TaoMedAI/RareMedData huggingface dataset:
ORPHA:824 — Primary myelofibrosis (OMIM: OMIM:254450)
ORPHA:827 — Stargardt disease (OMIM: OMIM:248200, OMIM:600110, OMIM:603786)
ORPHA:828 — Stickler syndrome (OMIM: OMIM:108300, OMIM:604841, OMIM:609508, OMIM:614134, OMIM:614284)
ORPHA:83 — Antley-Bixler syndrome (OMIM: OMIM:207410)
ORPHA:832 — Succinyl-CoA:3-oxoacid CoA transferase deficiency (OMIM: OMIM:245050)
ORPHA:833 — Encephalopathy due to sulfite oxidase deficiency (OMIM: OMIM:252150, OMIM:252160, OMIM:272300, OMIM:615501)
ORPHA:83330 — Proximal spinal muscular atrophy type 1 (OMIM: OMIM:253300)
ORPHA:834 — Free sialic acid storage disease (OMIM: OMIM:269920, OMIM:604369)
ORPHA:83418 — Proximal spinal muscular atrophy type 2 (OMIM: OMIM:253550)
ORPHA:83419 — Proximal spinal muscular atrophy type 3 (OMIM: OMIM:253400)
ORPHA:83420 — Proximal spinal muscular atrophy type 4 (OMIM: OMIM:271150)
ORPHA:83452 — Complex regional pain syndrome (OMIM: OMIM:604335)
ORPHA:83454 — Glomuvenous malformation (OMIM: OMIM:138000)
ORPHA:83461 — Congenital primary aphakia (OMIM: OMIM:610256)
ORPHA:83463 — Microtia (OMIM: OMIM:128800, OMIM:600674)
ORPHA:83471 — T-cell immunodeficiency with thymic aplasia (OMIM: OMIM:242700)
ORPHA:83472 — CAMOS syndrome (OMIM: OMIM:606937)
ORPHA:83473 — Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome (OMIM: OMIM:615938, OMIM:603387, OMIM:615937)
ORPHA:83476 — West-Nile encephalitis (OMIM: OMIM:610379)
ORPHA:83617 — Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome (OMIM: OMIM:610483)
ORPHA:83620 — Enteric anendocrinosis (OMIM: OMIM:610370)
ORPHA:83629 — Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome (OMIM: OMIM:300232)
ORPHA:83639 — Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (OMIM: OMIM:610293)
ORPHA:83642 — Microcytic anemia with liver iron overload (OMIM: OMIM:206100)
ORPHA:839 — Congenital nephrotic syndrome, Finnish type (OMIM: OMIM:256300)
ORPHA:84 — Fanconi anemia (OMIM: OMIM:617883, OMIM:617243, OMIM:617244, OMIM:617247, OMIM:227645, OMIM:227646, OMIM:227650, OMIM:300514, OMIM:600901, OMIM:603467, OMIM:609053, OMIM:609054, OMIM:610832, OMIM:613390, OMIM:613951, OMIM:614082, OMIM:614083, OMIM:615272, OMIM:616435)
ORPHA:84064 — Syndromic diarrhea (OMIM: OMIM:222470, OMIM:614602)
ORPHA:84081 — Senior-Boichis syndrome (OMIM: OMIM:616217, OMIM:613550)
ORPHA:84090 — Fibronectin glomerulopathy (OMIM: OMIM:137950, OMIM:601894)
ORPHA:84093 — Hereditary thermosensitive neuropathy (OMIM: OMIM:602107)
ORPHA:841 — Sebocystomatosis (OMIM: OMIM:184500)
ORPHA:84132 — Desmin-related myopathy with Mallory body-like inclusions (OMIM: OMIM:602771)
ORPHA:842 — Testicular seminomatous germ cell tumor (OMIM: OMIM:273300)
ORPHA:844 — Lown-Ganong-Levine syndrome (OMIM: OMIM:108950)
ORPHA:845 — Tay-Sachs disease (OMIM: OMIM:272800)
