL:ENSP00000279392.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9BW92-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"threonine--tRNA ligase, mitochondrial isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BW92-1","PR:Q9BW92-1","ENSEMBL:ENSP00000358060","ENSEMBL:ENSP00000358060.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9BX82-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 471 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BX82-1","PR:Q9BX82-1","ENSEMBL:ENSP00000309161","ENSEMBL:ENSP00000309161.4"],"information_content":100.0}
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{"id":"UniProtKB:Q9BY41-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"histone deacetylase 8 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BY41-1","PR:Q9BY41-1","ENSEMBL:ENSP00000362674","ENSEMBL:ENSP00000362674.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BY44-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"eukaryotic translation initiation factor 2A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BY44-1","PR:Q9BY44-1","ENSEMBL:ENSP00000417229","ENSEMBL:ENSP00000417229.1"],"information_content":100.0}
{"id":"UniProtKB:Q9BY49-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"peroxisomal trans-2-enoyl-CoA reductase isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BY49-1","PR:Q9BY49-1","ENSEMBL:ENSP00000265322","ENSEMBL:ENSP00000265322.7"],"information_content":100.0}
{"id":"UniProtKB:Q9BY64-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"UDP-glucuronosyltransferase 2B28 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BY64-1","PR:Q9BY64-1","ENSEMBL:ENSP00000334276","ENSEMBL:ENSP00000334276.5"],"information_content":100.0}
{"id":"UniProtKB:Q9BY66-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lysine-specific demethylase 5D isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BY66-1","PR:Q9BY66-1","ENSEMBL:ENSP00000322408","ENSEMBL:ENSP00000322408.4"],"information_content":100.0}
{"id":"UniProtKB:Q9BY67-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cell adhesion molecule 1 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9BY67-3","PR:Q9BY67-3","ENSEMBL:ENSP00000329797","ENSEMBL:ENSP00000329797.6"],"information_content":100.0}
{"id":"UniProtKB:Q9BY76-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"angiopoietin-related protein 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BY76-1","PR:Q9BY76-1","ENSEMBL:ENSP00000301455","ENSEMBL:ENSP00000301455.1","ENSEMBL:ENSP00000472551","ENSEMBL:ENSP00000472551.1"],"information_content":100.0}
{"id":"UniProtKB:Q9BY79-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"membrane frizzled-related protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BY79-1","PR:Q9BY79-1","ENSEMBL:ENSP00000481824","ENSEMBL:ENSP00000481824.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9BYJ4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase TRIM34 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BYJ4-1","PR:Q9BYJ4-1","ENSEMBL:ENSP00000402595","ENSEMBL:ENSP00000402595.2","ENSEMBL:ENSP00000422947","ENSEMBL:ENSP00000422947.1"],"information_content":100.0}
{"id":"UniProtKB:Q9BYJ9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"YTH domain-containing family protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BYJ9-1","PR:Q9BYJ9-1","ENSEMBL:ENSP00000359364","ENSEMBL:ENSP00000359364.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9BYT9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"anoctamin-3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9BYT9-1","PR:Q9BYT9-1","ENSEMBL:ENSP00000256737","ENSEMBL:ENSP00000256737.3"],"information_content":100.0}
{"id":"UniProtKB:Q9BYV1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"alanine--glyoxylate aminotransferase 2, mitochondrial isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9BYV1-1","PR:Q9BYV1-1","ENSEMBL:ENSP00000231420","ENSEMBL:ENSP00000231420.6"],"information_content":100.0}
{"id":"UniProtKB:Q9BYV2-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tripartite motif-containing protein 54 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q9BYV2-2","PR:Q9BYV2-2","ENSEMBL:ENSP00000296098","ENSEMBL:ENSP00000296098.4"],"information_content":100.0}
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{"id":"UniProtKB:Q9H2J7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sodium-dependent neutral amino acid transporter B(0)AT2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9H2J7-1","PR:Q9H2J7-1","ENSEMBL:ENSP00000266682","ENSEMBL:ENSP00000266682.5","ENSEMBL:ENSP00000505286","ENSEMBL:ENSP00000505286.1","ENSEMBL:ENSP00000505485","ENSEMBL:ENSP00000505485.1","ENSEMBL:ENSP00000505789","ENSEMBL:ENSP00000505789.1"],"information_content":100.0}
{"id":"UniProtKB:Q9H2M3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"S-methylmethionine--homocysteine S-methyltransferase BHMT2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9H2M3-1","PR:Q9H2M3-1","ENSEMBL:ENSP00000255192","ENSEMBL:ENSP00000255192.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9H2P9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"diphthine methyl ester synthase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9H2P9-1","PR:Q9H2P9-1","ENSEMBL:ENSP00000359127","ENSEMBL:ENSP00000359127.3","ENSEMBL:ENSP00000394364","ENSEMBL:ENSP00000394364.3","ENSEMBL:ENSP00000418282","ENSEMBL:ENSP00000418282.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9H2T7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ran-binding protein 17 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9H2T7-1","PR:Q9H2T7-1","ENSEMBL:ENSP00000427975","ENSEMBL:ENSP00000427975.1"],"information_content":100.0}
{"id":"UniProtKB:Q9H2U1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATP-dependent DNA/RNA helicase DHX36 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9H2U1-1","PR:Q9H2U1-1","ENSEMBL:ENSP00000417078","ENSEMBL:ENSP00000417078.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9H2V7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein spinster homolog 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9H2V7-1","PR:Q9H2V7-1","ENSEMBL:ENSP00000309945","ENSEMBL:ENSP00000309945.11"],"information_content":100.0}
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{"id":"UniProtKB:Q9H3N8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"histamine H4 receptor isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9H3N8-1","PR:Q9H3N8-1","ENSEMBL:ENSP00000256906","ENSEMBL:ENSP00000256906.4"],"information_content":100.0}
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{"id":"UniProtKB:Q9H8W5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase TRIM45 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9H8W5-1","PR:Q9H8W5-1","ENSEMBL:ENSP00000256649","ENSEMBL:ENSP00000256649.4"],"information_content":100.0}
