nicotinic acetylcholine receptor agonist


Human blood group H type 1 trisaccharide


EC 3.5.1.98 (histone deacetylase) inhibitor


glucagon-like peptide-1 receptor agonist


Phosphoaminophosphonic acid guanylate ester


Varicella zoster vaccine (live/attenuated)


Influenza B virus B/Phuket/3073/2013 antigen (UV, formaldehyde inactivated)


Japanese encephalitis virus strain sa 14-14-2 antigen (formaldehyde inactivated)


Meningococcal polysaccharide vaccine group A


Vibrio cholerae CVD 103-HgR strain live antigen


Covid-19 Coronavirus Artificial Antigen Presenting Cell Vaccine


Allogenic bone marrow-derived mesenchymal stem cells


Autosomal recessive inheritance

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


Abnormal posterior cranial fossa morphology


Abnormality of extrapyramidal motor function


Abnormality of the autonomic nervous system


Decreased circulating renin concentration


Disproportionate short-limb short stature


Abnormal curvature of the vertebral column


Increased circulating immunoglobulin concentration


Abnormal morphology of the vestibule of the inner ear


Abnormal cardiovascular system morphology


disease

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


inherited bleeding disorder, platelet-type


immunodeficiency-centromeric instability-facial anomalies syndrome


keratosis follicularis spinulosa decalvans


muscular dystrophy-dystroglycanopathy, type A


congenital myasthenic syndrome with tubular aggregates


striatal degeneration, autosomal dominant


Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type


digestive system neuroendocrine tumor, grade 1/2


mature T-cell and NK-cell non-Hodgkin lymphoma


autosomal dominant polycystic liver disease


secondary progressive multiple sclerosis


progressive relapsing multiple sclerosis


arteritic anterior ischemic optic neuropathy


non-arteritic anterior ischemic optic neuropathy


inclusion body myopathy with Paget disease of bone and frontotemporal dementia


small intestinal neuroendocrine tumor G1


autoimmune disorder of central nervous system


autoimmune disorder of peripheral nervous system


primary cutaneous T-cell non-Hodgkin lymphoma


progesterone-receptor positive breast cancer


progesterone-receptor negative breast cancer


benign female reproductive system neoplasm


central nervous system primitive neuroectodermal neoplasm


combined oxidative phosphorylation deficiency


anomalous left coronary artery from the pulmonary artery


myopathy, lactic acidosis, and sideroblastic anemia


T-cell childhood acute lymphocytic leukemia


B-cell childhood acute lymphoblastic leukemia


relapsed/refractory diffuse large B-cell lymphoma


agenesis of the corpus callosum with peripheral neuropathy


vitamin K deficiency hemorrhagic disease


secondary hyperparathyroidism of renal origin


respiratory syncytial virus infectious disease


thrombocytopenia due to immune destruction


malignant pineal area germ cell neoplasm


cutaneous undifferentiated pleomorphic sarcoma


hematopoietic and lymphoid system neoplasm


mixed epithelial stromal tumor of the kidney


tenosynovial giant cell tumor, localized type


breast fibrocystic change, proliferative type


undifferentiated high grade pleomorphic sarcoma of bone


acinar prostate adenocarcinoma, signet ring variant


childhood central nervous system primitive neuroectodermal neoplasm


bile duct mucinous cystic neoplasm with an associated invasive carcinoma


autoimmune disorder of the nervous system


small intestine neuroendocrine tumor, well differentiated, low or intermediate grade


