TaoMedAI/RareMedData huggingface dataset:
ORPHA:139515 — Charcot-Marie-Tooth disease type 4J (OMIM: OMIM:611228)
ORPHA:139518 — Distal hereditary motor neuropathy type 1 (OMIM: OMIM:182960)
ORPHA:139525 — Distal hereditary motor neuropathy type 2 (OMIM: OMIM:158590, OMIM:608634, OMIM:613376, OMIM:615575)
ORPHA:139536 — Distal hereditary motor neuropathy type 5 (OMIM: OMIM:600794, OMIM:614751, OMIM:619112)
ORPHA:139547 — Distal spinal muscular atrophy type 3 (OMIM: OMIM:607088)
ORPHA:139552 — Distal hereditary motor neuropathy, Jerash type (OMIM: OMIM:605726)
ORPHA:139557 — X-linked distal spinal muscular atrophy type 3 (OMIM: OMIM:300489)
ORPHA:139564 — Hereditary sensory and autonomic neuropathy type 1B (OMIM: OMIM:608088)
ORPHA:139578 — Mutilating hereditary sensory neuropathy with spastic paraplegia (OMIM: OMIM:256840)
ORPHA:139583 — X-linked hereditary sensory and autonomic neuropathy with deafness (OMIM: OMIM:300614)
ORPHA:139589 — Distal hereditary motor neuropathy type 7 (OMIM: OMIM:158580, OMIM:607641)
ORPHA:1397 — Hydrocephaly-cerebellar agenesis syndrome (OMIM: OMIM:307010)
ORPHA:1399 — Richards-Rundle syndrome (OMIM: OMIM:245100)
ORPHA:14 — Abetalipoproteinemia (OMIM: OMIM:200100, OMIM:615558, OMIM:605019)
ORPHA:140 — Campomelic dysplasia (OMIM: OMIM:114290, OMIM:211990, OMIM:602196)
ORPHA:1401 — CHAND syndrome (OMIM: OMIM:214350)
ORPHA:140436 — Primary intraosseous venous malformation (OMIM: OMIM:606893)
ORPHA:140468 — Autosomal recessive distal hereditary motor neuropathy (OMIM: OMIM:620011, OMIM:604320, OMIM:605726, OMIM:614881, OMIM:611067, OMIM:607088)
ORPHA:140481 — Autosomal dominant slowed nerve conduction velocity (OMIM: OMIM:608236)
ORPHA:140905 — Hyperlipidemia due to hepatic triacylglycerol lipase deficiency (OMIM: OMIM:614025)
ORPHA:140908 — Brachydactyly type B2 (OMIM: OMIM:611377)
ORPHA:140917 — Stapes ankylosis with broad thumbs and toes (OMIM: OMIM:184460)
ORPHA:140922 — Titin-related limb-girdle muscular dystrophy R10 (OMIM: OMIM:608807)
ORPHA:140927 — Self-limited neonatal-infantile epilepsy (OMIM: OMIM:607745)
ORPHA:140936 — Lelis syndrome (OMIM: OMIM:608290)
ORPHA:140941 — Short stature due to primary acid-labile subunit deficiency (OMIM: OMIM:615961)
ORPHA:140944 — CLOVES syndrome (OMIM: OMIM:612918)
ORPHA:140952 — Syndactyly-telecanthus-anogenital and renal malformations syndrome (OMIM: OMIM:300707)
ORPHA:140957 — Autosomal dominant macrothrombocytopenia (OMIM: OMIM:619840, OMIM:619271, OMIM:187800, OMIM:613112, OMIM:615193)
ORPHA:140963 — Bilateral microtia-deafness-cleft palate syndrome (OMIM: OMIM:612290)
ORPHA:140966 — Palmoplantar keratoderma, Nagashima type (OMIM: OMIM:615598)
ORPHA:140969 — Saldino-Mainzer syndrome (OMIM: OMIM:266920, OMIM:615630)
ORPHA:140976 — RHYNS syndrome (OMIM: OMIM:602152)
ORPHA:141 — Canavan disease (OMIM: OMIM:271900)
ORPHA:1410 — Uncombable hair syndrome (OMIM: OMIM:191480, OMIM:617251, OMIM:617252)
ORPHA:141000 — Orofaciodigital syndrome type 11 (OMIM: OMIM:612913)
ORPHA:141007 — Orofaciodigital syndrome type 9 (OMIM: OMIM:258865)