{"id":"UniProtKB:Q9H8Y8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Golgi reassembly-stacking protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9H8Y8-1","PR:Q9H8Y8-1","ENSEMBL:ENSP00000234160","ENSEMBL:ENSP00000234160.4"],"information_content":100.0}
{"id":"UniProtKB:Q9H900-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein zwilch homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9H900-1","PR:Q9H900-1","ENSEMBL:ENSP00000311429","ENSEMBL:ENSP00000311429.5"],"information_content":100.0}
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{"id":"UniProtKB:Q9H974-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"queuine tRNA-ribosyltransferase accessory subunit 2 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q9H974-4","PR:Q9H974-4","ENSEMBL:ENSP00000420682","ENSEMBL:ENSP00000420682.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9HAC7-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"succinyl-CoA:glutarate CoA-transferase isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9HAC7-3","PR:Q9HAC7-3","ENSEMBL:ENSP00000486291","ENSEMBL:ENSP00000486291.2"],"information_content":100.0}
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{"id":"UniProtKB:Q9HAF1-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"chromatin modification-related protein MEAF6 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9HAF1-3","PR:Q9HAF1-3","ENSEMBL:ENSP00000362166","ENSEMBL:ENSP00000362166.2"],"information_content":100.0}
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{"id":"UniProtKB:Q9HAK2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"transcription factor COE2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9HAK2-1","PR:Q9HAK2-1","ENSEMBL:ENSP00000430241","ENSEMBL:ENSP00000430241.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9HAR2-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"adhesion G protein-coupled receptor L3 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q9HAR2-4","PR:Q9HAR2-4","ENSEMBL:ENSP00000422533","ENSEMBL:ENSP00000422533.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9HAT0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ropporin-1A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HAT0-1","PR:Q9HAT0-1","ENSEMBL:ENSP00000184183","ENSEMBL:ENSP00000184183.4","ENSEMBL:ENSP00000385919","ENSEMBL:ENSP00000385919.3","ENSEMBL:ENSP00000483603","ENSEMBL:ENSP00000483603.1"],"information_content":100.0}
{"id":"UniProtKB:Q9HAT1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein ERGIC-53-like isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HAT1-1","PR:Q9HAT1-1","ENSEMBL:ENSP00000310431","ENSEMBL:ENSP00000310431.5"],"information_content":100.0}
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{"id":"UniProtKB:Q9HBG7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"T-lymphocyte surface antigen Ly-9 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HBG7-1","PR:Q9HBG7-1","ENSEMBL:ENSP00000263285","ENSEMBL:ENSP00000263285.5"],"information_content":100.0}
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{"id":"UniProtKB:Q9HBI1-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"beta-parvin isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q9HBI1-2","PR:Q9HBI1-2","ENSEMBL:ENSP00000384515","ENSEMBL:ENSP00000384515.3"],"information_content":100.0}
{"id":"UniProtKB:Q9HBK9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"arsenite methyltransferase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HBK9-1","PR:Q9HBK9-1","ENSEMBL:ENSP00000358896","ENSEMBL:ENSP00000358896.3"],"information_content":100.0}
{"id":"UniProtKB:Q9HBL0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tensin-1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q9HBL0-1","PR:Q9HBL0-1","ENSEMBL:ENSP00000171887","ENSEMBL:ENSP00000171887.4"],"information_content":100.0}
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{"id":"UniProtKB:Q9HBM0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"vezatin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HBM0-1","PR:Q9HBM0-1","ENSEMBL:ENSP00000410083","ENSEMBL:ENSP00000410083.1"],"information_content":100.0}
{"id":"UniProtKB:Q9HBR0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"solute carrier family 38 member 10 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HBR0-1","PR:Q9HBR0-1","ENSEMBL:ENSP00000363891","ENSEMBL:ENSP00000363891.3"],"information_content":100.0}
{"id":"UniProtKB:Q9HBT8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"zinc finger protein 286A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HBT8-1","PR:Q9HBT8-1","ENSEMBL:ENSP00000397163","ENSEMBL:ENSP00000397163.1","ENSEMBL:ENSP00000464063","ENSEMBL:ENSP00000464063.1","ENSEMBL:ENSP00000464218","ENSEMBL:ENSP00000464218.1"],"information_content":100.0}
{"id":"UniProtKB:Q9HBU1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"homeobox protein BarH-like 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9HBU1-1","PR:Q9HBU1-1","ENSEMBL:ENSP00000253968","ENSEMBL:ENSP00000253968.5"],"information_content":100.0}
{"id":"UniProtKB:Q9HBU6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ethanolamine kinase 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HBU6-1","PR:Q9HBU6-1","ENSEMBL:ENSP00000500633","ENSEMBL:ENSP00000500633.1"],"information_content":100.0}
{"id":"UniProtKB:Q9HBU9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"popeye domain-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HBU9-1","PR:Q9HBU9-1","ENSEMBL:ENSP00000264231","ENSEMBL:ENSP00000264231.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9HBZ2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"aryl hydrocarbon receptor nuclear translocator 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HBZ2-1","PR:Q9HBZ2-1","ENSEMBL:ENSP00000307479","ENSEMBL:ENSP00000307479.4"],"information_content":100.0}
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{"id":"UniProtKB:Q9HC23-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"prokineticin-2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HC23-1","PR:Q9HC23-1","ENSEMBL:ENSP00000295619","ENSEMBL:ENSP00000295619.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9HCE7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase SMURF1 isoform Long (human)","equivalent_identifiers":["UniProtKB:Q9HCE7-1","PR:Q9HCE7-1","ENSEMBL:ENSP00000354621","ENSEMBL:ENSP00000354621.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9HCI7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase MSL2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9HCI7-1","PR:Q9HCI7-1","ENSEMBL:ENSP00000311827","ENSEMBL:ENSP00000311827.2"],"information_content":100.0}