multilocular clear cell renal cell carcinoma


mucinous tubular and spindle renal cell carcinoma


thymic large cell neuroendocrine carcinoma


intracranial primitive neuroectodermal tumor


supratentorial primitive neuroectodermal tumor


central nervous system melanocytic neoplasm


adult central nervous system germ cell tumor


sarcomatoid squamous cell skin carcinoma


nasopharyngeal type undifferentiated carcinoma


extragonadal nonseminomatous germ cell tumor


hereditary breast ovarian cancer syndrome


non-functioning pituitary gland neoplasm


B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma


well differentiated papillary mesothelioma


juvenile type testicular granulosa cell tumor


childhood central nervous system germ cell tumor


hereditary papillary renal cell carcinoma


childhood cerebellar astrocytic neoplasm


chronic lymphocytic leukemia/small lymphocytic lymphoma


infiltrating bladder urothelial carcinoma


eosinophilic variant of chromophobe renal cell carcinoma


pulmonary large cell neuroendocrine carcinoma


diffuse infiltrative lymphocytosis syndrome


synchronous multifocal osteogenic sarcoma


colon small cell neuroendocrine carcinoma


inborn mitochondrial metabolism disorder


urinary bladder small cell neuroendocrine carcinoma


esophageal small cell neuroendocrine carcinoma


lung combined large cell neuroendocrine carcinoma


cerebral primitive neuroectodermal tumor


monoclonal gammopathy of uncertain significance


chronic lymphoproliferative disorder of NK-cells


mixed epithelial/mesenchymal metaplastic breast carcinoma


osteosarcoma arising in bone Paget disease


pancreatic intraductal papillary-mucinous neoplasm


pulmonary type ovarian small cell carcinoma


hypercalcemic type ovarian small cell carcinoma


non-functional pancreatic neuroendocrine tumor


pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia


sarcomatoid penile squamous cell carcinoma


duodenal gastrin-producing neuroendocrine tumor


childhood central nervous system germinoma


epithelioid malignant peripheral nerve sheath tumor


Hodgkin's lymphoma, lymphocytic-histiocytic predominance


Hodgkin's lymphoma, lymphocytic depletion


chronic intestinal vascular insufficiency


atypical chronic myeloid leukemia, BCR-ABL1 negative


nodular sclerosis classical Hodgkin lymphoma


severe nonproliferative diabetic retinopathy


autosomal dominant polycystic kidney disease


liver inflammatory myofibroblastic tumor


inborn disorder of amino acid metabolism


peripheral T-cell lymphoma, not otherwise specified


acute myeloid leukemia with minimal differentiation


acute myeloblastic leukemia without maturation


myelodysplastic syndrome with single lineage dysplasia


attention deficit hyperactivity disorder, inattentive type


inherited focal segmental glomerulosclerosis


myalgic encephalomeyelitis/chronic fatigue syndrome


carbon monoxide-induced delayed encephalopathy


congenital disorder of glycosylation type I


congenital disorder of glycosylation type II


hantavirus hemorrhagic fever with renal syndrome


Trichomonas vaginitis urogenital infection


AIDS-related primary central nervous system lymphoma


bladder inflammatory myofibroblastic tumor


breast mucosa-associated lymphoid tissue lymphoma


central nervous system anaplastic large cell lymphoma


cervical large cell neuroendocrine carcinoma


colon mucosa-associated lymphoid tissue lymphoma


colorectal diffuse large B-cell lymphoma


digestive system mixed adenoneuroendocrine carcinoma


gallbladder small cell neuroendocrine carcinoma


gastric mucosa-associated lymphoid tissue lymphoma


gastric small cell neuroendocrine carcinoma


growth hormone-producing pituitary gland adenoma


low grade fibromyxoid sarcoma with giant collagen rosettes


major salivary gland mucoepidermoid carcinoma


malignant adrenal gland pheochromocytoma


maxillary sinus adenoid cystic carcinoma


medullomyoblastoma with myogenic differentiation


mixed lobular and ductal breast carcinoma


mixed somatotroph-lactotroph pituitary gland adenoma


ocular melanoma with extraocular extension


ovarian endometrioid adenocarcinoma with squamous differentiation


parotid gland carcinoma ex pleomorphic adenoma


pineal parenchymal tumor of intermediate differentiation


poorly differentiated thyroid gland carcinoma


primary cutaneous diffuse large B-cell lymphoma, Leg type


primary intraosseous squamous cell carcinoma


prolactin-producing pituitary gland carcinoma


renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions


salivary gland basal cell adenocarcinoma


salivary gland carcinoma ex pleomorphic adenoma


sinus histiocytosis with massive lymphadenopathy


small intestinal mucosa-associated lymphoid tissue lymphoma


spinal cord primitive neuroectodermal tumor


testicular non-seminomatous germ cell tumor


thyroid gland diffuse large B-cell lymphoma


thyroid gland mucosa-associated lymphoid tissue lymphoma


thyroid gland spindle cell tumor with thymus-like differentiation


thyroid gland undifferentiated (anaplastic) carcinoma


congenital nonspherocytic hemolytic anemia


estrogen-receptor positive breast cancer


estrogen-receptor negative breast cancer


chronic inflammatory demyelinating polyradiculoneuropathy


thyroid gland papillary and follicular carcinoma


Yersinia pseudotuberculosis infectious disease


punctate palmoplantar keratoderma type III


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency


hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism


amyotrophic lateral sclerosis-parkinsonism-dementia complex


frontotemporal dementia and/or amyotrophic lateral sclerosis 1


congenital dyserythropoietic anemia type 3


ankyloblepharon-ectodermal defects-cleft lip/palate syndrome


diffuse idiopathic skeletal hyperostosis


arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome


helicoid peripapillary chorioretinal degeneration


self-limited epilepsy with centrotemporal spikes


coloboma of macula-brachydactyly type B syndrome


posterior polymorphous corneal dystrophy 1


autosomal dominant deafness - onychodystrophy syndrome


maturity-onset diabetes of the young type 1


maturity-onset diabetes of the young type 2


early-onset generalized limb-onset dystonia


Ehlers-Danlos syndrome, hypermobility type


Ehlers-Danlos syndrome, arthrochalasia type


Ehlers-Danlos syndrome, spondylodysplastic type


epidermolysis bullosa simplex 1C, localized


multiple self-healing squamous epithelioma


primary familial polycythemia due to EPO receptor mutation


congenital fibrosis of extraocular muscles


hereditary diffuse gastric adenocarcinoma


goiter, multinodular 1, with or without Sertoli-Leydig cell tumors


alpha thalassemia-intellectual disability syndrome type 1


TNF receptor 1-associated periodic fever syndrome


spondyloepiphyseal dysplasia with congenital joint dislocations


cholesterol-ester transfer protein deficiency


selective pituitary resistance to thyroid hormone


periodic fever, immunodeficiency, and thrombocytopenia syndrome


hereditary leiomyomatosis and renal cell cancer


Noonan syndrome with multiple lentigines


familial partial lipodystrophy, Dunnigan type


microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability


benign concentric annular macular dystrophy


melanoma, cutaneous malignant, susceptibility to, 2


melanoma and neural system tumor syndrome


intellectual disability, autosomal dominant 1


metaphyseal chondrodysplasia, Jansen type


autosomal dominant progressive external ophthalmoplegia


facioscapulohumeral muscular dystrophy 1


facioscapulohumeral muscular dystrophy 2


autosomal dominant centronuclear myopathy


congenital myopathy 2a, typical, autosomal dominant


familial juvenile hyperuricemic nephropathy type 1


ceroid lipofuscinosis, neuronal, 4 (Kufs type)


hereditary neuropathy with liability to pressure palsies


parietal foramina with cleidocranial dysplasia


adult-onset autosomal dominant demyelinating leukodystrophy


pigmented paravenous retinochoroidal atrophy


isolated growth hormone deficiency type II


autosomal dominant medullary cystic kidney disease with or without hyperuricemia


juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome


punctate palmoplantar keratoderma type 2


progeria-short stature-pigmented nevi syndrome


autosomal dominant distal renal tubular acidosis


scapuloperoneal spinal muscular atrophy, autosomal dominant


spondyloepimetaphyseal dysplasia, Strudwick type


spondylometaphyseal dysplasia, Kozlowski type


stapes ankylosis with broad thumbs and toes


holoprosencephaly-radial heart renal anomalies syndrome


short stature-wormian bones-dextrocardia syndrome


brachydactyly-elbow wrist dysplasia syndrome


retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations


autosomal dominant hypophosphatemic rickets


acromesomelic dysplasia 2C, Hunter-Thompson type


congenital isolated adrenocorticotropic hormone deficiency


medium chain acyl-CoA dehydrogenase deficiency


short chain acyl-CoA dehydrogenase deficiency


very long chain acyl-CoA dehydrogenase deficiency


Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis


congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency


congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency


congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency


amyotrophic lateral sclerosis type 2, juvenile


juvenile amyotrophic lateral sclerosis with dementia


aniridia-cerebellar ataxia-intellectual disability syndrome


progressive pseudorheumatoid arthropathy of childhood


ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia


Bietti crystalline corneoretinal dystrophy


microcephalic osteodysplastic primordial dwarfism type II


progressive familial intrahepatic cholestasis type 1


PMM2-congenital disorder of glycosylation


MGAT2-congenital disorder of glycosylation


systemic primary carnitine deficiency disease


peroxisome biogenesis disorder 1A (Zellweger)


rhizomelic chondrodysplasia punctata type 1


corneal dystrophy-perceptive deafness syndrome


congenital hereditary endothelial dystrophy of cornea


generalized resistance to thyroid hormone


Cushing syndrome due to macronodular adrenal hyperplasia


autosomal recessive nonsyndromic hearing loss 1A


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly


cerebellar ataxia, intellectual disability, and dysequilibrium


congenital dyserythropoietic anemia type 2


cleft lip/palate-ectodermal dysplasia syndrome


recessive dystrophic epidermolysis bullosa


epidermolysis bullosa simplex 5B, with muscular dystrophy


junctional epidermolysis bullosa with pyloric atresia


celiac disease-epilepsy-cerebral calcification syndrome


glycogen storage disease due to GLUT2 deficiency


hypogonadotropic hypogonadism 24 without anosmia


multiple acyl-CoA dehydrogenase deficiency


glycogen storage disease due to glucose-6-phosphatase deficiency type IA


glycogen storage disease due to glycogen branching enzyme deficiency


anti-glomerular basement membrane disease


hepatic veno-occlusive disease-immunodeficiency syndrome


homocystinuria due to methylene tetrahydrofolate reductase deficiency


multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome


autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius


encephalopathy due to hydroxykynureninuria


carbamoyl phosphate synthetase I deficiency disease


hyperammonemia due to N-acetylglutamate synthase deficiency


neonatal severe primary hyperparathyroidism


autoimmune polyendocrine syndrome type 1


glycogen storage disorder due to hepatic glycogen synthase deficiency


hereditary hypophosphatemic rickets with hypercalciuria


congenital hypothalamic hamartoma syndrome


autosomal recessive congenital ichthyosis 2


autosomal recessive congenital ichthyosis 4B


combined immunodeficiency due to DOCK8 deficiency


succinyl-CoA:3-ketoacid CoA transferase deficiency


pyruvate dehydrogenase E3-binding protein deficiency


severe early-childhood-onset retinal dystrophy


thiamine-responsive megaloblastic anemia syndrome


blepharophimosis - intellectual disability syndrome, Ohdo type


spondylometaphyseal dysplasia, Sedaghatian type


methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency


autosomal recessive limb-girdle muscular dystrophy type 2A


autosomal recessive limb-girdle muscular dystrophy type 2B


autosomal recessive limb-girdle muscular dystrophy type 2C


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4


congenital muscular dystrophy-infantile cataract-hypogonadism syndrome


autosomal recessive limb-girdle muscular dystrophy type 2H


carnitine palmitoyl transferase 1A deficiency


hereditary myopathy with lactic acidosis due to ISCU deficiency


congenital fiber-type disproportion myopathy


congenital nephrotic syndrome, Finnish type


mitochondrial DNA depletion syndrome 6 (hepatocerebral type)


congenital stationary night blindness 1B


multicentric osteolysis, nodulosis, and arthropathy


chronic recurrent multifocal osteomyelitis


hyperimmunoglobulinemia D with periodic fever


autosomal recessive polycystic kidney disease


short-rib thoracic dysplasia 6 with or without polydactyly


pterin-4 alpha-carbinolamine dehydratase 1 deficiency


autosomal recessive inherited pseudoxanthoma elasticum


autosomal recessive multiple pterygium syndrome


alveolar capillary dysplasia with misalignment of pulmonary veins


hemolytic anemia due to pyrimidine 5' nucleotidase deficiency


short-rib thoracic dysplasia 9 with or without polydactyly


respiratory distress syndrome in premature infants


familial hemophagocytic lymphohistiocytosis type 1


congenital generalized lipodystrophy type 2


free sialic acid storage disease, infantile form


mitochondrial DNA depletion syndrome 7 (hepatocerebral type)