ORPHA:846 — Alpha-thalassemia (OMIM: OMIM:604131)
ORPHA:847 — X-linked alpha-thalassemia-intellectual disability syndrome (OMIM: OMIM:301040, OMIM:309580)
ORPHA:848 — Beta-thalassemia (OMIM: OMIM:613985, OMIM:603902)
ORPHA:849 — Glanzmann thrombasthenia (OMIM: OMIM:619267, OMIM:273800)
ORPHA:85 — Congenital dyserythropoietic anemia (OMIM: OMIM:619789, OMIM:105600, OMIM:224120, OMIM:224100, OMIM:613673, OMIM:615631)
ORPHA:851 — Paris-Trousseau thrombocytopenia (OMIM: OMIM:617443, OMIM:188025)
ORPHA:85110 — Familial encephalopathy with neuroserpin inclusion bodies (OMIM: OMIM:604218)
ORPHA:85112 — Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome (OMIM: OMIM:610644)
ORPHA:85128 — Bothnia retinal dystrophy (OMIM: OMIM:607475)
ORPHA:85136 — Cystic leukoencephalopathy without megalencephaly (OMIM: OMIM:612951)
ORPHA:85138 — Addison disease (OMIM: OMIM:103230, OMIM:240200)
ORPHA:85146 — Neurogenic scapuloperoneal syndrome, Kaeser type (OMIM: OMIM:181400)
ORPHA:85163 — Hypomyelination-congenital cataract syndrome (OMIM: OMIM:610532)
ORPHA:85164 — Camptodactyly-tall stature-scoliosis-hearing loss syndrome (OMIM: OMIM:610474)
ORPHA:85165 — Severe achondroplasia-developmental delay-acanthosis nigricans syndrome (OMIM: OMIM:616482)
ORPHA:85166 — Platyspondylic dysplasia, Torrance type (OMIM: OMIM:151210)
ORPHA:85167 — Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome (OMIM: OMIM:608940)
ORPHA:85169 — Familial digital arthropathy-brachydactyly (OMIM: OMIM:606835)
ORPHA:85170 — Mesomelic dysplasia, Savarirayan type (OMIM: OMIM:605274)
ORPHA:85172 — Microcephalic osteodysplastic dysplasia, Saul-Wilson type (OMIM: OMIM:618150)
ORPHA:85173 — IMAGe syndrome (OMIM: OMIM:614732)
ORPHA:85174 — Pseudodiastrophic dysplasia (OMIM: OMIM:264180)
ORPHA:85179 — Infantile osteopetrosis with neuroaxonal dysplasia (OMIM: OMIM:600329)
ORPHA:85182 — Diaphyseal medullary stenosis-bone malignancy syndrome (OMIM: OMIM:112250)
ORPHA:85184 — Craniometadiaphyseal dysplasia, wormian bone type (OMIM: OMIM:269300)
ORPHA:85186 — Endosteal sclerosis-cerebellar hypoplasia syndrome (OMIM: OMIM:614381)
ORPHA:85188 — Metaphyseal dysplasia, Braun-Tinschert type (OMIM: OMIM:605946)
ORPHA:85191 — Singleton-Merten dysplasia (OMIM: OMIM:182250, OMIM:616298)
ORPHA:85192 — Calvarial doughnut lesions-bone fragility syndrome (OMIM: OMIM:126550)
ORPHA:85193 — Idiopathic juvenile osteoporosis (OMIM: OMIM:259750, OMIM:615221)
ORPHA:85194 — Spondylo-ocular syndrome (OMIM: OMIM:605822)
ORPHA:85195 — Familial expansile osteolysis (OMIM: OMIM:174810)
ORPHA:85197 — Genochondromatosis type 1 (OMIM: OMIM:137360)
ORPHA:85199 — Craniosynostosis-anal anomalies-porokeratosis syndrome (OMIM: OMIM:603116)
ORPHA:852 — X-linked thrombocytopenia with normal platelets (OMIM: OMIM:313900)
ORPHA:85201 — Genitopatellar syndrome (OMIM: OMIM:606170)