{"id":"UniProtKB:Q9HCJ1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mineralization regulator ANKH isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9HCJ1-1","PR:Q9HCJ1-1","ENSEMBL:ENSP00000284268","ENSEMBL:ENSP00000284268.6"],"information_content":100.0}
{"id":"UniProtKB:Q9HCJ3-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ribonucleoprotein PTB-binding 2 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q9HCJ3-2","PR:Q9HCJ3-2","ENSEMBL:ENSP00000360112","ENSEMBL:ENSP00000360112.4"],"information_content":100.0}
{"id":"UniProtKB:Q9HCK4-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"roundabout homolog 2 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9HCK4-3","PR:Q9HCK4-3","ENSEMBL:ENSP00000417335","ENSEMBL:ENSP00000417335.2"],"information_content":100.0}
{"id":"UniProtKB:Q9HCK8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"chromodomain-helicase-DNA-binding protein 8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HCK8-1","PR:Q9HCK8-1","ENSEMBL:ENSP00000451601","ENSEMBL:ENSP00000451601.1","ENSEMBL:ENSP00000495070","ENSEMBL:ENSP00000495070.1","ENSEMBL:ENSP00000495240","ENSEMBL:ENSP00000495240.1"],"information_content":100.0}
{"id":"UniProtKB:Q9HCL0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protocadherin-18 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HCL0-1","PR:Q9HCL0-1","ENSEMBL:ENSP00000355082","ENSEMBL:ENSP00000355082.4"],"information_content":100.0}
{"id":"UniProtKB:Q9HCM2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"plexin-A4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HCM2-1","PR:Q9HCM2-1","ENSEMBL:ENSP00000323194","ENSEMBL:ENSP00000323194.4","ENSEMBL:ENSP00000352882","ENSEMBL:ENSP00000352882.3"],"information_content":100.0}
{"id":"UniProtKB:Q9HCM3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"UPF0606 protein KIAA1549 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HCM3-1","PR:Q9HCM3-1","ENSEMBL:ENSP00000416040","ENSEMBL:ENSP00000416040.2"],"information_content":100.0}
{"id":"UniProtKB:Q9HCM4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"band 4.1-like protein 5 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HCM4-1","PR:Q9HCM4-1","ENSEMBL:ENSP00000263713","ENSEMBL:ENSP00000263713.5"],"information_content":100.0}
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{"id":"UniProtKB:Q9HCN2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"p53-regulated apoptosis-inducing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HCN2-1","PR:Q9HCN2-1","ENSEMBL:ENSP00000432743","ENSEMBL:ENSP00000432743.1"],"information_content":100.0}
{"id":"UniProtKB:Q9HCN4-5","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"GPN-loop GTPase 1 isoform h5 (human)","equivalent_identifiers":["UniProtKB:Q9HCN4-5","PR:Q9HCN4-5","ENSEMBL:ENSP00000264718","ENSEMBL:ENSP00000264718.3","ENSEMBL:ENSP00000484680","ENSEMBL:ENSP00000484680.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9HCQ7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"pro-FMRFamide-related neuropeptide VF isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HCQ7-1","PR:Q9HCQ7-1","ENSEMBL:ENSP00000222674","ENSEMBL:ENSP00000222674.2"],"information_content":100.0}
{"id":"UniProtKB:Q9HCR9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9HCR9-1","PR:Q9HCR9-1","ENSEMBL:ENSP00000286063","ENSEMBL:ENSP00000286063.5"],"information_content":100.0}
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{"id":"UniProtKB:Q9HD67-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"unconventional myosin-X isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HD67-1","PR:Q9HD67-1","ENSEMBL:ENSP00000421280","ENSEMBL:ENSP00000421280.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9HDC9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"adipocyte plasma membrane-associated protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9HDC9-1","PR:Q9HDC9-1","ENSEMBL:ENSP00000217456","ENSEMBL:ENSP00000217456.2"],"information_content":100.0}
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{"id":"UniProtKB:Q9NNX6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"CD209 antigen isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NNX6-1","PR:Q9NNX6-1","ENSEMBL:ENSP00000315477","ENSEMBL:ENSP00000315477.6"],"information_content":100.0}
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{"id":"UniProtKB:Q9NP55-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"BPI fold-containing family A member 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NP55-1","PR:Q9NP55-1","ENSEMBL:ENSP00000346251","ENSEMBL:ENSP00000346251.4","ENSEMBL:ENSP00000364562","ENSEMBL:ENSP00000364562.4","ENSEMBL:ENSP00000364571","ENSEMBL:ENSP00000364571.2"],"information_content":100.0}
{"id":"UniProtKB:Q9NP58-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATP-binding cassette sub-family B member 6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NP58-1","PR:Q9NP58-1","ENSEMBL:ENSP00000265316","ENSEMBL:ENSP00000265316.3"],"information_content":100.0}
{"id":"UniProtKB:Q9NP61-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ADP-ribosylation factor GTPase-activating protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NP61-1","PR:Q9NP61-1","ENSEMBL:ENSP00000263245","ENSEMBL:ENSP00000263245.5"],"information_content":100.0}
{"id":"UniProtKB:Q9NP66-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"high mobility group protein 20A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NP66-1","PR:Q9NP66-1","ENSEMBL:ENSP00000336856","ENSEMBL:ENSP00000336856.4","ENSEMBL:ENSP00000371133","ENSEMBL:ENSP00000371133.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9NP71-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"carbohydrate-responsive element-binding protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NP71-1","PR:Q9NP71-1","ENSEMBL:ENSP00000320886","ENSEMBL:ENSP00000320886.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9NP74-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"palmdelphin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NP74-1","PR:Q9NP74-1","ENSEMBL:ENSP00000263174","ENSEMBL:ENSP00000263174.4"],"information_content":100.0}
{"id":"UniProtKB:Q9NP78-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ABC-type oligopeptide transporter ABCB9 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NP78-1","PR:Q9NP78-1","ENSEMBL:ENSP00000280560","ENSEMBL:ENSP00000280560.8","ENSEMBL:ENSP00000376234","ENSEMBL:ENSP00000376234.3","ENSEMBL:ENSP00000440288","ENSEMBL:ENSP00000440288.1"],"information_content":100.0}
{"id":"UniProtKB:Q9NP79-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"vacuolar protein sorting-associated protein VTA1 homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NP79-1","PR:Q9NP79-1","ENSEMBL:ENSP00000356602","ENSEMBL:ENSP00000356602.3"],"information_content":100.0}