spondyloepimetaphyseal dysplasia, sponastrime type


familial infantile bilateral striatal necrosis


succinic semialdehyde dehydrogenase deficiency


congenital thrombotic thrombocytopenic purpura


thyroid hormone resistance, generalized, autosomal recessive


isolated thyroid-stimulating hormone deficiency


isolated thyrotropin-releasing hormone deficiency


hypothyroidism due to TSH receptor mutations


trichomegaly-retina pigmentary degeneration-dwarfism syndrome


congenital bilateral aplasia of vas deferens from CFTR mutation


autosomal recessive spondylocostal dysostosis


methylmalonic aciduria and homocystinuria type cblF


methylmalonic aciduria and homocystinuria type cblC


familial isolated deficiency of vitamin E


X-linked intellectual disability-psychosis-macroorchidism syndrome


developmental and epileptic encephalopathy, 9


syndromic X-linked intellectual disability Lubs type


syndromic X-linked intellectual disability Siderius type


ectodermal dysplasia and immune deficiency


hypoxanthine guanine phosphoribosyltransferase partial deficiency


X-linked intellectual disability, Cabezas type


osteopathia striata with cranial sclerosis


T-B+ severe combined immunodeficiency due to gamma chain deficiency


syndromic X-linked intellectual disability Hedera type


X-linked distal spinal muscular atrophy type 3


nephrogenic syndrome of inappropriate antidiuresis


fragile X-associated tremor/ataxia syndrome


X-linked lymphoproliferative disease due to XIAP deficiency


ocular albinism with late-onset sensorineural deafness


X-linked myopathy with postural muscle atrophy


syndactyly-telecanthus-anogenital and renal malformations syndrome


X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia


X-linked central congenital hypothyroidism with late-onset testicular enlargement