ORPHA:141022 — Second branchial cleft anomaly (OMIM: OMIM:113600)
ORPHA:141074 — External auditory canal aplasia/hypoplasia (OMIM: OMIM:108760, OMIM:607842)
ORPHA:141103 — Nasal dermoid cyst (OMIM: OMIM:600679)
ORPHA:141127 — Congenital tracheal stenosis (OMIM: OMIM:603569)
ORPHA:141132 — Oculo-auriculo-vertebral spectrum (OMIM: OMIM:164210)
ORPHA:141145 — Hemifacial hyperplasia (OMIM: OMIM:133900)
ORPHA:141148 — Hemifacial myohyperplasia (OMIM: OMIM:606773)
ORPHA:141152 — Isolated congenital hypoglossia/aglossia (OMIM: OMIM:612776)
ORPHA:1412 — Tarsal-carpal coalition syndrome (OMIM: OMIM:186400, OMIM:186570)
ORPHA:141242 — Paramedian nasal cleft (OMIM: OMIM:614687)
ORPHA:141258 — Tessier number 4 facial cleft (OMIM: OMIM:600251)
ORPHA:141276 — Tessier number 7 facial cleft (OMIM: OMIM:613545)
ORPHA:141291 — Cleft lip and alveolus (OMIM: OMIM:129400, OMIM:119530, OMIM:600757, OMIM:602966, OMIM:608371, OMIM:610361, OMIM:612858, OMIM:225060, OMIM:608874)
ORPHA:141333 — Biemond syndrome type 2 (OMIM: OMIM:210350)
ORPHA:1414 — Cholestasis-lymphedema syndrome (OMIM: OMIM:214900)
ORPHA:1415 — Hardikar syndrome (OMIM: OMIM:301068)
ORPHA:1416 — Familial calcium pyrophosphate deposition (OMIM: OMIM:118600, OMIM:600668)
ORPHA:1422 — Chondrodysplasia-difference of sex development syndrome (OMIM: OMIM:600092)
ORPHA:1425 — Desbuquois syndrome (OMIM: OMIM:251450, OMIM:615777)
ORPHA:1426 — Greenberg dysplasia (OMIM: OMIM:215140)
ORPHA:1427 — Autosomal recessive otospondylomegaepiphyseal dysplasia (OMIM: OMIM:215150)
ORPHA:1429 — Benign hereditary chorea (OMIM: OMIM:118700, OMIM:215450)
ORPHA:143 — Parathyroid carcinoma (OMIM: OMIM:608266)
ORPHA:1435 — Xq21 microdeletion syndrome (OMIM: OMIM:303110)
ORPHA:1436 — X-linked skeletal dysplasia-intellectual disability syndrome (OMIM: OMIM:309620)
ORPHA:144 — Lynch syndrome (OMIM: OMIM:120435, OMIM:609310, OMIM:613244, OMIM:614331, OMIM:614337, OMIM:614350, OMIM:614385)
ORPHA:1440 — Ring chromosome 14 syndrome (OMIM: OMIM:616606)
ORPHA:145 — Hereditary breast and/or ovarian cancer syndrome (OMIM: OMIM:604370, OMIM:612555, OMIM:613399, OMIM:614291)
ORPHA:1451 — CINCA syndrome (OMIM: OMIM:607115)
ORPHA:1452 — Cleidocranial dysplasia (OMIM: OMIM:620099, OMIM:119600)
ORPHA:1453 — Cleidorhizomelic syndrome (OMIM: OMIM:119650)
ORPHA:1454 — Joubert syndrome with hepatic defect (OMIM: OMIM:216360, OMIM:619113, OMIM:619111)
ORPHA:1457 — Aorta coarctation (OMIM: OMIM:120000)
ORPHA:1458 — CODAS syndrome (OMIM: OMIM:600373)
ORPHA:1459 — Celiac disease-epilepsy-cerebral calcification syndrome (OMIM: OMIM:226810)
ORPHA:146 — Differentiated thyroid carcinoma (OMIM: OMIM:188550, OMIM:607464)
ORPHA:1460 — Isolated complex III deficiency (OMIM: OMIM:618775, OMIM:620137, OMIM:124000, OMIM:615157, OMIM:615158, OMIM:615159, OMIM:615160, OMIM:615453, OMIM:615824, OMIM:615838, OMIM:616111)
ORPHA:1465 — Coffin-Siris syndrome (OMIM: OMIM:618779, OMIM:135900, OMIM:614607, OMIM:614608, OMIM:614609, OMIM:615866, OMIM:616938, OMIM:617808, OMIM:619325, OMIM:618506, OMIM:618027, OMIM:618362)