{"id":"UniProtKB:Q9NP80-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"calcium-independent phospholipase A2-gamma isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NP80-1","PR:Q9NP80-1","ENSEMBL:ENSP00000257694","ENSEMBL:ENSP00000257694.8","ENSEMBL:ENSP00000406779","ENSEMBL:ENSP00000406779.1","ENSEMBL:ENSP00000410804","ENSEMBL:ENSP00000410804.1"],"information_content":100.0}
{"id":"UniProtKB:Q9NP81-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine--tRNA ligase, mitochondrial isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q9NP81-2","PR:Q9NP81-2","ENSEMBL:ENSP00000472847","ENSEMBL:ENSP00000472847.1","ENSEMBL:ENSP00000489453","ENSEMBL:ENSP00000489453.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9NPI6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"mRNA-decapping enzyme 1A isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NPI6-1","PR:Q9NPI6-1","ENSEMBL:ENSP00000476386","ENSEMBL:ENSP00000476386.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9NPJ4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"proline-rich nuclear receptor coactivator 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NPJ4-1","PR:Q9NPJ4-1","ENSEMBL:ENSP00000334840","ENSEMBL:ENSP00000334840.7","ENSEMBL:ENSP00000363592","ENSEMBL:ENSP00000363592.1","ENSEMBL:ENSP00000497590","ENSEMBL:ENSP00000497590.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9NPJ8-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NTF2-related export protein 2 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9NPJ8-3","PR:Q9NPJ8-3","ENSEMBL:ENSP00000218004","ENSEMBL:ENSP00000218004.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9NPQ8-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"chaperone Ric-8A isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9NPQ8-3","PR:Q9NPQ8-3","ENSEMBL:ENSP00000325941","ENSEMBL:ENSP00000325941.5"],"information_content":100.0}
{"id":"UniProtKB:Q9NPR2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"semaphorin-4B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NPR2-1","PR:Q9NPR2-1","ENSEMBL:ENSP00000332204","ENSEMBL:ENSP00000332204.6","ENSEMBL:ENSP00000394720","ENSEMBL:ENSP00000394720.2"],"information_content":100.0}
{"id":"UniProtKB:Q9NQ11-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"polyamine-transporting ATPase 13A2 isoform A (human)","equivalent_identifiers":["UniProtKB:Q9NQ11-1","PR:Q9NQ11-1","ENSEMBL:ENSP00000327214","ENSEMBL:ENSP00000327214.8"],"information_content":100.0}
{"id":"UniProtKB:Q9NQ25-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SLAM family member 7 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NQ25-1","PR:Q9NQ25-1","ENSEMBL:ENSP00000357022","ENSEMBL:ENSP00000357022.3"],"information_content":100.0}
{"id":"UniProtKB:Q9NQ29-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"putative RNA-binding protein Luc7-like 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NQ29-1","PR:Q9NQ29-1","ENSEMBL:ENSP00000293872","ENSEMBL:ENSP00000293872.8"],"information_content":100.0}
{"id":"UniProtKB:Q9NQ30-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"endothelial cell-specific molecule 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NQ30-1","PR:Q9NQ30-1","ENSEMBL:ENSP00000370812","ENSEMBL:ENSP00000370812.4"],"information_content":100.0}
{"id":"UniProtKB:Q9NQ31-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A-kinase-interacting protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NQ31-1","PR:Q9NQ31-1","ENSEMBL:ENSP00000310459","ENSEMBL:ENSP00000310459.4","ENSEMBL:ENSP00000431331","ENSEMBL:ENSP00000431331.1"],"information_content":100.0}
{"id":"UniProtKB:Q9NQ36-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"signal peptide, CUB and EGF-like domain-containing protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NQ36-1","PR:Q9NQ36-1","ENSEMBL:ENSP00000310658","ENSEMBL:ENSP00000310658.3"],"information_content":100.0}
{"id":"UniProtKB:Q9NQ38-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"serine protease inhibitor Kazal-type 5 isoform long (human)","equivalent_identifiers":["UniProtKB:Q9NQ38-3","PR:Q9NQ38-3","ENSEMBL:ENSP00000352936","ENSEMBL:ENSP00000352936.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9NQ48-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"leucine zipper transcription factor-like protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NQ48-1","PR:Q9NQ48-1","ENSEMBL:ENSP00000296135","ENSEMBL:ENSP00000296135.6"],"information_content":100.0}
{"id":"UniProtKB:Q9NQ55-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"suppressor of SWI4 1 homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NQ55-1","PR:Q9NQ55-1","ENSEMBL:ENSP00000253107","ENSEMBL:ENSP00000253107.7"],"information_content":100.0}
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{"id":"UniProtKB:Q9NQ90-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"anoctamin-2 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q9NQ90-2","PR:Q9NQ90-2","ENSEMBL:ENSP00000348453","ENSEMBL:ENSP00000348453.5"],"information_content":100.0}
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{"id":"UniProtKB:Q9NQL2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ras-related GTP-binding protein D isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NQL2-1","PR:Q9NQL2-1","ENSEMBL:ENSP00000358423","ENSEMBL:ENSP00000358423.4"],"information_content":100.0}
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{"id":"UniProtKB:Q9NQR9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glucose-6-phosphatase 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NQR9-1","PR:Q9NQR9-1","ENSEMBL:ENSP00000364512","ENSEMBL:ENSP00000364512.3","ENSEMBL:ENSP00000482583","ENSEMBL:ENSP00000482583.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9NQS7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"inner centromere protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NQS7-1","PR:Q9NQS7-1","ENSEMBL:ENSP00000378295","ENSEMBL:ENSP00000378295.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9NQT6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"fascin-3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NQT6-1","PR:Q9NQT6-1","ENSEMBL:ENSP00000265825","ENSEMBL:ENSP00000265825.5"],"information_content":100.0}
{"id":"UniProtKB:Q9NQT8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kinesin-like protein KIF13B isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NQT8-1","PR:Q9NQT8-1","ENSEMBL:ENSP00000427900","ENSEMBL:ENSP00000427900.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9NQV6-7","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"PR domain zinc finger protein 10 isoform h7 (human)","equivalent_identifiers":["UniProtKB:Q9NQV6-7","PR:Q9NQV6-7","ENSEMBL:ENSP00000351686","ENSEMBL:ENSP00000351686.5"],"information_content":100.0}