neurodegeneration with brain iron accumulation 5


SLC35A2-congenital disorder of glycosylation


intellectual disability, X-linked, syndromic, Bain type


X-linked sideroblastic anemia with ataxia


infantile-onset X-linked spinal muscular atrophy


Charcot-Marie-Tooth disease X-linked dominant 1


syndromic X-linked intellectual disability 5


X-linked mixed hearing loss with perilymphatic gusher


X-linked hypohidrotic ectodermal dysplasia


X-linked hydrocephalus with stenosis of the aqueduct of Sylvius


X-linked congenital generalized hypertrichosis


isolated growth hormone deficiency type III


familial isolated hypoparathyroidism due to agenesis of parathyroid gland


X-linked dominant hypophosphatemic rickets


X-linked intellectual disability with marfanoid habitus


syndromic X-linked intellectual disability Snyder type


skeletal dysplasia-intellectual disability syndrome


X-linked Emery-Dreifuss muscular dystrophy


X-linked myopathy with excessive autophagy


Charcot-Marie-Tooth disease X-linked recessive 4


Charcot-Marie-Tooth disease X-linked recessive 5


pyruvate dehydrogenase E1-alpha deficiency


trigonocephaly-short stature-developmental delay syndrome


maternally-inherited diabetes and deafness


autosomal recessive nonsyndromic hearing loss 2


rhizomelic chondrodysplasia punctata type 3


multiple cutaneous and mucosal venous malformations


autosomal recessive nonsyndromic hearing loss 3


autosomal dominant epilepsy with auditory features


polycystic kidney disease 3 with or without polycystic liver disease


progressive bifocal chorioretinal atrophy


autosomal recessive nonsyndromic hearing loss 4


low phospholipid associated cholelithiasis


hereditary hyperferritinemia with congenital cataracts


diffuse nonepidermolytic palmoplantar keratoderma


autosomal dominant nonsyndromic hearing loss 6


autosomal recessive nonsyndromic hearing loss 7


autosomal dominant nonsyndromic hearing loss 5


autosomal recessive nonsyndromic hearing loss 9


autosomal recessive nonsyndromic hearing loss 8


ALG3-congenital disorder of glycosylation


autosomal dominant nonsyndromic hearing loss 10


intellectual disability-sparse hair-brachydactyly syndrome


autosomal dominant nonsyndromic hearing loss 9


autosomal recessive nonsyndromic hearing loss 12


hereditary thrombocytopenia and hematologic cancer predisposition syndrome


congenital hypotrichosis with juvenile macular dystrophy


T-cell immunodeficiency, congenital alopecia, and nail dystrophy


deaf blind hypopigmentation syndrome, Yemenite type


Ehlers-Danlos syndrome, musculocontractural type


progressive familial intrahepatic cholestasis type 2


autosomal recessive nonsyndromic hearing loss 15


autosomal recessive limb-girdle muscular dystrophy type 2G


infantile convulsions and choreoathetosis


spondyloepimetaphyseal dysplasia, Missouri type


progressive familial intrahepatic cholestasis type 3


autosomal recessive congenital ichthyosis 11


autosomal dominant nonsyndromic hearing loss 15


short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome


ossification of the posterior longitudinal ligament of the spine


megaconial type congenital muscular dystrophy


MPI-congenital disorder of glycosylation


renal tubular acidosis, distal, 3, with or without sensorineural hearing loss


acromesomelic dysplasia 1, Maroteaux type


ALG6-congenital disorder of glycosylation 1C


spondyloepimetaphyseal dysplasia with multiple dislocations


familial hemophagocytic lymphohistiocytosis 4


familial hemophagocytic lymphohistiocytosis 2


autosomal dominant nonsyndromic hearing loss 17


autosomal recessive nonsyndromic hearing loss 21


myopathy, myofibrillar, 9, with early respiratory failure


autosomal recessive nonsyndromic hearing loss 16


blepharophimosis - intellectual disability syndrome, SBBYS type


autoimmune lymphoproliferative syndrome type 2A


intervertebral disk degenerative disorder


megalencephalic leukoencephalopathy with subcortical cysts


autosomal dominant cerebellar ataxia, deafness and narcolepsy


dystrophic epidermolysis bullosa pruriginosa


congenital cataracts-facial dysmorphism-neuropathy syndrome


familial encephalopathy with neuroserpin inclusion bodies


generalized epilepsy with febrile seizures plus, type 1


autosomal recessive proximal renal tubular acidosis


autosomal recessive limb-girdle muscular dystrophy type 2E


ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3


autosomal recessive distal spinal muscular atrophy 1


PPARG-related familial partial lipodystrophy


epidermolysis bullosa simplex due to plakophilin deficiency


catecholaminergic polymorphic ventricular tachycardia 1


Dianzani autoimmune lymphoproliferative disease


autosomal recessive nonsyndromic hearing loss 26


radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome


arrhythmogenic cardiomyopathy with wooly hair and keratoderma


multiple mitochondrial dysfunctions syndrome 1


neonatal intrahepatic cholestasis due to citrin deficiency


MOGS-congenital disorder of glycosylation


Charcot-Marie-Tooth disease axonal type 2C


autosomal dominant nonsyndromic hearing loss 22


muscular dystrophy-dystroglycanopathy type B5


autosomal dominant nonsyndromic hearing loss 36


distal myopathy with anterior tibial onset


primary intraosseous venous malformation


autosomal recessive nonsyndromic hearing loss 31


myasthenia gravis with thymus hyperplasia


autosomal recessive nonsyndromic hearing loss 30


autosomal recessive limb-girdle muscular dystrophy type 2I


epilepsy, partial, with pericentral spikes


infantile-onset ascending hereditary spastic paralysis


hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration


autoimmune lymphoproliferative syndrome type 2B


horizontal gaze palsy with progressive scoliosis


isolated focal cortical dysplasia type II


autosomal dominant nonsyndromic hearing loss 44


sensory ataxic neuropathy, dysarthria, and ophthalmoparesis


epidermolysis bullosa simplex superficialis


neonatal ichthyosis-sclerosing cholangitis syndrome


Curly hair - acral keratoderma - caries syndrome


tubulointerstitial nephritis and uveitis syndrome


Noonan syndrome-like disorder with loose anagen hair


Charcot-Marie-Tooth disease axonal type 2H


congenital merosin-deficient muscular dystrophy 1A


ALG2-congenital disorder of glycosylation


microphthalmia with brain and digit anomalies


familial acute necrotizing encephalopathy


DPAGT1-congenital disorder of glycosylation


autosomal recessive limb-girdle muscular dystrophy type 2D


ALG8-congenital disorder of glycosylation


paternal uniparental disomy of chromosome 14


adult-onset foveomacular vitelliform dystrophy


chronic myelogenous leukemia, BCR-ABL1 positive


Charcot-Marie-Tooth disease dominant intermediate C


capillary malformation-arteriovenous malformation syndrome


autoimmune disease, susceptibility to, 2


autosomal recessive nonsyndromic hearing loss 35


choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome


congenital generalized lipodystrophy type 1


familial partial lipodystrophy, Kobberling type


mandibuloacral dysplasia with type B lipodystrophy


autosomal dominant nonsyndromic hearing loss 28


aromatic L-amino acid decarboxylase deficiency


hereditary sensory and autonomic neuropathy type 5


growth delay due to insulin-like growth factor type 1 deficiency


COG7-congenital disorder of glycosylation


congenital disorder of glycosylation type 1E


muscular dystrophy-dystroglycanopathy type B6


hereditary cryohydrocytosis with reduced stomatin


familial hemophagocytic lymphohistiocytosis 3


spondylometaphyseal dysplasia-cone-rod dystrophy syndrome


mitochondrial trifunctional protein deficiency


long chain 3-hydroxyacyl-CoA dehydrogenase deficiency


permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome


autosomal dominant auditory neuropathy 1


posterior polymorphous corneal dystrophy 3


spondyloepiphyseal dysplasia with metatarsal shortening


congenital reticular ichthyosiform erythroderma


MPDU1-congenital disorder of glycosylation


autosomal recessive spinocerebellar ataxia 7


rhabdoid tumor predisposition syndrome 1


autoimmune disease, susceptibility to, 4


mesoaxial synostotic syndactyly with phalangeal reduction


autosomal recessive nonsyndromic hearing loss 23


autosomal recessive nonsyndromic hearing loss 42


autosomal recessive nonsyndromic hearing loss 53


obesity due to pro-opiomelanocortin deficiency


maturity-onset diabetes of the young type 8


autosomal recessive nonsyndromic hearing loss 28


neuronal ceroid lipofuscinosis 8 northern epilepsy variant


cortical dysplasia-focal epilepsy syndrome


autosomal recessive nonsyndromic hearing loss 49


neonatal diabetes mellitus with congenital hypothyroidism


autosomal recessive nonsyndromic hearing loss 59


autosomal recessive nonsyndromic hearing loss 67


cone dystrophy with supernormal rod response


congenital stationary night blindness autosomal dominant 3


normophosphatemic familial tumoral calcinosis


deafness with labyrinthine aplasia, microtia, and microdontia


body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency


autoimmune pulmonary alveolar proteinosis


hereditary pulmonary alveolar proteinosis


neuronopathy, distal hereditary motor, autosomal recessive 4


polyhydramnios, megalencephaly, and symptomatic epilepsy


craniofacial dysplasia - osteopenia syndrome


COG8-congenital disorder of glycosylation


restless legs syndrome, susceptibility to, 6


early-onset myopathy with fatal cardiomyopathy


autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome


lethal arthrogryposis-anterior horn cell disease syndrome


catecholaminergic polymorphic ventricular tachycardia 2


autosomal recessive ataxia due to ubiquinone deficiency


epidermolysis bullosa simplex 5C, with pyloric atresia


Crouzon syndrome-acanthosis nigricans syndrome


congenital generalized lipodystrophy type 3


multiple sclerosis, susceptibility to, 2


multiple sclerosis, susceptibility to, 3


multiple sclerosis, susceptibility to, 4


intellectual disability, autosomal dominant 5


dopa-responsive dystonia due to sepiapterin reductase deficiency


porphyria due to ALA dehydratase deficiency


isolated growth hormone deficiency type IB


sterile multifocal osteomyelitis with periostitis and pustulosis


chronic thromboembolic pulmonary hypertension


subepithelial mucinous corneal dystrophy


adenosine monophosphate deaminase deficiency


glycogen storage disease due to lactate dehydrogenase M-subunit deficiency


developmental and epileptic encephalopathy, 39


cystic leukoencephalopathy without megalencephaly


autosomal recessive Parkinson disease 14


combined pituitary hormone deficiencies, genetic form


Nijmegen breakage syndrome-like disorder


autosomal recessive nonsyndromic hearing loss 77


familial juvenile hyperuricemic nephropathy type 2


familial hemophagocytic lymphohistiocytosis 5


purine nucleoside phosphorylase deficiency


polymicrogyria with optic nerve hypoplasia


congenital muscular dystrophy due to LMNA mutation


congenital diarrhea 5 with tufting enteropathy


metabolic dysfunction-associated steatotic liver disease


rhabdoid tumor predisposition syndrome 2


congenital generalized lipodystrophy type 4


congenital plasminogen activator inhibitor type 1 deficiency


microcephaly, seizures, and developmental delay


frontonasal dysplasia with alopecia and genital anomaly


myeloid neoplasm associated with FGFR1 rearrangement


autosomal dominant nonsyndromic hearing loss 51


myopathy, lactic acidosis, and sideroblastic anemia 2


congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency


ectodermal dysplasia-cutaneous syndactyly syndrome


COG5-congenital disorder of glycosylation


ALG11-congenital disorder of glycosylation


congenital dyserythropoietic anemia type 4


chromosome 17q11.2 deletion syndrome, 1.4Mb


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome


autosomal recessive nonsyndromic hearing loss 74


developmental and epileptic encephalopathy, 11


autosomal recessive spinocerebellar ataxia 10


Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency


autosomal recessive limb-girdle muscular dystrophy type 2P


multisystemic smooth muscle dysfunction syndrome


constitutional megaloblastic anemia with severe neurologic disease


hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


Hirschsprung disease, cardiac defects, and autonomic dysfunction


frontotemporal dementia and/or amyotrophic lateral sclerosis 6


autosomal recessive nonsyndromic hearing loss 29


chondrodysplasia with joint dislocations, gPAPP type


multiple congenital anomalies-hypotonia-seizures syndrome 1


recurrent infections associated with rare immunoglobulin isotypes deficiency


monocytopenia with susceptibility to infections


hypertelorism-preauricular sinus-punctual pits-deafness syndrome


combined malonic and methylmalonic acidemia


multiple mitochondrial dysfunctions syndrome 2


autosomal recessive spinocerebellar ataxia 12


Charcot-Marie-Tooth disease axonal type 2P


hypertrophic osteoarthropathy, primary, autosomal recessive, 2


familial cold autoinflammatory syndrome 3


autoimmune lymphoproliferative syndrome type 4


leukoencephalopathy with calcifications and cysts


autosomal dominant nonsyndromic hearing loss 4B


hereditary sensory and autonomic neuropathy type 6


3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome


short stature-optic atrophy-Pelger-Huët anomaly syndrome


short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome


autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


sinoatrial node dysfunction and deafness


hypogonadotropic hypogonadism 16 with or without anosmia


PGM1-congenital disorder of glycosylation


branched-chain keto acid dehydrogenase kinase deficiency


obesity due to congenital leptin deficiency


microcephalic primordial dwarfism, Alazami type


facial dysmorphism-immunodeficiency-livedo-short stature syndrome


mitochondrial complex III deficiency nuclear type 5


autosomal recessive limb-girdle muscular dystrophy type 2T


developmental and epileptic encephalopathy 94


autosomal recessive spinocerebellar ataxia 14


severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome


severe dermatitis-multiple allergies-metabolic wasting syndrome


hereditary sensory and autonomic neuropathy type 7


congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome


combined oxidative phosphorylation deficiency 19


combined immunodeficiency due to CD3gamma deficiency


neurodegeneration with brain iron accumulation 6


hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


autosomal recessive spinocerebellar ataxia 16


intellectual disability, autosomal dominant 24


AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome


autism spectrum disorder due to AUTS2 deficiency


autosomal recessive nonsyndromic hearing loss 101


STING-associated vasculopathy with onset in infancy


ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome


cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome


nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome


progressive encephalopathy with leukodystrophy due to DECR deficiency


congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome


autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency


macular dystrophy with central cone involvement


progeroid features-hepatocellular carcinoma predisposition syndrome


chronic atrial and intestinal dysrhythmia


congenital contractures of the limbs and face, hypotonia, and developmental delay