ORPHA:85202 — Keutel syndrome (OMIM: OMIM:245150)
ORPHA:85203 — Acropectoral syndrome (OMIM: OMIM:605967)
ORPHA:85212 — Fetal Gaucher disease (OMIM: OMIM:608013)
ORPHA:85273 — X-linked intellectual disability, Abidi type (OMIM: OMIM:300262)
ORPHA:85274 — Syndromic X-linked intellectual disability 7 (OMIM: OMIM:300218)
ORPHA:85276 — X-linked intellectual disability, Armfield type (OMIM: OMIM:300261)
ORPHA:85277 — X-linked intellectual disability, Cantagrel type (OMIM: OMIM:300912)
ORPHA:85278 — Christianson syndrome (OMIM: OMIM:300243)
ORPHA:85279 — KDM5C-related syndromic X-linked intellectual disability (OMIM: OMIM:300534)
ORPHA:85280 — X-linked intellectual disability-cubitus valgus-dysmorphism syndrome (OMIM: OMIM:300471)
ORPHA:85282 — MEHMO syndrome (OMIM: OMIM:300148)
ORPHA:85283 — X-linked intellectual disability, Miles-Carpenter type (OMIM: OMIM:314580)
ORPHA:85284 — BRESEK syndrome (OMIM: OMIM:308205)
ORPHA:85285 — X-linked intellectual disability, Schimke type (OMIM: OMIM:312840)
ORPHA:85286 — X-linked intellectual disability, Shashi type (OMIM: OMIM:300238)
ORPHA:85287 — X-linked intellectual disability, Siderius type (OMIM: OMIM:300263)
ORPHA:85288 — X-linked intellectual disability, Stocco Dos Santos type (OMIM: OMIM:300434)
ORPHA:85290 — X-linked intellectual disability, Wilson type (OMIM: OMIM:309545)
ORPHA:85292 — X-linked spinocerebellar ataxia type 4 (OMIM: OMIM:301840)
ORPHA:85293 — X-linked intellectual disability, Cabezas type (OMIM: OMIM:300354)
ORPHA:85294 — X-linked epilepsy-learning disabilities-behavior disorders syndrome (OMIM: OMIM:300491)
ORPHA:85295 — HSD10 disease, atypical type (OMIM: OMIM:300438)
ORPHA:85297 — X-linked spinocerebellar ataxia type 3 (OMIM: OMIM:301790)
ORPHA:85321 — Deafness-intellectual disability syndrome, Martin-Probst type (OMIM: OMIM:300519)
ORPHA:85324 — X-linked intellectual disability, Shrimpton type (OMIM: OMIM:300709)
ORPHA:85329 — X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (OMIM: OMIM:304340)
ORPHA:85332 — X-linked intellectual disability-retinitis pigmentosa syndrome (OMIM: OMIM:300578)
ORPHA:85335 — Fried syndrome (OMIM: OMIM:304340)
ORPHA:85414 — Systemic-onset juvenile idiopathic arthritis (OMIM: OMIM:618795, OMIM:604302)
ORPHA:85442 — Short stature-pituitary and cerebellar defects-small sella turcica syndrome (OMIM: OMIM:262700)
ORPHA:85443 — AL amyloidosis (OMIM: OMIM:254500)
ORPHA:85447 — ATTRV30M amyloidosis (OMIM: OMIM:105210, OMIM:115430)
ORPHA:85448 — AGel amyloidosis (OMIM: OMIM:105120)
ORPHA:85450 — Hereditary amyloidosis with primary renal involvement (OMIM: OMIM:105200)
ORPHA:85451 — ATTRV122I amyloidosis (OMIM: OMIM:105210)
ORPHA:85453 — X-linked reticulate pigmentary disorder (OMIM: OMIM:301220)
ORPHA:85458 — Cerebral Amyloid Angiopathy (OMIM: OMIM:105150, OMIM:605714)