{"id":"UniProtKB:Q9NQV8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"PR domain zinc finger protein 8 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NQV8-1","PR:Q9NQV8-1","ENSEMBL:ENSP00000339764","ENSEMBL:ENSP00000339764.4","ENSEMBL:ENSP00000406998","ENSEMBL:ENSP00000406998.2","ENSEMBL:ENSP00000423985","ENSEMBL:ENSP00000423985.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9NRF2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SH2B adapter protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NRF2-1","PR:Q9NRF2-1","ENSEMBL:ENSP00000321221","ENSEMBL:ENSP00000321221.7","ENSEMBL:ENSP00000481709","ENSEMBL:ENSP00000481709.1","ENSEMBL:ENSP00000507475","ENSEMBL:ENSP00000507475.1"],"information_content":100.0}
{"id":"UniProtKB:Q9NRG1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phosphoribosyltransferase domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NRG1-1","PR:Q9NRG1-1","ENSEMBL:ENSP00000318602","ENSEMBL:ENSP00000318602.5"],"information_content":100.0}
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{"id":"UniProtKB:Q9NRZ5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"1-acyl-sn-glycerol-3-phosphate acyltransferase delta isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NRZ5-1","PR:Q9NRZ5-1","ENSEMBL:ENSP00000314036","ENSEMBL:ENSP00000314036.4"],"information_content":100.0}
{"id":"UniProtKB:Q9NRZ7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"1-acyl-sn-glycerol-3-phosphate acyltransferase gamma isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NRZ7-1","PR:Q9NRZ7-1","ENSEMBL:ENSP00000291572","ENSEMBL:ENSP00000291572.8","ENSEMBL:ENSP00000332989","ENSEMBL:ENSP00000332989.2","ENSEMBL:ENSP00000381135","ENSEMBL:ENSP00000381135.1","ENSEMBL:ENSP00000381138","ENSEMBL:ENSP00000381138.1","ENSEMBL:ENSP00000381140","ENSEMBL:ENSP00000381140.2","ENSEMBL:ENSP00000443510","ENSEMBL:ENSP00000443510.1"],"information_content":100.0}
{"id":"UniProtKB:Q9NS00-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NS00-1","PR:Q9NS00-1","ENSEMBL:ENSP00000223122","ENSEMBL:ENSP00000223122.2","ENSEMBL:ENSP00000389176","ENSEMBL:ENSP00000389176.2"],"information_content":100.0}
{"id":"UniProtKB:Q9NS15-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"latent-transforming growth factor beta-binding protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NS15-1","PR:Q9NS15-1","ENSEMBL:ENSP00000301873","ENSEMBL:ENSP00000301873.5"],"information_content":100.0}
{"id":"UniProtKB:Q9NS18-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glutaredoxin-2, mitochondrial isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q9NS18-2","PR:Q9NS18-2","ENSEMBL:ENSP00000356410","ENSEMBL:ENSP00000356410.3"],"information_content":100.0}
{"id":"UniProtKB:Q9NS23-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Ras association domain-containing protein 1 isoform D (human)","equivalent_identifiers":["UniProtKB:Q9NS23-1","PR:Q9NS23-1","ENSEMBL:ENSP00000349547","ENSEMBL:ENSP00000349547.2"],"information_content":100.0}
{"id":"UniProtKB:Q9NS26","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SPNXA_HUMAN Sperm protein associated with the nucleus on the X chromosome A (sprot)","equivalent_identifiers":["UniProtKB:Q9NS26","PR:Q9NS26","ENSEMBL:ENSP00000359549","ENSEMBL:ENSP00000359549.3","ENSEMBL:ENSP00000359550","ENSEMBL:ENSP00000359550.3","UMLS:C2985371"],"information_content":100.0}
{"id":"UniProtKB:Q9NS39-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"double-stranded RNA-specific editase B2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NS39-1","PR:Q9NS39-1","ENSEMBL:ENSP00000370713","ENSEMBL:ENSP00000370713.1"],"information_content":100.0}
{"id":"UniProtKB:Q9NS40-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"voltage-gated inwardly rectifying potassium channel KCNH7 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NS40-1","PR:Q9NS40-1","ENSEMBL:ENSP00000331727","ENSEMBL:ENSP00000331727.5"],"information_content":100.0}
{"id":"UniProtKB:Q9NS56-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"E3 ubiquitin-protein ligase Topors isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NS56-1","PR:Q9NS56-1","ENSEMBL:ENSP00000353735","ENSEMBL:ENSP00000353735.2"],"information_content":100.0}
{"id":"UniProtKB:Q9NS61-6","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A-type potassium channel modulatory protein KCNIP2 isoform h6 (human)","equivalent_identifiers":["UniProtKB:Q9NS61-6","PR:Q9NS61-6","ENSEMBL:ENSP00000420040","ENSEMBL:ENSP00000420040.1"],"information_content":100.0}
{"id":"UniProtKB:Q9NS62-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"thrombospondin type-1 domain-containing protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NS62-1","PR:Q9NS62-1","ENSEMBL:ENSP00000258613","ENSEMBL:ENSP00000258613.4"],"information_content":100.0}
{"id":"UniProtKB:Q9NS68-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"tumor necrosis factor receptor superfamily member 19 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NS68-1","PR:Q9NS68-1","ENSEMBL:ENSP00000371693","ENSEMBL:ENSP00000371693.4"],"information_content":100.0}
{"id":"UniProtKB:Q9NS73-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"MAP3K12-binding inhibitory protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NS73-1","PR:Q9NS73-1","ENSEMBL:ENSP00000399718","ENSEMBL:ENSP00000399718.2"],"information_content":100.0}
{"id":"UniProtKB:Q9NS85-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"carbonic anhydrase-related protein 10 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NS85-1","PR:Q9NS85-1","ENSEMBL:ENSP00000285273","ENSEMBL:ENSP00000285273.4","ENSEMBL:ENSP00000390666","ENSEMBL:ENSP00000390666.2","ENSEMBL:ENSP00000405388","ENSEMBL:ENSP00000405388.2"],"information_content":100.0}
{"id":"UniProtKB:Q9NS87-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kinesin-like protein KIF15 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NS87-1","PR:Q9NS87-1","ENSEMBL:ENSP00000324020","ENSEMBL:ENSP00000324020.4","ENSEMBL:ENSP00000486004","ENSEMBL:ENSP00000486004.1"],"information_content":100.0}
{"id":"UniProtKB:Q9NSA0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"solute carrier family 22 member 11 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NSA0-1","PR:Q9NSA0-1","ENSEMBL:ENSP00000301891","ENSEMBL:ENSP00000301891.4"],"information_content":100.0}
{"id":"UniProtKB:Q9NSA2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"A-type voltage-gated potassium channel KCND1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NSA2-1","PR:Q9NSA2-1","ENSEMBL:ENSP00000218176","ENSEMBL:ENSP00000218176.3","ENSEMBL:ENSP00000518044","ENSEMBL:ENSP00000518044.1"],"information_content":100.0}