autosomal recessive spinocerebellar ataxia 20


autoimmune interstitial lung disease-arthritis syndrome


hypomagnesemia, seizures, and intellectual disability


congenital insensitivity to pain-hypohidrosis syndrome


skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome


autosomal recessive nonsyndromic hearing loss 97


progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome


macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome


spinocerebellar ataxia, autosomal recessive 23


congenital disorder of glycosylation, type IAA


autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive


short stature-brachydactyly-obesity-global developmental delay syndrome


gnb5-related intellectual disability-cardiac arrhythmia syndrome


language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia


intellectual developmental disorder with dysmorphic facies and ptosis


lissencephaly with cerebellar hypoplasia type A


gastric neuroendocrine tumor, well differentiated, low or intermediate grade


duodenal neuroendocrine tumor, well differentiated, low or intermediate grade


neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade


early-onset autosomal dominant Alzheimer disease


muscular dystrophy, limb-girdle, autosomal dominant


autosomal recessive limb-girdle muscular dystrophy


drug rash with eosinophilia and systemic symptoms


distal hereditary motor neuropathy type 2


neuronopathy, distal hereditary motor, type 5A


distal hereditary motor neuropathy type 7


neuronopathy, distal hereditary motor, autosomal dominant


neuronopathy, distal hereditary motor, autosomal recessive


hereditary sensory and autonomic neuropathy


primary central nervous system vasculitis


rapidly involuting congenital hemangioma


cerebrofacial arteriovenous metameric syndrome


cerebrofacial arteriovenous metameric syndrome type 1


anti-neutrophil cytoplasmic antibody-associated vasculitis


carnitine palmitoyltransferase II deficiency


febrile infection-related epilepsy syndrome


posttransplant acute limbic encephalitis


acute myeloid leukemia by FAB classification


late infantile neuronal ceroid lipofuscinosis


myeloid neoplasm associated with PDGFRA rearrangement


refractory anemia with excess blasts in transformation


transient hypogammaglobulinemia of infancy


immunodeficiency due to a late component of complement deficiency


T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency


autosomal recessive centronuclear myopathy


craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome


progressive familial intrahepatic cholestasis


undifferentiated embryonal sarcoma of the liver


primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma


primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma


primary cutaneous marginal zone B-cell lymphoma


primary cutaneous follicle center lymphoma


indolent primary cutaneous B-cell lymphoma


autosomal dominant spondylocostal dysostosis


autosomal dominant hypohidrotic ectodermal dysplasia


macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss


eosinophilic granulomatosis with polyangiitis


primary pigmented nodular adrenocortical disease


qualitative or quantitative defects of alpha-sarcoglycan


qualitative or quantitative defects of gamma-sarcoglycan


qualitative or quantitative defects of dystrophin


qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan


autosomal dominant rhegmatogenous retinal detachment


squamous cell carcinoma of the corpus uteri


transitional cell carcinoma of the corpus uteri


high-grade neuroendocrine carcinoma of the cervix uteri


46,XX ovotesticular disorder of sex development


mucopolysaccharidosis type 2, severe form


mucopolysaccharidosis type 2, attenuated form


neuroendocrine cell hyperplasia of infancy


attenuated familial adenomatous polyposis


mitochondrial oxidative phosphorylation disorder


multiple system atrophy, cerebellar type


idiopathic hypersomnia without long sleep time


pharyngeal-cervical-brachial variant of Guillain-Barre syndrome


Hermansky-Pudlak syndrome with pulmonary fibrosis


congenital erosive and vesicular dermatosis


aldosterone-producing adrenal cortex adenoma


isolated congenital hypogonadotropic hypogonadism


progressive supranuclear palsy-corticobasal syndrome


biliary atresia with splenic malformation syndrome


congenital pulmonary airway malformation


arrhythmogenic right ventricular cardiomyopathy


sporadic adult-onset ataxia of unknown etiology


autosomal recessive hypohidrotic ectodermal dysplasia


maternal uniparental disomy of chromosome 1


autosomal recessive primary microcephaly


sickle cell-beta-thalassemia disease syndrome


sickle cell-hemoglobin c disease syndrome


medulloblastoma with extensive nodularity


rosette-forming glioneuronal tumor of fourth ventricule


yolk sac tumor of central nervous system


primary melanoma of the central nervous system


mitochondrial myopathy-lactic acidosis-deafness syndrome


methylmalonic aciduria and homocystinuria


autosomal recessive sideroblastic anemia


Alagille syndrome due to a JAG1 point mutation


partial deletion of the short arm of chromosome 1


partial deletion of the long arm of chromosome 7


partial deletion of the long arm of chromosome 11


partial deletion of the long arm of chromosome 13


well-differentiated thymic neuroendocrine carcinoma


interstitial lung disease specific to childhood


Langerhans cell histiocytosis specific to childhood


Langerhans cell histiocytosis specific to adulthood


thiamine-responsive maple syrup urine disease


autosomal recessive intermediate Charcot-Marie-Tooth disease


isolated focal cortical dysplasia type IIa


idiopathic pulmonary arterial hypertension


heritable pulmonary arterial hypertension


frontotemporal dementia with motor neuron disease


Pelizaeus-Merzbacher disease, classic form


Pelizaeus-Merzbacher disease, transitional form


autosomal recessive congenital ichthyosis


immunoglobulin G4-related sclerosing disease


reversible cerebral vasoconstriction syndrome


well-differentiated fetal adenocarcinoma of the lung


chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids


autosomal recessive hypophosphatemic rickets


pyoderma gangrenosum-acne-suppurative hidradenitis syndrome


fatal multiple mitochondrial dysfunctions syndrome


Epstein-Barr virus-associated lymphoproliferative disorder


Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly


idiopathic chronic eosinophilic pneumonia


acute generalized exanthematous pustulosis


malignant migrating partial seizures of infancy


deficiency in anterior pituitary function - variable immunodeficiency syndrome


rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome


combined pulmonary fibrosis-emphysema syndrome


diffuse large B-cell lymphoma of the central nervous system


T-cell/histiocyte rich large B cell lymphoma


primary cutaneous anaplastic large cell lymphoma


splenic diffuse red pulp small B-cell lymphoma


ALK-positive anaplastic large cell lymphoma


ALK-negative anaplastic large cell lymphoma


familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis


generalized galactose epimerase deficiency


Epstein-Barr virus-associated gastric carcinoma


gastric adenocarcinoma and proximal polyposis of the stomach


MIT family translocation renal cell carcinoma


inherited glutathione synthetase deficiency


pure or complex hereditary spastic paraplegia


46,XY ovotesticular disorder of sex development


catecholaminergic polymorphic ventricular tachycardia


fatty acid hydroxylase-associated neurodegeneration


progressive myoclonic epilepsy with dystonia


pyruvate carboxylase deficiency, severe neonatal type


idiopathic macular telangiectasia type 1


neurometabolic disorder due to serine deficiency


combined deficiency of factor V and factor VIII


autosomal dominant childhood-onset proximal spinal muscular atrophy


acute encephalopathy with biphasic seizures and late reduced diffusion


LMNA-related cardiocutaneous progeria syndrome


hereditary sensory and autonomic neuropathy type 1


generalized epilepsy with febrile seizures plus


acute myeloid leukemia with t(8;16)(p11;p13) translocation


peripheral primitive neuroectodermal tumor


qualitative or quantitative defects of alpha-dystroglycan


neurodegeneration with brain iron accumulation


acute myeloid leukemia with t(6;9)(p23;q34)


acute myeloid leukemia with t(9;11)(p22;q23)