ORPHA:857 — Townes-Brocks syndrome (OMIM: OMIM:107480, OMIM:617466)
ORPHA:859 — Transcobalamin deficiency (OMIM: OMIM:275350)
ORPHA:86 — Familial abdominal aortic aneurysm (OMIM: OMIM:100070, OMIM:609782, OMIM:611891, OMIM:614375)
ORPHA:860 — Congenitally uncorrected transposition of the great arteries (OMIM: OMIM:608808, OMIM:613854)
ORPHA:861 — Treacher-Collins syndrome (OMIM: OMIM:618939, OMIM:154500, OMIM:248390, OMIM:613717)
ORPHA:86309 — DPAGT1-CDG (OMIM: OMIM:608093)
ORPHA:867 — Familial multiple trichoepithelioma (OMIM: OMIM:601606, OMIM:612099)
ORPHA:86788 — X-linked severe congenital neutropenia (OMIM: OMIM:300299)
ORPHA:86789 — Isolated patella aplasia/hypoplasia (OMIM: OMIM:168860)
ORPHA:868 — Triose phosphate-isomerase deficiency (OMIM: OMIM:615512)
ORPHA:86812 — POMT1-related limb-girdle muscular dystrophy R11 (OMIM: OMIM:609308)
ORPHA:86813 — Helicoid peripapillary chorioretinal degeneration (OMIM: OMIM:108985)
ORPHA:86814 — Benign adult familial myoclonic epilepsy (OMIM: OMIM:601068, OMIM:607876, OMIM:613608, OMIM:615127, OMIM:615400)
ORPHA:86815 — Aplasia of lacrimal and salivary glands (OMIM: OMIM:180920)
ORPHA:86816 — Congenital analbuminemia (OMIM: OMIM:616000)
ORPHA:86817 — Hemolytic anemia due to adenylate kinase deficiency (OMIM: OMIM:612631)
ORPHA:86818 — Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome (OMIM: OMIM:300194, OMIM:300990)
ORPHA:86819 — Atrichia with papular lesions (OMIM: OMIM:209500)
ORPHA:86820 — Familial avascular necrosis of femoral head (OMIM: OMIM:608805, OMIM:617383)
ORPHA:86821 — Lissencephaly type 3-familial fetal akinesia sequence syndrome (OMIM: OMIM:601160)
ORPHA:86822 — Lissencephaly type 3-metacarpal bone dysplasia syndrome (OMIM: OMIM:601160)
ORPHA:86830 — Chronic myeloproliferative disease, unclassifiable (OMIM: OMIM:131440)
ORPHA:86834 — Juvenile myelomonocytic leukemia (OMIM: OMIM:607785)
ORPHA:86841 — Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality (OMIM: OMIM:153550)
ORPHA:86845 — Acute myeloid leukaemia with myelodysplasia-related features (OMIM: OMIM:601626)
ORPHA:86846 — Therapy related acute myeloid leukemia and myelodysplastic syndrome (OMIM: OMIM:601626)
ORPHA:86851 — Acute leukemia of ambiguous lineage (OMIM: OMIM:601626)
ORPHA:86884 — Subcutaneous panniculitis-like T-cell lymphoma (OMIM: OMIM:618398)
ORPHA:869 — Triple A syndrome (OMIM: OMIM:231550, OMIM:615510)
ORPHA:86900 — Interdigitating dendritic cell sarcoma (OMIM: OMIM:267730)
ORPHA:86914 — Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome (OMIM: OMIM:152900)
ORPHA:86915 — Lymphedema-atrial septal defects-facial changes syndrome (OMIM: OMIM:601927)
ORPHA:86919 — Keratosis palmaris et plantaris-clinodactyly syndrome (OMIM: OMIM:148520)
ORPHA:86920 — Dermatopathia pigmentosa reticularis (OMIM: OMIM:125595)