{"id":"UniProtKB:Q9NSB8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"homer protein homolog 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NSB8-1","PR:Q9NSB8-1","ENSEMBL:ENSP00000305632","ENSEMBL:ENSP00000305632.8"],"information_content":100.0}
{"id":"UniProtKB:Q9NSC2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Sal-like protein 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NSC2-1","PR:Q9NSC2-1","ENSEMBL:ENSP00000251020","ENSEMBL:ENSP00000251020.4","ENSEMBL:ENSP00000407914","ENSEMBL:ENSP00000407914.2","ENSEMBL:ENSP00000509873","ENSEMBL:ENSP00000509873.1"],"information_content":100.0}
{"id":"UniProtKB:Q9NSC5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"homer protein homolog 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NSC5-1","PR:Q9NSC5-1","ENSEMBL:ENSP00000376162","ENSEMBL:ENSP00000376162.2","ENSEMBL:ENSP00000439937","ENSEMBL:ENSP00000439937.1","ENSEMBL:ENSP00000446026","ENSEMBL:ENSP00000446026.1"],"information_content":100.0}
{"id":"UniProtKB:Q9NSD5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sodium- and chloride-dependent GABA transporter 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NSD5-1","PR:Q9NSD5-1","ENSEMBL:ENSP00000339260","ENSEMBL:ENSP00000339260.4"],"information_content":100.0}
{"id":"UniProtKB:Q9NSD9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phenylalanine--tRNA ligase beta subunit isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NSD9-1","PR:Q9NSD9-1","ENSEMBL:ENSP00000281828","ENSEMBL:ENSP00000281828.6"],"information_content":100.0}
{"id":"UniProtKB:Q9NSE2-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"cytokine-inducible SH2-containing protein isoform h1C (human)","equivalent_identifiers":["UniProtKB:Q9NSE2-3","PR:Q9NSE2-3","ENSEMBL:ENSP00000409346","ENSEMBL:ENSP00000409346.2"],"information_content":100.0}
{"id":"UniProtKB:Q9NSG2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"FIGNL1-interacting regulator of recombination and mitosis isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NSG2-1","PR:Q9NSG2-1","ENSEMBL:ENSP00000286031","ENSEMBL:ENSP00000286031.6","ENSEMBL:ENSP00000352276","ENSEMBL:ENSP00000352276.4"],"information_content":100.0}
{"id":"UniProtKB:Q9NSI2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ribosome biogenesis protein SLX9 homolog isoform A (human)","equivalent_identifiers":["UniProtKB:Q9NSI2-1","PR:Q9NSI2-1","ENSEMBL:ENSP00000291634","ENSEMBL:ENSP00000291634.6"],"information_content":100.0}
{"id":"UniProtKB:Q9NSI6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"bromodomain and WD repeat-containing protein 1 isoform A (human)","equivalent_identifiers":["UniProtKB:Q9NSI6-1","PR:Q9NSI6-1","ENSEMBL:ENSP00000330753","ENSEMBL:ENSP00000330753.2"],"information_content":100.0}
{"id":"UniProtKB:Q9NSI8-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SAM domain-containing protein SAMSN-1 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9NSI8-3","PR:Q9NSI8-3","ENSEMBL:ENSP00000285670","ENSEMBL:ENSP00000285670.2"],"information_content":100.0}
{"id":"UniProtKB:Q9NSK0-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"kinesin light chain 4 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9NSK0-3","PR:Q9NSK0-3","ENSEMBL:ENSP00000259708","ENSEMBL:ENSP00000259708.3"],"information_content":100.0}
{"id":"UniProtKB:Q9NSN8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"gamma-1-syntrophin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NSN8-1","PR:Q9NSN8-1","ENSEMBL:ENSP00000429276","ENSEMBL:ENSP00000429276.1","ENSEMBL:ENSP00000493900","ENSEMBL:ENSP00000493900.1"],"information_content":100.0}
{"id":"UniProtKB:Q9NSP4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centromere protein M isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NSP4-1","PR:Q9NSP4-1","ENSEMBL:ENSP00000215980","ENSEMBL:ENSP00000215980.5"],"information_content":100.0}
{"id":"UniProtKB:Q9NST1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NST1-1","PR:Q9NST1-1","ENSEMBL:ENSP00000216180","ENSEMBL:ENSP00000216180.3"],"information_content":100.0}
{"id":"UniProtKB:Q9NSU2-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"three-prime repair exonuclease 1 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9NSU2-3","PR:Q9NSU2-3","ENSEMBL:ENSP00000486676","ENSEMBL:ENSP00000486676.2"],"information_content":100.0}
{"id":"UniProtKB:Q9NSV4-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein diaphanous homolog 3 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9NSV4-3","PR:Q9NSV4-3","ENSEMBL:ENSP00000383178","ENSEMBL:ENSP00000383178.3"],"information_content":100.0}
{"id":"UniProtKB:Q9NSY0-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"nuclear receptor-binding protein 2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NSY0-3","PR:Q9NSY0-3","ENSEMBL:ENSP00000414055","ENSEMBL:ENSP00000414055.2"],"information_content":100.0}
{"id":"UniProtKB:Q9NSY2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"StAR-related lipid transfer protein 5 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NSY2-1","PR:Q9NSY2-1","ENSEMBL:ENSP00000304032","ENSEMBL:ENSP00000304032.6"],"information_content":100.0}
{"id":"UniProtKB:Q9NT22-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"EMILIN-3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NT22-1","PR:Q9NT22-1","ENSEMBL:ENSP00000332806","ENSEMBL:ENSP00000332806.3"],"information_content":100.0}
{"id":"UniProtKB:Q9NT62-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ubiquitin-like-conjugating enzyme ATG3 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NT62-1","PR:Q9NT62-1","ENSEMBL:ENSP00000283290","ENSEMBL:ENSP00000283290.5"],"information_content":100.0}
{"id":"UniProtKB:Q9NTG7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NTG7-1","PR:Q9NTG7-1","ENSEMBL:ENSP00000372191","ENSEMBL:ENSP00000372191.4"],"information_content":100.0}
{"id":"UniProtKB:Q9NTI2-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"phospholipid-transporting ATPase IB isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9NTI2-4","PR:Q9NTI2-4","ENSEMBL:ENSP00000371070","ENSEMBL:ENSP00000371070.2"],"information_content":100.0}
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{"id":"UniProtKB:Q9NW68-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"BSD domain-containing protein 1 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9NW68-3","PR:Q9NW68-3","ENSEMBL:ENSP00000344816","ENSEMBL:ENSP00000344816.7"],"information_content":100.0}
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{"id":"UniProtKB:Q9NW81-4","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"distal membrane-arm assembly complex protein 2 isoform h4 (human)","equivalent_identifiers":["UniProtKB:Q9NW81-4","PR:Q9NW81-4","ENSEMBL:ENSP00000403910","ENSEMBL:ENSP00000403910.2"],"information_content":100.0}