autosomal recessive distal renal tubular acidosis


global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome


clear cell papillary renal cell carcinoma


familial atypical multiple mole melanoma syndrome


polyarticular juvenile idiopathic arthritis


pulmonary non-tuberculous mycobacterial infection


autoimmune encephalopathy with parasomnia and obstructive sleep apnea


solid pseudopapillary carcinoma of pancreas


progressive encephalomyelitis with rigidity and myoclonus


zinc-responsive necrolytic acral erythema


combined hamartoma of the retina and retinal pigment epithelium


squamous cell carcinoma of the oral tongue


partially involuting congenital hemangioma


non-acquired combined pituitary hormone deficiency


chronic enteropathy associated with SLCO2A1 gene


congenital bilateral absence of vas deferens


nodular regenerative hyperplasia of the liver


anterior cutaneous nerve entrapment syndrome


corticosteroid-sensitive aseptic abscess syndrome


familial or sporadic hemiplegic migraine


homocystinuria without methylmalonic aciduria


patterned dystrophy of the retinal pigment epithelium


polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2


benign recurrent intrahepatic cholestasis


idiopathic steroid-sensitive nephrotic syndrome


bilateral acute depigmentation of the iris


obesity due to melanocortin 4 receptor deficiency


continuous spikes and waves during sleep


hereditary thrombophilia due to congenital protein C deficiency


myelodysplastic syndrome with ring sideroblasts


non-syndromic X-linked intellectual disability


IgG4-related dacryoadenitis and sialadenitis


interstitial granulomatous dermatitis with arthritis


disseminated superficial actinic porokeratosis


inborn disorder of pyrimidine metabolism


infantile neuronal ceroid lipofuscinosis


generalized junctional epidermolysis bullosa non-Herlitz type


punctate palmoplantar keratoderma type 1


steroid-responsive encephalopathy associated with autoimmune thyroiditis


idiopathic malabsorption due to bile acid synthesis defects


desmin-related myopathy with Mallory body-like inclusions


facial onset sensory and motor neuronopathy


microcephalic osteodysplastic dysplasia, Saul-Wilson type


fetal and neonatal alloimmune thrombocytopenia


X-linked intellectual disability-macrocephaly-macroorchidism syndrome


rheumatoid factor-negative juvenile idiopathic arthritis


oligoarticular juvenile idiopathic arthritis


rheumatoid factor-positive polyarticular juvenile idiopathic arthritis


psoriasis-related juvenile idiopathic arthritis


enthesitis-related juvenile idiopathic arthritis


benign adult familial myoclonic epilepsy


lissencephaly with cerebellar hypoplasia


myelodysplastic syndrome with multilineage dysplasia


myelodysplastic syndrome with excess blasts


acute myeloid leukemia with multilineage dysplasia


therapy related acute myeloid leukemia and myelodysplastic syndrome


T-cell large granular lymphocyte leukemia


subcutaneous panniculitis-like T-cell lymphoma


primary cutaneous peripheral T-cell lymphoma not otherwise specified


undifferentiated connective tissue syndrome


drug-induced autoimmune hemolytic anemia


Shiga toxin-associated hemolytic uremic syndrome


autosomal dominant intermediate Charcot-Marie-Tooth disease


hereditary motor and sensory neuropathy type 6


telangiectasia macularis eruptiva perstans


autosomal dominant nonsyndromic hearing loss


familial thoracic aortic aneurysm and aortic dissection


persistent hyperplastic primary vitreous


short rib-polydactyly syndrome, Majewski type


light and heavy chain deposition disease


atypical hemolytic-uremic syndrome with anti-factor H antibodies


acquired thrombotic thrombocytopenic purpura


developmental defect during embryogenesis


maternal uniparental disomy of chromosome 4


maternal uniparental disomy of chromosome 14


maternal uniparental disomy of chromosome 16


maternal uniparental disomy of chromosome 20


maternal uniparental disomy of chromosome 22


paternal uniparental disomy of chromosome 7


paternal uniparental disomy of chromosome 20


growth hormone-producing pituitary gland neoplasm


hypertrichosis-acromegaloid facial appearance syndrome


hereditary sensory and autonomic neuropathy type 2


unilateral multicystic dysplastic kidney


autosomal recessive congenital cerebellar ataxia


X-linked syndromic intellectual disability


acquired idiopathic inflammatory myopathy


autosomal dominant nocturnal frontal lobe epilepsy


self-limited epilepsy with autonomic seizures


familial focal epilepsy with variable foci


acute myeloid leukemia with 11q23 abnormalities


acute myeloblastic leukemia with maturation


primary mediastinal large B-cell lymphoma


autosomal dominant Emery-Dreifuss muscular dystrophy


congenital dyserythropoietic anemia type 1


acute inflammatory demyelinating polyradiculoneuropathy


acute motor and sensory axonal neuropathy


multiple system atrophy, parkinsonian type


posterior polymorphous corneal dystrophy


congenital hereditary endothelial dystrophy type I


paternal uniparental disomy of chromosome 13


mesial temporal lobe epilepsy with hippocampal sclerosis


precursor B-cell acute lymphoblastic leukemia


precursor T-cell acute lymphoblastic leukemia


acute megakaryoblastic leukemia in down syndrome


long chain acyl-CoA dehydrogenase deficiency


malignant Sertoli-Leydig cell tumor of ovary


autosomal dominant Charcot-Marie-Tooth disease type 2K


renal pelvis/ureter urothelial carcinoma


human papillomavirus-related squamous cell carcinoma


congenital short bowel syndrome, autosomal recessive


epilepsy, childhood absence, susceptibility to, 1


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy


gaze palsy, familial horizontal, with progressive scoliosis 1


pulmonary alveolar proteinosis with hypogammaglobulinemia


autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)


complete androgen insensitivity syndrome


Ewing sarcoma/peripheral primitive neuroectodermal tumor


extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor


classic or attenuated familial adenomatous polyposis


congenital fibrosis of extraocular muscles type 1


obsolete disorder of genitourinary system


mucoepidermoid carcinoma of submandibular gland


mucoepidermoid carcinoma of parotid gland


malignant tumor of extrahepatic bile duct


squamous cell carcinoma of floor of mouth


squamous cell carcinoma of buccal mucosa


undifferentiated carcinoma of nasopharynx


temporomandibular joint dysfunction syndrome


diffuse idiopathic pulmonary neuroendocrine cell hyperplasia


febrile ulceronecrotic Mucha-Habermann disease


functional pancreatic neuroendocrine tumor


polyarticular juvenile rheumatoid arthritis


glycogen storage disease type 1 due to SLC37A4 mutation


non-classic congenital adrenal hyperplasia


hereditary disorder of connective tissue


congenital anomaly of cardiovascular system


pseudoxanthoma elasticum (inherited or acquired)


neuropathy, hereditary sensory and autonomic, type 2A


circadian rhythm sleep disorder, delayed sleep phase type


circadian rhythm sleep disorder, advanced sleep phase type


circadian rhythm sleep disorder, jet lag type


circadian rhythm sleep disorder, shift work type


susceptibility to familial cutaneous melanoma


digestive system neuroendocrine neoplasm


enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1


hypertrophic osteoarthropathy, primary, autosomal recessive, 1


megalencephalic leukoencephalopathy with subcortical cysts 1


ectodermal dysplasia-syndactyly syndrome 1


von Willebrand disease (hereditary or acquired)


central nervous system infectious disorder


tenosynovial giant cell tumor, diffuse type


toxocara canis infection (canine roundworms)


simian acquired immunodeficiency syndrome


murine acquired immunodeficiency syndrome


porcine reproductive and respiratory syndrome


porcine postweaning multisystemic wasting syndrome


autosomal recessive severe congenital neutropenia


neuronopathy, distal hereditary motor, autosomal recessive 8


cystic partially differentiated nephroblastoma


hennekam lymphangiectasia-lymphedema syndrome 3


mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations


fibrosis, neurodegeneration, and cerebral angiomatosis


visual impairment and progressive phthisis bulbi


hereditary angioedema with C1Inh deficiency


monoclonal mast cell activation syndrome


inherited fatty acid metabolism disorder


inherited glutathione metabolism disease


Pseudomonas aeruginosa infectious disease


central retinal vein occlusion with macular edema


twin reversal arterial perfusion syndrome


pneumonia caused by gram negative bacteria


cervical squamous intraepithelial neoplasia


GATA2 deficiency with susceptibility to MDS/AML


acute posterior multifocal placoid pigment epitheliopathy


intravascular papillary endothelial hyperplasia


hearing loss, mixed conductive-sensorineural


congenital heart defects, dysmorphic facial features, and intellectual developmental disorder


early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome


chronic relapsing inflammatory optic neuropathy


Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome


autosomal recessive epidermolytic ichthyosis


X-linked congenital stationary night blindness


nodular lymphocyte predominant Hodgkin lymphoma


nephrotic syndrome of childhood - steroid sensitive


solid pseudopapillary neoplasm of the pancreas


combined hepatocellular carcinoma and cholangiocarcinoma


hematopoietic and lymphoid cell neoplasm


metastatic malignant neoplasm in the eye


acute myeloid leukemia with mutated NPM1


cholesterol biosynthetic process disease


major salivary gland adenoid cystic carcinoma


minor salivary gland adenoid cystic carcinoma


Noonan syndrome-like disorder with loose anagen hair 2


cardiomyopathy, familial hypertrophic 27


encephalopathy due to mitochondrial and peroxisomal fission defect


nasal cavity and paranasal sinus carcinoma


autoinflammation with arthritis and dyskeratosis


neurodevelopmental disorder with involuntary movements


cerebellar atrophy, developmental delay, and seizures


neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures


food protein-induced enterocolitis syndrome


atypical childhood epilepsy with centrotemporal spikes


idiopathic mast cell activation syndrome


hypereosinophilia of undetermined significance


genetic developmental and epileptic encephalopathy


methicillin-resistant staphylococcus aureus infectious disease


hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1


acyl-CoA binding domain containing protein 5 deficiency


adult acute respiratory distress syndrome


pediatric acute respiratory distress syndrome


COVID-19–associated multisystem inflammatory syndrome in children


3-(4-HYDROXYPHENYL)-4,5-DIHYDRO-5-ISOXAZOLE-ACETIC ACID METHYL ESTER


3,5-Dimethyl-1-(3-Nitrophenyl)-1h-Pyrazole-4-Carboxylic Acid Ethyl Ester


parathyroid hormone-related peptide (1-36)