ORPHA:1466 — COFS syndrome (OMIM: OMIM:214150, OMIM:278780, OMIM:610756, OMIM:610758, OMIM:616570)
ORPHA:147 — Carbamoyl-phosphate synthetase 1 deficiency (OMIM: OMIM:237300)
ORPHA:1471 — Coloboma of macula-brachydactyly type B syndrome (OMIM: OMIM:120400)
ORPHA:1473 — Uveal coloboma-cleft lip and palate-intellectual disability (OMIM: OMIM:120433)
ORPHA:1475 — Renal coloboma syndrome (OMIM: OMIM:120330)
ORPHA:1478 — Interatrial communication (OMIM: OMIM:108800, OMIM:607941, OMIM:611363, OMIM:612794, OMIM:613087, OMIM:614089, OMIM:614433, OMIM:614475)
ORPHA:1479 — Atrial septal defect-atrioventricular conduction defects syndrome (OMIM: OMIM:108900)
ORPHA:1484 — Contractures-ectodermal dysplasia-cleft lip/palate syndrome (OMIM: OMIM:301815)
ORPHA:1485 — Arthrogryposis-hyperkeratosis syndrome, lethal form (OMIM: OMIM:208158)
ORPHA:1486 — Lethal congenital contracture syndrome type 1 (OMIM: OMIM:253310)
ORPHA:1487 — Cooks syndrome (OMIM: OMIM:106995)
ORPHA:1488 — Cooper-Jabs syndrome (OMIM: OMIM:209770)
ORPHA:1490 — Corneal dystrophy-perceptive deafness syndrome (OMIM: OMIM:217400)
ORPHA:1493 — Vici syndrome (OMIM: OMIM:242840)
ORPHA:1496 — Corpus callosum agenesis-neuronopathy syndrome (OMIM: OMIM:218000)
ORPHA:1497 — X-linked complicated corpus callosum dysgenesis (OMIM: OMIM:304100)
ORPHA:15 — Achondroplasia (OMIM: OMIM:100800)
ORPHA:150 — Nasopharyngeal carcinoma (OMIM: OMIM:161550, OMIM:607107, OMIM:617075)
ORPHA:1501 — Adrenocortical carcinoma (OMIM: OMIM:202300)
ORPHA:1507 — Autosomal recessive Robinow syndrome (OMIM: OMIM:618529, OMIM:268310)
ORPHA:1508 — Coxoauricular syndrome (OMIM: OMIM:122780)
ORPHA:1509 — Coxopodopatellar syndrome (OMIM: OMIM:147891)
ORPHA:1512 — Crane-Heise syndrome (OMIM: OMIM:218090)
ORPHA:1513 — Craniodiaphyseal dysplasia (OMIM: OMIM:122860, OMIM:218300)
ORPHA:1514 — Craniodigital-intellectual disability syndrome (OMIM: OMIM:312860)
ORPHA:1515 — Cranioectodermal dysplasia (OMIM: OMIM:617102, OMIM:218330, OMIM:613610, OMIM:614099, OMIM:614378)
ORPHA:1516 — Non-syndromic bilambdoid and sagittal craniosynostosis (OMIM: OMIM:218350)
ORPHA:1517 — Cantú syndrome (OMIM: OMIM:239850)
ORPHA:1519 — SPECC1L-related hypertelorism syndrome (OMIM: OMIM:145420)
ORPHA:1520 — Craniofrontonasal dysplasia (OMIM: OMIM:304110)
ORPHA:1522 — Craniometaphyseal dysplasia (OMIM: OMIM:123000, OMIM:218400)
ORPHA:1524 — Craniomicromelic syndrome (OMIM: OMIM:602558)
ORPHA:1525 — Cranio-osteoarthropathy (OMIM: OMIM:259100)
ORPHA:1527 — Craniosynostosis, Philadelphia type (OMIM: OMIM:185900)
ORPHA:1528 — Craniotelencephalic dysplasia (OMIM: OMIM:218670)
ORPHA:1529 — Craniofacial-deafness-hand syndrome (OMIM: OMIM:122880)
ORPHA:1532 — Gómez-López-Hernández syndrome (OMIM: OMIM:601853)
ORPHA:1538 — Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome (OMIM: OMIM:123155)