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{"id":"UniProtKB:Q9NWL6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ENSP00000260952","equivalent_identifiers":["UniProtKB:Q9NWL6-1","ENSEMBL:ENSP00000260952","ENSEMBL:ENSP00000260952.4"]}
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{"id":"UniProtKB:Q9NWS8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"required for meiotic nuclear division protein 1 homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NWS8-1","PR:Q9NWS8-1","ENSEMBL:ENSP00000412708","ENSEMBL:ENSP00000412708.2","ENSEMBL:ENSP00000507984","ENSEMBL:ENSP00000507984.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9NX95-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"syntabulin isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NX95-1","PR:Q9NX95-1","ENSEMBL:ENSP00000276646","ENSEMBL:ENSP00000276646.9","ENSEMBL:ENSP00000386154","ENSEMBL:ENSP00000386154.2","ENSEMBL:ENSP00000403544","ENSEMBL:ENSP00000403544.1","ENSEMBL:ENSP00000404369","ENSEMBL:ENSP00000404369.1","ENSEMBL:ENSP00000407118","ENSEMBL:ENSP00000407118.1","ENSEMBL:ENSP00000434679","ENSEMBL:ENSP00000434679.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9NXC2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"glucose-fructose oxidoreductase domain-containing protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NXC2-1","PR:Q9NXC2-1","ENSEMBL:ENSP00000368589","ENSEMBL:ENSP00000368589.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9NXD2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"myotubularin-related protein 10 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NXD2-1","PR:Q9NXD2-1","ENSEMBL:ENSP00000402537","ENSEMBL:ENSP00000402537.1","ENSEMBL:ENSP00000484437","ENSEMBL:ENSP00000484437.1"],"information_content":100.0}
{"id":"UniProtKB:Q9NXE4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sphingomyelin phosphodiesterase 4 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NXE4-1","PR:Q9NXE4-1","ENSEMBL:ENSP00000386531","ENSEMBL:ENSP00000386531.1","ENSEMBL:ENSP00000517885","ENSEMBL:ENSP00000517885.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9NXG0-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centlein isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q9NXG0-2","PR:Q9NXG0-2","ENSEMBL:ENSP00000370021","ENSEMBL:ENSP00000370021.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9NXR8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"inhibitor of growth protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NXR8-1","PR:Q9NXR8-1","ENSEMBL:ENSP00000320566","ENSEMBL:ENSP00000320566.5"],"information_content":100.0}
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{"id":"UniProtKB:Q9NY93-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"probable ATP-dependent RNA helicase DDX56 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9NY93-1","PR:Q9NY93-1","ENSEMBL:ENSP00000258772","ENSEMBL:ENSP00000258772.5"],"information_content":100.0}
{"id":"UniProtKB:Q9NY97-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9NY97-1","PR:Q9NY97-1","ENSEMBL:ENSP00000305595","ENSEMBL:ENSP00000305595.4","ENSEMBL:ENSP00000384692","ENSEMBL:ENSP00000384692.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9NYA1-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sphingosine kinase 1 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q9NYA1-2","PR:Q9NYA1-2","ENSEMBL:ENSP00000313681","ENSEMBL:ENSP00000313681.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9P1U1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"actin-related protein 3B isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9P1U1-1","PR:Q9P1U1-1","ENSEMBL:ENSP00000256001","ENSEMBL:ENSP00000256001.8"],"information_content":100.0}
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{"id":"UniProtKB:Q9P1Y5-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"calmodulin-regulated spectrin-associated protein 3 isoform h2 (human)","equivalent_identifiers":["UniProtKB:Q9P1Y5-2","PR:Q9P1Y5-2","ENSEMBL:ENSP00000416797","ENSEMBL:ENSP00000416797.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9UFH2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dynein axonemal heavy chain 17 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9UFH2-1","PR:Q9UFH2-1","ENSEMBL:ENSP00000374490","ENSEMBL:ENSP00000374490.6"],"information_content":100.0}
{"id":"UniProtKB:Q9UG01-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"intraflagellar transport protein 172 homolog isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9UG01-1","PR:Q9UG01-1","ENSEMBL:ENSP00000260570","ENSEMBL:ENSP00000260570.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9UIF7-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"adenine DNA glycosylase isoform hAlpha-1 (human)","equivalent_identifiers":["UniProtKB:Q9UIF7-1","PR:Q9UIF7-1","ENSEMBL:ENSP00000361170","ENSEMBL:ENSP00000361170.3","ENSEMBL:ENSP00000500891","ENSEMBL:ENSP00000500891.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9UIG5-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"psoriasis susceptibility 1 candidate gene 1 protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9UIG5-1","PR:Q9UIG5-1","ENSEMBL:ENSP00000259881","ENSEMBL:ENSP00000259881.9","ENSEMBL:ENSP00000389875","ENSEMBL:ENSP00000389875.2","ENSEMBL:ENSP00000396568","ENSEMBL:ENSP00000396568.2","ENSEMBL:ENSP00000398278","ENSEMBL:ENSP00000398278.2"],"information_content":100.0}
{"id":"UniProtKB:Q9UIG8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"solute carrier organic anion transporter family member 3A1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9UIG8-1","PR:Q9UIG8-1","ENSEMBL:ENSP00000320634","ENSEMBL:ENSP00000320634.6"],"information_content":100.0}
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{"id":"UniProtKB:Q9UJC3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"protein Hook homolog 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9UJC3-1","PR:Q9UJC3-1","ENSEMBL:ENSP00000360252","ENSEMBL:ENSP00000360252.3"],"information_content":100.0}
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{"id":"UniProtKB:Q9UJT9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"F-box/LRR-repeat protein 7 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9UJT9-1","PR:Q9UJT9-1","ENSEMBL:ENSP00000423630","ENSEMBL:ENSP00000423630.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9ULQ1-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"two pore channel protein 1 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9ULQ1-3","PR:Q9ULQ1-3","ENSEMBL:ENSP00000438125","ENSEMBL:ENSP00000438125.1","ENSEMBL:ENSP00000448083","ENSEMBL:ENSP00000448083.1"],"information_content":100.0}