ORPHA:86923 — Hereditary palmoplantar keratoderma, Gamborg-Nielsen type (OMIM: OMIM:244850)
ORPHA:87 — Apert syndrome (OMIM: OMIM:101200)
ORPHA:870 — Down syndrome (OMIM: OMIM:190685)
ORPHA:871 — Familial progressive cardiac conduction defect (OMIM: OMIM:113900, OMIM:115080, OMIM:140400, OMIM:604559, OMIM:612838)
ORPHA:873 — Desmoid tumor (OMIM: OMIM:135290)
ORPHA:87503 — Mal de Meleda (OMIM: OMIM:248300)
ORPHA:876 — Yolk sac tumor (OMIM: OMIM:273300)
ORPHA:87876 — Sialidosis type 2 (OMIM: OMIM:256150, OMIM:256550)
ORPHA:88 — Idiopathic aplastic anemia (OMIM: OMIM:609135, OMIM:614742, OMIM:614743)
ORPHA:882 — Tyrosinemia type 1 (OMIM: OMIM:276700)
ORPHA:884 — Tetrasomy 12p syndrome (OMIM: OMIM:601803)
ORPHA:886 — Usher syndrome (OMIM: OMIM:612632, OMIM:614504, OMIM:614869, OMIM:614990, OMIM:276900, OMIM:276901, OMIM:276902, OMIM:276904, OMIM:500004, OMIM:601067, OMIM:602083, OMIM:602097, OMIM:605472, OMIM:606943, OMIM:611383)
ORPHA:88616 — Autosomal recessive non-syndromic intellectual disability (OMIM: OMIM:616887, OMIM:618687, OMIM:618221, OMIM:617125, OMIM:617709, OMIM:618109, OMIM:617188, OMIM:619988, OMIM:619931, OMIM:617028, OMIM:614202, OMIM:614208, OMIM:614249, OMIM:614329, OMIM:614333, OMIM:614340, OMIM:614341, OMIM:614342, OMIM:614343, OMIM:614344, OMIM:614345, OMIM:614346, OMIM:614347, OMIM:614499, OMIM:615802, OMIM:615817, OMIM:615942, OMIM:615979, OMIM:616116, OMIM:616193, OMIM:616460, OMIM:616739, OMIM:249500, OMIM:607417, OMIM:608443, OMIM:611090, OMIM:611091, OMIM:611092, OMIM:611093, OMIM:611095, OMIM:611096, OMIM:611097, OMIM:611107, OMIM:613192, OMIM:614020, OMIM:617816, OMIM:618402)
ORPHA:88618 — S-adenosylhomocysteine hydrolase deficiency (OMIM: OMIM:613752)
ORPHA:88619 — Familial acute necrotizing encephalopathy (OMIM: OMIM:608033)
ORPHA:88620 — Isolated congenital anosmia (OMIM: OMIM:107200)
ORPHA:88621 — Ichthyosis-prematurity syndrome (OMIM: OMIM:608649)
ORPHA:88628 — Posterior column ataxia-retinitis pigmentosa syndrome (OMIM: OMIM:609033)
ORPHA:88629 — Tritanopia (OMIM: OMIM:190900)
ORPHA:88630 — Terminal osseous dysplasia-pigmentary defects syndrome (OMIM: OMIM:300244)
ORPHA:88632 — Anterior segment developmental anomaly (OMIM: OMIM:617319, OMIM:617315, OMIM:107250)
ORPHA:88635 — Vacuolar myopathy with sarcoplasmic reticulum protein aggregates (OMIM: OMIM:616231)
ORPHA:88637 — Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome (OMIM: OMIM:607694, OMIM:614381, OMIM:616494)
ORPHA:88639 — Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (OMIM: OMIM:250620)
ORPHA:88642 — Congenital insensitivity to pain-anosmia-neuropathic arthropathy (OMIM: OMIM:243000)
ORPHA:88644 — Autosomal recessive ataxia, Beauce type (OMIM: OMIM:610743)
ORPHA:88659 — Autosomal dominant progressive nephropathy with hypertension (OMIM: OMIM:161900)