ORPHA:154 — Familial isolated dilated cardiomyopathy (OMIM: OMIM:619897, OMIM:619747, OMIM:618189, OMIM:619492, OMIM:619371, OMIM:613694, OMIM:613697, OMIM:613881, OMIM:614672, OMIM:615184, OMIM:615235, OMIM:615248, OMIM:615373, OMIM:615396, OMIM:615916, OMIM:620203, OMIM:115200, OMIM:302045, OMIM:600884, OMIM:601154, OMIM:601493, OMIM:601494, OMIM:604145, OMIM:604288, OMIM:604765, OMIM:605582, OMIM:606685, OMIM:607482, OMIM:608569, OMIM:609909, OMIM:609915, OMIM:611407, OMIM:611615, OMIM:611878, OMIM:611879, OMIM:611880, OMIM:612158, OMIM:612877, OMIM:613122, OMIM:613172, OMIM:613252, OMIM:613286, OMIM:613424, OMIM:613426, OMIM:613642)
ORPHA:1540 — Jackson-Weiss syndrome (OMIM: OMIM:123150)
ORPHA:1541 — Craniosynostosis, Boston type (OMIM: OMIM:604757)
ORPHA:1545 — Crisponi syndrome (OMIM: OMIM:272430)
ORPHA:1547 — Cryptomicrotia-brachydactyly-excess fingertip arch syndrome (OMIM: OMIM:123560)
ORPHA:1551 — Familial benign copper deficiency (OMIM: OMIM:121270)
ORPHA:1552 — Currarino syndrome (OMIM: OMIM:176450)
ORPHA:1553 — Curry-Jones syndrome (OMIM: OMIM:601707)
ORPHA:1555 — Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome (OMIM: OMIM:123790)
ORPHA:1556 — Cutis marmorata telangiectatica congenita (OMIM: OMIM:219250)
ORPHA:156 — Carnitine palmitoyl transferase 1A deficiency (OMIM: OMIM:255120)
ORPHA:1561 — Fatal infantile cytochrome C oxidase deficiency (OMIM: OMIM:615119, OMIM:616500, OMIM:616501, OMIM:604377)
ORPHA:1563 — Dahlberg-Borer-Newcomer syndrome (OMIM: OMIM:247410)
ORPHA:1566 — Dandy-Walker malformation-postaxial polydactyly syndrome (OMIM: OMIM:220220)
ORPHA:156728 — Spondyloepimetaphyseal dysplasia, matrilin-3 type (OMIM: OMIM:608728)
ORPHA:156731 — Dyssegmental dysplasia, Rolland-Desbuquois type (OMIM: OMIM:224400)
ORPHA:1568 — X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome (OMIM: OMIM:304340)
ORPHA:157 — Carnitine palmitoyltransferase II deficiency (OMIM: OMIM:255110, OMIM:600649, OMIM:608836)
ORPHA:1571 — Knobloch syndrome (OMIM: OMIM:618458, OMIM:267750)
ORPHA:1572 — Common variable immunodeficiency (OMIM: OMIM:146830, OMIM:240500, OMIM:607594, OMIM:613493, OMIM:613494, OMIM:613495, OMIM:613496, OMIM:614699, OMIM:615577, OMIM:616576)
ORPHA:157215 — Hereditary hypophosphatemic rickets with hypercalciuria (OMIM: OMIM:241530)
ORPHA:1573 — Hypotrichosis with juvenile macular degeneration (OMIM: OMIM:601553)
ORPHA:1574 — Retinal degeneration-nanophthalmos-glaucoma syndrome (OMIM: OMIM:267760)
ORPHA:1576 — Infantile bilateral striatal necrosis (OMIM: OMIM:271930, OMIM:500003)
ORPHA:157713 — Congenital or early infantile CACH syndrome (OMIM: OMIM:603896)
ORPHA:157716 — Late infantile CACH syndrome (OMIM: OMIM:603896)
ORPHA:157719 — Juvenile or adult CACH syndrome (OMIM: OMIM:603896)
ORPHA:157794 — Hereditary mixed polyposis syndrome (OMIM: OMIM:601228, OMIM:610069)
ORPHA:157798 — Serrated polyposis syndrome (OMIM: OMIM:617108)
ORPHA:1578 — Pterin-4 alpha-carbinolamine dehydratase deficiency (OMIM: OMIM:264070)
ORPHA:157801 — Mesoaxial synostotic syndactyly with phalangeal reduction (OMIM: OMIM:609432)
ORPHA:157820 — Cold-induced sweating syndrome (OMIM: OMIM:610313, OMIM:272430, OMIM:617055)