O-raffinose cross-linked human hemoglobin


yellow fever virus strain 17D-204 live antigen


Anti-Myeloma Monoclonal Antibody-DM4 Immunoconjugate BT-062


Bordetella pertussis filamentous hemagglutinin vaccine, inactivated


Anti-mesothelin antibody-drug conjugate BAY 94-9343


coagulation factor IX (recombinant), glycopegylated


antihemophilic factor (recombinant) pegylated


Recombinant human alpha 1-antitrypsin (raat)


Bacillus calmette-guerin substrain danish 1331 live antigen


Recombinant Bacterial ACE2 Receptors-like Enzyme


TRBC2_HUMAN T cell receptor beta constant 2 (sprot)


AN18B_HUMAN Ankyrin repeat domain-containing protein 18B (sprot)


PI4P2_HUMAN Putative phosphatidylinositol 4-kinase alpha-like protein P2 (sprot)


SAC31_HUMAN SAC3 domain-containing protein 1 (sprot)


SIG16_HUMAN Sialic acid-binding Ig-like lectin 16 (sprot)


SRRM3_HUMAN Serine/arginine repetitive matrix protein 3 (sprot)


FOXO6_HUMAN Forkhead box protein O6 (sprot)


TSPO gene translation product isoform PBR-S (human)


Rab GTPase-activating protein 1-like, isoform 10 (human)


GPHRA_HUMAN Golgi pH regulator A (sprot)


KIF28_HUMAN Kinesin-like protein KIF28P (sprot)


VCY2_HUMAN Testis-specific basic protein Y 2 (sprot)


PRY_HUMAN PTPN13-like protein, Y-linked (sprot)


PAX4_HUMAN Paired box protein Pax-4 (sprot)


AN32C_HUMAN Putative uncharacterized protein ANP32CP (sprot)


LIRB3_HUMAN Leukocyte immunoglobulin-like receptor subfamily B member 3 (sprot)


GCYB2_HUMAN Guanylate cyclase soluble subunit beta-2 (sprot)


SERF1_HUMAN Small EDRK-rich factor 1 (sprot)


TIAF1_HUMAN Putative TGFB1-induced anti-apoptotic factor 1 (sprot)


neuroendocrine secretory protein 55 isoform Nesp55 (human)


PM2P2_HUMAN Putative postmeiotic segregation increased 2-like protein 2 (sprot)


IFNA1_HUMAN Interferon alpha-1/13 (sprot)


IGKC_HUMAN Immunoglobulin kappa constant (sprot)


TRAC_HUMAN T cell receptor alpha chain constant (sprot)


TRBC1_HUMAN T cell receptor beta constant 1 (sprot)


IGHG1_HUMAN Immunoglobulin heavy constant gamma 1 (sprot)


IGHG3_HUMAN Immunoglobulin heavy constant gamma 3 (sprot)


IGHG4_HUMAN Immunoglobulin heavy constant gamma 4 (sprot)


IGHM_HUMAN Immunoglobulin heavy constant mu (sprot)


IGHA1_HUMAN Immunoglobulin heavy constant alpha 1 (sprot)


IGHA2_HUMAN Immunoglobulin heavy constant alpha 2 (sprot)


IGHD_HUMAN Immunoglobulin heavy constant delta (sprot)


CRYAA_HUMAN Alpha-crystallin A chain (sprot)


PRPC_HUMAN Salivary acidic proline-rich phosphoprotein 1/2 (sprot)


TRGV3_HUMAN T cell receptor gamma variable 3 (sprot)


OPSG_HUMAN Medium-wave-sensitive opsin 1 (sprot)


TVB79_HUMAN T cell receptor beta variable 7-9 (sprot)


TVA29_HUMAN T cell receptor alpha variable 29/delta variable 5 (sprot)


calcitonin gene-related peptide 1 (human)


KRA23_HUMAN Keratin-associated protein 2-3 (sprot)


SFTA3_HUMAN Surfactant-associated protein 3 (sprot)


MYZAP_HUMAN Myocardial zonula adherens protein (sprot)


DNA-directed RNA polymerase II subunit GRINL1A isoform 6 (human)


Ras-related protein Rab-34 isoform NARR (human)


ST1A3_HUMAN Sulfotransferase 1A3 (sprot)


HS71A_HUMAN Heat shock 70 kDa protein 1A (sprot)


HS71B_HUMAN Heat shock 70 kDa protein 1B (sprot)


CGB3_HUMAN Choriogonadotropin subunit beta 3 (sprot)


ECE2_HUMAN Endothelin-converting enzyme 2 (sprot)


PRB4_HUMAN Basic salivary proline-rich protein 4 (sprot)


MYCP1_HUMAN Putative myc-like protein MYCLP1 (sprot)


KCRU_HUMAN Creatine kinase U-type, mitochondrial (sprot)


CCL4_HUMAN C-C motif chemokine 4 (sprot)


CL3L1_HUMAN C-C motif chemokine 3-like 1 (sprot)


HAP40_HUMAN 40-kDa huntingtin-associated protein (sprot)


ABC3A_HUMAN DNA dC->dU-editing enzyme APOBEC-3A (sprot)


BMI1_HUMAN Polycomb complex protein BMI-1 (sprot)


CBS_HUMAN Cystathionine beta-synthase (sprot)


GGT2_HUMAN Inactive glutathione hydrolase 2 (sprot)


ACHA7_HUMAN Neuronal acetylcholine receptor subunit alpha-7 (sprot)


NBL1_HUMAN Neuroblastoma suppressor of tumorigenicity 1 (sprot)


lamina-associated polypeptide 2 isoform alpha (human)


cyclin-dependent kinase inhibitor 2A isoform h5 (human)


GUC1A_HUMAN Guanylyl cyclase-activating protein 1 (sprot)


MAGA2_HUMAN Melanoma-associated antigen 2 (sprot)


MAGA9_HUMAN Melanoma-associated antigen 9 (sprot)


OR3A4_HUMAN Putative olfactory receptor 3A4 (sprot)


FNTB_HUMAN Protein farnesyltransferase subunit beta (sprot)


NPY4R_HUMAN Neuropeptide Y receptor type 4 (sprot)


UBP11_HUMAN Ubiquitin carboxyl-terminal hydrolase 11 (sprot)


CDR1_HUMAN Cerebellar degeneration-related antigen 1 (sprot)


DVLP1_HUMAN Putative segment polarity protein dishevelled homolog DVL1P1 (sprot)


DSCR4_HUMAN Down syndrome critical region protein 4 (sprot)


SIK1_HUMAN Serine/threonine-protein kinase SIK1 (sprot)


RIPK4_HUMAN Receptor-interacting serine/threonine-protein kinase 4 (sprot)


DSCR9_HUMAN Down syndrome critical region protein 9 (sprot)


DEF1_HUMAN Neutrophil defensin 1 (sprot)


HILS1_HUMAN Putative histone H1.9 (sprot)


HBA_HUMAN Hemoglobin subunit alpha (sprot)


CTG1B_HUMAN Cancer/testis antigen 1 (sprot)


CCZ1_HUMAN Vacuolar fusion protein CCZ1 homolog (sprot)


TSPY1_HUMAN Testis-specific Y-encoded protein 1 (sprot)


MEF2B_HUMAN Myocyte-specific enhancer factor 2B (sprot)