ORPHA:88661 — Amelogenesis imperfecta (OMIM: OMIM:620104, OMIM:130900, OMIM:204650, OMIM:204700, OMIM:301200, OMIM:301201, OMIM:612529, OMIM:613211, OMIM:614832, OMIM:615887, OMIM:616221, OMIM:616270, OMIM:104500, OMIM:104510, OMIM:104530, OMIM:617217)
ORPHA:88673 — Hepatocellular carcinoma (OMIM: OMIM:114550)
ORPHA:887 — VACTERL/VATER association (OMIM: OMIM:192350)
ORPHA:888 — Van der Woude syndrome (OMIM: OMIM:119300, OMIM:604547, OMIM:606713)
ORPHA:88917 — X-linked Alport syndrome (OMIM: OMIM:301050)
ORPHA:88918 — Autosomal dominant Alport syndrome (OMIM: OMIM:104200)
ORPHA:88919 — Autosomal recessive Alport syndrome (OMIM: OMIM:203780, OMIM:620536)
ORPHA:88924 — Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (OMIM: OMIM:600273)
ORPHA:88938 — Pseudohypoaldosteronism type 2A (OMIM: OMIM:145260)
ORPHA:88939 — Pseudohypoaldosteronism type 2B (OMIM: OMIM:614491)
ORPHA:88940 — Pseudohypoaldosteronism type 2C (OMIM: OMIM:614492)
ORPHA:88949 — MUC1-related autosomal dominant tubulointerstitial kidney disease (OMIM: OMIM:174000)
ORPHA:88950 — UMOD-related autosomal dominant tubulointerstitial kidney disease (OMIM: OMIM:162000)
ORPHA:891 — Familial exudative vitreoretinopathy (OMIM: OMIM:133780, OMIM:305390, OMIM:601813, OMIM:605750, OMIM:613310, OMIM:616468, OMIM:617572)
ORPHA:892 — Von Hippel-Lindau disease (OMIM: OMIM:193300)
ORPHA:893 — WAGR syndrome (OMIM: OMIM:194072, OMIM:612469)
ORPHA:894 — Waardenburg syndrome type 1 (OMIM: OMIM:193500)
ORPHA:895 — Waardenburg syndrome type 2 (OMIM: OMIM:619947, OMIM:193510, OMIM:600193, OMIM:606662, OMIM:611584)
ORPHA:896 — Waardenburg syndrome type 3 (OMIM: OMIM:148820)
ORPHA:897 — Waardenburg-Shah syndrome (OMIM: OMIM:277580, OMIM:613265, OMIM:613266)
ORPHA:898 — Wagner disease (OMIM: OMIM:143200)
ORPHA:89838 — Autosomal recessive generalized epidermolysis bullosa simplex (OMIM: OMIM:619599, OMIM:601001)
ORPHA:89843 — Dystrophic epidermolysis bullosa pruriginosa (OMIM: OMIM:604129)
ORPHA:89844 — Lissencephaly syndrome, Norman-Roberts type (OMIM: OMIM:257320)
ORPHA:899 — Walker-Warburg syndrome (OMIM: OMIM:236670, OMIM:253280, OMIM:253800, OMIM:613150, OMIM:613153, OMIM:613154, OMIM:614643, OMIM:614830, OMIM:615041, OMIM:615181, OMIM:615249, OMIM:615287, OMIM:616538)
ORPHA:89936 — X-linked hypophosphatemia (OMIM: OMIM:307800)
ORPHA:89937 — Autosomal dominant hypophosphatemic rickets (OMIM: OMIM:193100)
ORPHA:89938 — Bartter syndrome type 4 (OMIM: OMIM:602522, OMIM:613090)
ORPHA:90 — Argininemia (OMIM: OMIM:207800)
ORPHA:900 — Granulomatosis with polyangiitis (OMIM: OMIM:608710)
ORPHA:90001 — X-linked cone dysfunction syndrome with myopia (OMIM: OMIM:300843)
ORPHA:90020 — Parkinson-dementia complex of Guam (OMIM: OMIM:105500)
ORPHA:90023 — Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency (OMIM: OMIM:610798)