ORPHA:157832 — Craniorhiny (OMIM: OMIM:123050)
ORPHA:157846 — Neuroferritinopathy (OMIM: OMIM:606159)
ORPHA:157850 — Pantothenate kinase-associated neurodegeneration (OMIM: OMIM:234200)
ORPHA:157941 — Huntington disease-like 1 (OMIM: OMIM:603218)
ORPHA:157946 — Huntington disease-like 3 (OMIM: OMIM:604802)
ORPHA:157949 — Combined immunodeficiency with granulomatosis (OMIM: OMIM:233650)
ORPHA:157954 — ANE syndrome (OMIM: OMIM:612079)
ORPHA:157962 — Oculoauricular syndrome, Schorderet type (OMIM: OMIM:612109)
ORPHA:157965 — SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome (OMIM: OMIM:612350)
ORPHA:157973 — Congenital muscular dystrophy due to LMNA mutation (OMIM: OMIM:613205)
ORPHA:158 — Systemic primary carnitine deficiency (OMIM: OMIM:212140)
ORPHA:158025 — Hereditary progressive mucinous histiocytosis (OMIM: OMIM:142630)
ORPHA:158029 — Sea-blue histiocytosis (OMIM: OMIM:269600)
ORPHA:158668 — Ectodermal dysplasia-skin fragility syndrome (OMIM: OMIM:604536)
ORPHA:158681 — Epidermolysis bullosa simplex with circinate migratory erythema (OMIM: OMIM:609352)
ORPHA:158684 — Epidermolysis bullosa simplex with pyloric atresia (OMIM: OMIM:612138)
ORPHA:158687 — Lethal acantholytic erosive disorder (OMIM: OMIM:609638)
ORPHA:1587 — Monosomy 13q14 syndrome (OMIM: OMIM:613884)
ORPHA:159 — Carnitine-acylcarnitine translocase deficiency (OMIM: OMIM:212138)
ORPHA:1590 — Distal deletion 13q syndrome (OMIM: OMIM:602553)
ORPHA:1596 — Distal deletion 15q syndrome (OMIM: OMIM:612626)
ORPHA:1598 — Monosomy 18p syndrome (OMIM: OMIM:146390)
ORPHA:16 — Blue cone monochromatism (OMIM: OMIM:303700)
ORPHA:160 — Castleman disease (OMIM: OMIM:148000)
ORPHA:1600 — Monosomy 18q syndrome (OMIM: OMIM:601808)
ORPHA:1606 — 1p36 deletion syndrome (OMIM: OMIM:616975, OMIM:607872)
ORPHA:1620 — Distal deletion 3p syndrome (OMIM: OMIM:613792)
ORPHA:1621 — 3q13 microdeletion syndrome (OMIM: OMIM:615433)
ORPHA:163 — Hereditary hyperferritinemia-cataract syndrome (OMIM: OMIM:600886)
ORPHA:163596 — Hb Bart's hydrops fetalis (OMIM: OMIM:236750)
ORPHA:163634 — Maffucci syndrome (OMIM: OMIM:614569)
ORPHA:163654 — Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome (OMIM: OMIM:611717)
ORPHA:163662 — Spondyloepiphyseal dysplasia, Reardon type (OMIM: OMIM:600561)
ORPHA:163665 — Spondyloepiphyseal dysplasia tarda, Kohn type (OMIM: OMIM:271620)
ORPHA:163668 — Spondyloepiphyseal dysplasia, MacDermot type (OMIM: OMIM:184000)
ORPHA:163681 — CNTNAP2-related developmental and epileptic encephalopathy (OMIM: OMIM:610042)
ORPHA:163684 — Leukoencephalopathy-dystonia-motor neuropathy syndrome (OMIM: OMIM:613724)
ORPHA:163690 — Hypotonia-cystinuria syndrome (OMIM: OMIM:606407)
ORPHA:163693 — 2p21 microdeletion syndrome (OMIM: OMIM:606407)
ORPHA:163696 — Action myoclonus-renal failure syndrome (OMIM: OMIM:254900)
ORPHA:163699 — Alveolar soft tissue sarcoma (OMIM: OMIM:606243)
ORPHA:163717 — Benign familial mesial temporal lobe epilepsy (OMIM: OMIM:611630, OMIM:614417, OMIM:615697)