WIT1_HUMAN Putative Wilms tumor upstream neighbor 1 gene protein (sprot)


SG11B_HUMAN Sperm-associated antigen 11B (sprot)


PLCX2_HUMAN PI-PLC X domain-containing protein 2 (sprot)


U17LO_HUMAN Ubiquitin carboxyl-terminal hydrolase 17-like protein 24 (sprot)


KRIP1_HUMAN Putative protein KRIP1 (sprot)


CATR1_HUMAN CATR tumorigenic conversion 1 protein (sprot)


HS902_HUMAN Heat shock protein HSP 90-alpha A2 (sprot)


U2AFL_HUMAN U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1 (sprot)


MCHL1_HUMAN Putative pro-MCH-like protein 1 (sprot)


LPAL2_HUMAN Putative apolipoprotein(a)-like protein 2 (sprot)


SMN_HUMAN Survival motor neuron protein (sprot)


putative ubiquitin carboxyl-terminal hydrolase 41 (human)


LUZP6_HUMAN Leucine zipper protein 6 (sprot)


TNI3K_HUMAN Serine/threonine-protein kinase TNNI3K (sprot)


CT452_HUMAN Cancer/testis antigen family 45 member A2 (sprot)


CLLU1_HUMAN Chronic lymphocytic leukemia up-regulated protein 1 (sprot)


CAR17_HUMAN Putative caspase recruitment domain-containing protein 17P (sprot)


ENK6_HUMAN Endogenous retrovirus group K member 6 Env polyprotein (sprot)


HCP5_HUMAN HLA class I histocompatibility antigen protein P5 (sprot)


PMF1_HUMAN Polyamine-modulated factor 1 (sprot)


SG11A_HUMAN Sperm-associated antigen 11A (sprot)


DUX4C_HUMAN Double homeobox protein 4C (sprot)


IG2AS_HUMAN Putative insulin-like growth factor 2 antisense gene protein (sprot)


SDIM1_HUMAN Stress-responsive DNAJB4-interacting membrane protein 1 (sprot)


AHSA2_HUMAN Putative activator of 90 kDa heat shock protein ATPase homolog 2 (sprot)


SSX6_HUMAN Putative protein SSX6 (sprot)


ASCL5_HUMAN Achaete-scute homolog 5 (sprot)


GVIN1_HUMAN Interferon-induced very large GTPase 1 (sprot)


TCAM2_HUMAN TIR domain-containing adapter molecule 2 (sprot)


BAGE2_HUMAN B melanoma antigen 2 (sprot)


LATH_HUMAN Putative BPIFA4P protein (sprot)


POTED_HUMAN POTE ankyrin domain family member D (sprot)


APRG1_HUMAN APRG1 tumor suppressor candidate (sprot)


GOR_HUMAN Putative exonuclease GOR (sprot)


CTGE4_HUMAN cTAGE family member 4 (sprot)


TDH_HUMAN Inactive L-threonine 3-dehydrogenase, mitochondrial (sprot)


TBC3A_HUMAN TBC1 domain family member 3 (sprot)


OFCC1_HUMAN Orofacial cleft 1 candidate gene 1 protein (sprot)


CLCL1_HUMAN Putative C-type lectin-like domain family 1 (sprot)


CF218_HUMAN Putative uncharacterized protein encoded by LINC00518 (sprot)


CENPS_HUMAN Centromere protein S (sprot)


GALT4_HUMAN Polypeptide N-acetylgalactosaminyltransferase 4 (sprot)


PGSF1_HUMAN Putative uncharacterized protein encoded by MIR7-3HG (sprot)


KI3L3_HUMAN Killer cell immunoglobulin-like receptor 3DL3 (sprot)


TMM75_HUMAN Putative protein encoded by LINC02912 (sprot)


MDS2_HUMAN Myelodysplastic syndrome 2 translocation-associated protein (sprot)


CC4L_HUMAN C-C motif chemokine 4-like (sprot)


SG1C1_HUMAN Secretoglobin family 1C member 1 (sprot)


LCN9_HUMAN Epididymal-specific lipocalin-9 (sprot)


PLAC4_HUMAN Placenta-specific protein 4 (sprot)


MAFIP_HUMAN MaFF-interacting protein (sprot)


NPIB3_HUMAN Nuclear pore complex-interacting protein family member B3 (sprot)


FCGRB_HUMAN Putative high affinity immunoglobulin gamma Fc receptor IB (sprot)


DIRC1_HUMAN Disrupted in renal carcinoma protein 1 (sprot)


TV23C_HUMAN Golgi apparatus membrane protein TVP23 homolog C (sprot)


MAGD4_HUMAN Melanoma-associated antigen D4 (sprot)


HSFY1_HUMAN Heat shock transcription factor, Y-linked (sprot)


LRRC7_HUMAN Leucine-rich repeat-containing protein 7 (sprot)


BIRC8_HUMAN Baculoviral IAP repeat-containing protein 8 (sprot)


GNRR2_HUMAN Putative gonadotropin-releasing hormone II receptor (sprot)


RBM14_HUMAN RNA-binding protein 14 (sprot)


cutaneous T-cell lymphoma-associated antigen 1 isoform 2 (human)


DSCR8_HUMAN Down syndrome critical region protein 8 (sprot)


CD006_HUMAN Uncharacterized protein encoded by LINC01587 (sprot)


SLX1_HUMAN Structure-specific endonuclease subunit SLX1 (sprot)


RM45_HUMAN Large ribosomal subunit protein mL45 (sprot)


SCNM1_HUMAN Sodium channel modifier 1 (sprot)


Bcl-2-binding component 3 isoform 2 (human)


TEX15_HUMAN Testis-expressed protein 15 (sprot)


NXF2_HUMAN Nuclear RNA export factor 2 (sprot)


NXF5_HUMAN Nuclear RNA export factor 5 (sprot)


CXXC4_HUMAN CXXC-type zinc finger protein 4 (sprot)


KCQ1D_HUMAN KCNQ1 downstream neighbor protein (sprot)


torsin-1A-interacting protein 2 isoform IFRG15 (human)


ZBTB3_HUMAN Zinc finger and BTB domain-containing protein 3 (sprot)


ST20_HUMAN Suppressor of tumorigenicity 20 protein (sprot)


SNIT1_HUMAN Uncharacterized protein encoded by SND1-IT1 (sprot)


XAGE1_HUMAN X antigen family member 1 (sprot)


SSF1_HUMAN Suppressor of SWI4 1 homolog (sprot)


SERHL_HUMAN Serine hydrolase-like protein (sprot)


PAK6_HUMAN Serine/threonine-protein kinase PAK 6 (sprot)


SPNXA_HUMAN Sperm protein associated with the nucleus on the X chromosome A (sprot)


SOLH2_HUMAN Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 (sprot)


PTTG3_HUMAN Putative pituitary tumor-transforming gene 3 protein (sprot)


DLGP2_HUMAN Disks large-associated protein 2 (sprot)


TAAR3_HUMAN Putative trace amine-associated receptor 3 (sprot)


HSFX1_HUMAN Heat shock transcription factor, X-linked (sprot)


KAAG1_HUMAN Kidney-associated antigen 1 (sprot)


NAT8B_HUMAN N-acetyltransferase 8B (sprot)


FXL21_HUMAN Putative F-box/LRR-repeat protein 21 (sprot)


CES1P_HUMAN Putative inactive carboxylesterase 4 (sprot)


ISY1_HUMAN Pre-mRNA-splicing factor ISY1 homolog (sprot)


PTPRQ_HUMAN Phosphatidylinositol phosphatase PTPRQ (sprot)


CHMP3_HUMAN Charged multivesicular body protein 3 (sprot)


CMAH_HUMAN Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase (sprot)


HECD4_HUMAN Probable E3 ubiquitin-protein ligase HECTD4 (sprot)


ASB3_HUMAN Ankyrin repeat and SOCS box protein 3 (sprot)


F215A_HUMAN Uncharacterized protein FAM215A (sprot)


CSAG2_HUMAN Chondrosarcoma-associated gene 2/3 protein (sprot)


L3R2A_HUMAN Putative uncharacterized protein encoded by LINC00312 (sprot)


CDY1_HUMAN Testis-specific chromodomain protein Y 1 (sprot)


SMA5O_HUMAN SMAD5 antisense gene protein 1 (sprot)


calcium-activated chloride channel regulator family member 3 (human)