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{"id":"UniProtKB:Q9UMX9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"membrane-associated transporter protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9UMX9-1","PR:Q9UMX9-1","ENSEMBL:ENSP00000296589","ENSEMBL:ENSP00000296589.4"],"information_content":100.0}
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{"id":"UniProtKB:Q9UPM9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"B9 domain-containing protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9UPM9-1","PR:Q9UPM9-1","ENSEMBL:ENSP00000261499","ENSEMBL:ENSP00000261499.4"],"information_content":100.0}
{"id":"UniProtKB:Q9UPN3-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"microtubule-actin cross-linking factor 1 isoform 2 (human)","equivalent_identifiers":["UniProtKB:Q9UPN3-2","PR:Q9UPN3-2","ENSEMBL:ENSP00000354573","ENSEMBL:ENSP00000354573.2"],"information_content":100.0}
{"id":"UniProtKB:Q9UPN4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"centrosomal protein of 131 kDa isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9UPN4-1","PR:Q9UPN4-1","ENSEMBL:ENSP00000269392","ENSEMBL:ENSP00000269392.4"],"information_content":100.0}
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{"id":"UniProtKB:Q9UPP2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"IQ motif and SEC7 domain-containing protein 3 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9UPP2-1","PR:Q9UPP2-1","ENSEMBL:ENSP00000437554","ENSEMBL:ENSP00000437554.1"],"information_content":100.0}
{"id":"UniProtKB:Q9UPQ3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9UPQ3-1","PR:Q9UPQ3-1","ENSEMBL:ENSP00000307634","ENSEMBL:ENSP00000307634.7"],"information_content":100.0}
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{"id":"UniProtKB:Q9UPT5-3","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"exocyst complex component 7 isoform h3 (human)","equivalent_identifiers":["UniProtKB:Q9UPT5-3","PR:Q9UPT5-3","ENSEMBL:ENSP00000334100","ENSEMBL:ENSP00000334100.6"],"information_content":100.0}
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{"id":"UniProtKB:Q9UQ07-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"MAPK/MAK/MRK overlapping kinase isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9UQ07-1","PR:Q9UQ07-1","ENSEMBL:ENSP00000355304","ENSEMBL:ENSP00000355304.2"],"information_content":100.0}
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{"id":"UniProtKB:Q9Y2U2-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"potassium channel subfamily K member 7 isoform A (human)","equivalent_identifiers":["UniProtKB:Q9Y2U2-1","PR:Q9Y2U2-1","ENSEMBL:ENSP00000344820","ENSEMBL:ENSP00000344820.5"],"information_content":100.0}
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{"id":"UniProtKB:Q9Y6W6-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"dual specificity protein phosphatase 10 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9Y6W6-1","PR:Q9Y6W6-1","ENSEMBL:ENSP00000355866","ENSEMBL:ENSP00000355866.3"],"information_content":100.0}
{"id":"UniProtKB:Q9Y6W8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"inducible T-cell costimulator isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9Y6W8-1","PR:Q9Y6W8-1","ENSEMBL:ENSP00000319476","ENSEMBL:ENSP00000319476.6"],"information_content":92.8}
{"id":"UniProtKB:Q9Y6X0-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SET-binding protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9Y6X0-1","PR:Q9Y6X0-1","ENSEMBL:ENSP00000497406","ENSEMBL:ENSP00000497406.1","ENSEMBL:ENSP00000502995","ENSEMBL:ENSP00000502995.1","ENSEMBL:ENSP00000503094","ENSEMBL:ENSP00000503094.1","ENSEMBL:ENSP00000503656","ENSEMBL:ENSP00000503656.1","ENSEMBL:ENSP00000504398","ENSEMBL:ENSP00000504398.1"],"information_content":100.0}
{"id":"UniProtKB:Q9Y6X3-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"MAU2 chromatid cohesion factor homolog isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9Y6X3-1","PR:Q9Y6X3-1","ENSEMBL:ENSP00000262815","ENSEMBL:ENSP00000262815.9"],"information_content":100.0}
{"id":"UniProtKB:Q9Y6X4-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"soluble lamin-associated protein of 75 kDa isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9Y6X4-1","PR:Q9Y6X4-1","ENSEMBL:ENSP00000373808","ENSEMBL:ENSP00000373808.4","ENSEMBL:ENSP00000508577","ENSEMBL:ENSP00000508577.1"],"information_content":100.0}
{"id":"UniProtKB:Q9Y6X9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ATPase MORC2 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9Y6X9-1","PR:Q9Y6X9-1","ENSEMBL:ENSP00000380763","ENSEMBL:ENSP00000380763.2"],"information_content":100.0}
{"id":"UniProtKB:Q9Y6Y1-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"calmodulin-binding transcription activator 1 isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9Y6Y1-1","PR:Q9Y6Y1-1","ENSEMBL:ENSP00000306522","ENSEMBL:ENSP00000306522.6"],"information_content":100.0}
{"id":"UniProtKB:Q9Y6Y8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"SEC23-interacting protein isoform h1 (human)","equivalent_identifiers":["UniProtKB:Q9Y6Y8-1","PR:Q9Y6Y8-1","ENSEMBL:ENSP00000358071","ENSEMBL:ENSP00000358071.3"],"information_content":100.0}
{"id":"UniProtKB:Q9Y6Y9-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"lymphocyte antigen 96 isoform 1 (human)","equivalent_identifiers":["UniProtKB:Q9Y6Y9-1","PR:Q9Y6Y9-1","ENSEMBL:ENSP00000284818","ENSEMBL:ENSP00000284818.2"],"information_content":88.2}
{"id":"UniProtKB:S4R3C0","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"S4R3C0_HUMAN Immunoglobulin heavy variable 3/OR16-17 (non-functional) (Fragment) (trembl)","equivalent_identifiers":["UniProtKB:S4R3C0","ENSEMBL:ENSP00000474135","ENSEMBL:ENSP00000474135.1"]}
{"id":"UniProtKB:U3KQS2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"U3KQS2_HUMAN Solute carrier family 37 member 4 (trembl)","equivalent_identifiers":["UniProtKB:U3KQS2","ENSEMBL:ENSP00000476176","ENSEMBL:ENSP00000476176.2"]}
{"id":"UniProtKB:W5XKT8-1","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"sperm acrosome membrane-associated protein 6 isoform h1 (human)","equivalent_identifiers":["UniProtKB:W5XKT8-1","PR:W5XKT8-1","ENSEMBL:ENSP00000490829","ENSEMBL:ENSP00000490829.1"],"information_content":100.0}
{"id":"UniProtKB:X6R8D5-2","category":["biolink:Protein","biolink:GeneProductMixin","biolink:Polypeptide","biolink:ChemicalEntityOrGeneOrGeneProduct","biolink:ChemicalEntityOrProteinOrPolypeptide","biolink:BiologicalEntity","biolink:ThingWithTaxon","biolink:NamedThing","biolink:GeneOrGeneProduct","biolink:MacromolecularMachineMixin"],"name":"ENSP00000362054","equivalent_identifiers":["UniProtKB:X6R8D5-2","ENSEMBL:ENSP00000362054","ENSEMBL:ENSP00000362054.3"]}