ORPHA:163721 — Rolandic epilepsy-speech dyspraxia syndrome (OMIM: OMIM:245570, OMIM:300643)
ORPHA:163727 — Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome (OMIM: OMIM:608105)
ORPHA:163746 — Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (OMIM: OMIM:609136)
ORPHA:163937 — X-linked intellectual disability, Najm type (OMIM: OMIM:300749)
ORPHA:163956 — X-linked intellectual disability, Nascimento type (OMIM: OMIM:300860)
ORPHA:163961 — X-linked cerebral-cerebellar-coloboma syndrome (OMIM: OMIM:300864)
ORPHA:163966 — X-linked dominant chondrodysplasia, Chassaing-Lacombe type (OMIM: OMIM:300863)
ORPHA:163976 — X-linked intellectual disability, Van Esch type (OMIM: OMIM:301030)
ORPHA:163979 — X-linked intellectual disability-craniofacioskeletal syndrome (OMIM: OMIM:300712)
ORPHA:163985 — Hyperekplexia-epilepsy syndrome (OMIM: OMIM:300607)
ORPHA:1646 — Chromosome Y microdeletion syndrome (OMIM: OMIM:400042, OMIM:415000)
ORPHA:1647 — Oculocerebrocutaneous syndrome (OMIM: OMIM:164180)
ORPHA:164736 — Familial advanced sleep-phase syndrome (OMIM: OMIM:616882, OMIM:620015, OMIM:604348, OMIM:615224)
ORPHA:1652 — Dent disease (OMIM: OMIM:300009, OMIM:300554, OMIM:300555, OMIM:308990, OMIM:310468)
ORPHA:1653 — Dentin dysplasia (OMIM: OMIM:125400, OMIM:125420)
ORPHA:1655 — Müllerian derivatives-lymphangiectasia-polydactyly syndrome (OMIM: OMIM:235255)
ORPHA:1656 — Dermatitis herpetiformis (OMIM: OMIM:601230)
ORPHA:1657 — Dermatoosteolysis, Kirghizian type (OMIM: OMIM:221810)
ORPHA:1658 — Absence of fingerprints-congenital milia syndrome (OMIM: OMIM:129200)
ORPHA:165805 — Familial mesial temporal lobe epilepsy with febrile seizures (OMIM: OMIM:614418)
ORPHA:1659 — Dermatoleukodystrophy (OMIM: OMIM:221790)
ORPHA:165991 — Exercise-induced hyperinsulinism (OMIM: OMIM:610021)
ORPHA:1660 — Dermoodontodysplasia (OMIM: OMIM:125640)
ORPHA:166002 — Multiple epiphyseal dysplasia due to collagen 9 anomaly (OMIM: OMIM:600204, OMIM:600969, OMIM:614135)
ORPHA:166016 — Multiple epiphyseal dysplasia, Lowry type (OMIM: OMIM:601560)
ORPHA:166024 — Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome (OMIM: OMIM:607131)
ORPHA:166029 — Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome (OMIM: OMIM:609324)
ORPHA:166032 — Multiple epiphyseal dysplasia-miniepiphyses syndrome (OMIM: OMIM:609325)
ORPHA:166035 — Brachydactyly-short stature-retinitis pigmentosa syndrome (OMIM: OMIM:250410)
ORPHA:166038 — Metaphyseal chondrodysplasia, Kaitila type (OMIM: OMIM:250230)
ORPHA:166063 — Pontocerebellar hypoplasia type 4 (OMIM: OMIM:225753)
ORPHA:166073 — Pontocerebellar hypoplasia type 6 (OMIM: OMIM:611523)
ORPHA:166078 — Von Willebrand disease type 1 (OMIM: OMIM:193400)
ORPHA:166081 — Von Willebrand disease type 2 (OMIM: OMIM:613554)
ORPHA:166084 — Von Willebrand disease type 2A (OMIM: OMIM:613554)
ORPHA:166087 — Von Willebrand disease type 2B (OMIM: OMIM:613554)
ORPHA:166090 — Von Willebrand disease type 2M (OMIM: OMIM:613554)
ORPHA:166093 — Von Willebrand disease type 2N (OMIM: OMIM:613554)
ORPHA:166096 — Von Willebrand disease type 3 (OMIM: OMIM:277480)
ORPHA:1661 — X-linked corneal dermoid (OMIM: OMIM:304730)
ORPHA:166100 — Autosomal dominant otospondylomegaepiphyseal dysplasia (OMIM: OMIM:184840)
ORPHA:166105 — FASTKD2-related infantile mitochondrial encephalomyopathy (OMIM: OMIM:618855)
ORPHA:166108 — Birk-Barel syndrome (OMIM: OMIM:612292)
ORPHA:166119 — Isolated osteopoikilosis (OMIM: OMIM:166700)
ORPHA:1662 — Restrictive dermopathy (OMIM: OMIM:275210, OMIM:619793)
ORPHA:166260 — Dentinogenesis imperfecta type 2 (OMIM: OMIM:125490, OMIM:605594)
ORPHA:166265 — Dentinogenesis imperfecta type 3 (OMIM: OMIM:125500)
ORPHA:166272 — Odontochondrodysplasia (OMIM: OMIM:184260)
ORPHA:166277 — Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia (OMIM: OMIM:604922)
ORPHA:166282 — Familial sick sinus syndrome (OMIM: OMIM:163800, OMIM:182190, OMIM:608567, OMIM:614090, OMIM:619464)
ORPHA:166409 — Photosensitive epilepsy (OMIM: OMIM:132100, OMIM:609572, OMIM:609573)
ORPHA:166412 — Hot water reflex epilepsy (OMIM: OMIM:613339, OMIM:613340)
ORPHA:166433 — Reading seizures (OMIM: OMIM:132300)
ORPHA:1667 — Wolcott-Rallison syndrome (OMIM: OMIM:226980)
ORPHA:167 — Chédiak-Higashi syndrome (OMIM: OMIM:214500)
ORPHA:1670 — Chronic diarrhea with villous atrophy (OMIM: OMIM:520100)
ORPHA:1671 — Split cord malformation type I (OMIM: OMIM:222500)
ORPHA:1675 — Dihydropyrimidine dehydrogenase deficiency (OMIM: OMIM:274270)
ORPHA:167714 — Unclassified acute myeloid leukemia (OMIM: OMIM:601626)
ORPHA:168 — Loose anagen syndrome (OMIM: OMIM:600628)
ORPHA:1682 — Arterial dissection-lentiginosis syndrome (OMIM: OMIM:600459)
ORPHA:168443 — Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome (OMIM: OMIM:183849)
ORPHA:168451 — Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome (OMIM: OMIM:601668)
ORPHA:168454 — Spondyloepimetaphyseal dysplasia, Geneviève type (OMIM: OMIM:610442)
ORPHA:168544 — Spondylometaphyseal dysplasia, Golden type (OMIM: OMIM:313420)
ORPHA:168549 — Axial spondylometaphyseal dysplasia (OMIM: OMIM:602271)
ORPHA:168552 — Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome (OMIM: OMIM:607543)
ORPHA:168555 — Spondylometaphyseal dysplasia, A4 type (OMIM: OMIM:609052)
ORPHA:168558 — 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency (OMIM: OMIM:613743)
ORPHA:168563 — 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (OMIM: OMIM:607080)
ORPHA:168566 — Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 (OMIM: OMIM:610505)
ORPHA:168569 — H syndrome (OMIM: OMIM:602782)
ORPHA:168572 — Native American myopathy (OMIM: OMIM:255995)
ORPHA:168577 — Hereditary cryohydrocytosis with reduced stomatin (OMIM: OMIM:608885)
ORPHA:168583 — Hereditary North American Indian childhood cirrhosis (OMIM: OMIM:604901)
ORPHA:168588 — Hyperandrogenism due to cortisone reductase deficiency (OMIM: OMIM:604931, OMIM:614662)
ORPHA:168593 — Sudden infant death-dysgenesis of the testes syndrome (OMIM: OMIM:608800)
ORPHA:168598 — Methionine adenosyltransferase I/III deficiency (OMIM: OMIM:250850)
ORPHA:168601 — Congenital enteropathy due to enteropeptidase deficiency (OMIM: OMIM:226200)
ORPHA:168606 — Seborrhea-like dermatitis with psoriasiform elements (OMIM: OMIM:610227)
ORPHA:168612 — Congenital deficiency in alpha-fetoprotein (OMIM: OMIM:615969)
ORPHA:168615 — Hereditary persistence of alpha-fetoprotein (OMIM: OMIM:615970)
ORPHA:168624 — Familial scaphocephaly syndrome, McGillivray type (OMIM: OMIM:609579)
ORPHA:168629 — Autosomal thrombocytopenia with normal platelets (OMIM: OMIM:616216, OMIM:188000, OMIM:273900, OMIM:612004)
ORPHA:168632 — Generalized basaloid follicular hamartoma syndrome (OMIM: OMIM:605827)
ORPHA:168796 — Heart-hand syndrome, Slovenian type (OMIM: OMIM:610140)
ORPHA:168953 — Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement (OMIM: OMIM:613523)
ORPHA:168984 — CLAPO syndrome (OMIM: OMIM:613089)
ORPHA:169 — Ringed hair disease (OMIM: OMIM:180600)
ORPHA:169079 — Cernunnos-XLF deficiency (OMIM: OMIM:611291)
ORPHA:169082 — Combined immunodeficiency due to CD3gamma deficiency (OMIM: OMIM:615607)
ORPHA:169085 — Susceptibility to respiratory infections associated with CD8alpha chain mutation (OMIM: OMIM:608957)
ORPHA:169090 — Combined immunodeficiency due to CRAC channel dysfunction (OMIM: OMIM:612782, OMIM:612783)
ORPHA:169095 — Severe combined immunodeficiency due to FOXN1 deficiency (OMIM: OMIM:601705)
ORPHA:169100 — Immunodeficiency due to CD25 deficiency (OMIM: OMIM:606367)
ORPHA:169142 — Recurrent infections due to specific granule deficiency (OMIM: OMIM:617475, OMIM:245480)
ORPHA:169147 — Immunodeficiency due to a classical component pathway complement deficiency (OMIM: OMIM:216950, OMIM:217000, OMIM:613652, OMIM:613783, OMIM:614379, OMIM:614380)
ORPHA:169150 — Immunodeficiency due to a late component of complement deficiency (OMIM: OMIM:610102, OMIM:612446, OMIM:613789, OMIM:613790, OMIM:613825, OMIM:609536)
ORPHA:169154 — T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency (OMIM: OMIM:608971)
ORPHA:169157 — T-B+ severe combined immunodeficiency due to CD45 deficiency (OMIM: OMIM:608971)
ORPHA:169160 — T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta (OMIM: OMIM:610163, OMIM:615615, OMIM:615617)
ORPHA:169186 — Autosomal recessive centronuclear myopathy (OMIM: OMIM:255200, OMIM:615959)
ORPHA:169189 — Autosomal dominant centronuclear myopathy (OMIM: OMIM:160150)
ORPHA:169464 — Primary CD59 deficiency (OMIM: OMIM:612300)
ORPHA:169467 — Recurrent Neisseria infections due to factor D deficiency (OMIM: OMIM:613912)
ORPHA:169793 — Severe hemophilia B (OMIM: OMIM:306900)
ORPHA:169796 — Moderate hemophilia B (OMIM: OMIM:306900)
ORPHA:169799 — Mild hemophilia B (OMIM: OMIM:306900)
ORPHA:169802 — Severe hemophilia A (OMIM: OMIM:306700)
ORPHA:169805 — Moderate hemophilia A (OMIM: OMIM:306700)
ORPHA:169808 — Mild hemophilia A (OMIM: OMIM:306700)
ORPHA:17 — Fatal infantile lactic acidosis with methylmalonic aciduria (OMIM: OMIM:245400)
ORPHA:170 — Woolly hair (OMIM: OMIM:194300, OMIM:278150, OMIM:604379, OMIM:615896, OMIM:616760)