ORPHA:90024 — Deafness with labyrinthine aplasia, microtia, and microdontia (OMIM: OMIM:610706)
ORPHA:90026 — Primary erythromelalgia (OMIM: OMIM:133020)
ORPHA:90030 — Hemolytic anemia due to glutathione reductase deficiency (OMIM: OMIM:618660)
ORPHA:90031 — Non-spherocytic hemolytic anemia due to hexokinase deficiency (OMIM: OMIM:235700)
ORPHA:90038 — Shiga toxin-associated hemolytic uremic syndrome (OMIM: OMIM:235400)
ORPHA:90042 — Primary familial polycythemia (OMIM: OMIM:133100)
ORPHA:90044 — Familial pseudohyperkalemia (OMIM: OMIM:609153)
ORPHA:90045 — Hereditary folate malabsorption (OMIM: OMIM:229050)
ORPHA:90050 — Retinopathy of prematurity (OMIM: OMIM:133780)
ORPHA:90103 — Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome (OMIM: OMIM:214370)
ORPHA:90117 — Hereditary motor and sensory neuropathy, Okinawa type (OMIM: OMIM:604484)
ORPHA:90120 — Hereditary motor and sensory neuropathy type 6 (OMIM: OMIM:601152, OMIM:616505)
ORPHA:90153 — Mandibuloacral dysplasia with type A lipodystrophy (OMIM: OMIM:248370)
ORPHA:90154 — Mandibuloacral dysplasia with type B lipodystrophy (OMIM: OMIM:608612)
ORPHA:90186 — Meige disease (OMIM: OMIM:153200)
ORPHA:902 — Werner syndrome (OMIM: OMIM:277700)
ORPHA:90291 — Systemic sclerosis (OMIM: OMIM:181750)
ORPHA:903 — Von Willebrand disease (OMIM: OMIM:193400, OMIM:277480, OMIM:314560, OMIM:613554)
ORPHA:90301 — Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome (OMIM: OMIM:200170)
ORPHA:90307 — Parkes Weber syndrome (OMIM: OMIM:608354)
ORPHA:90308 — Klippel-Trénaunay syndrome (OMIM: OMIM:149000)
ORPHA:90321 — Cockayne syndrome type 1 (OMIM: OMIM:133540, OMIM:216400)
ORPHA:90322 — Cockayne syndrome type 2 (OMIM: OMIM:133540, OMIM:216400)
ORPHA:90324 — Cockayne syndrome type 3 (OMIM: OMIM:133540, OMIM:216400)
ORPHA:90340 — Blau syndrome (OMIM: OMIM:186580)
ORPHA:90342 — Xeroderma pigmentosum variant (OMIM: OMIM:278750)
ORPHA:90348 — Autosomal dominant cutis laxa (OMIM: OMIM:123700, OMIM:614434, OMIM:616603)
ORPHA:90349 — Autosomal recessive cutis laxa type 1 (OMIM: OMIM:614437, OMIM:219100)
ORPHA:90354 — Brittle cornea syndrome (OMIM: OMIM:229200, OMIM:614170)
ORPHA:90362 — Primary intestinal lymphangiectasia (OMIM: OMIM:152800)
ORPHA:90368 — Hypotrichosis simplex of the scalp (OMIM: OMIM:613981, OMIM:146520)
ORPHA:90390 — Anonychia-onychodystrophy syndrome (OMIM: OMIM:107000, OMIM:614149)
ORPHA:904 — Williams syndrome (OMIM: OMIM:194050)
ORPHA:905 — Wilson disease (OMIM: OMIM:277900)
ORPHA:906 — Wiskott-Aldrich syndrome (OMIM: OMIM:301000, OMIM:600903, OMIM:614493)
ORPHA:90625 — Rare X-linked non-syndromic sensorineural deafness type DFN (OMIM: OMIM:300030, OMIM:300066, OMIM:300914, OMIM:304500)
ORPHA:90635 — Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (OMIM: OMIM:616697, OMIM:618915, OMIM:616969, OMIM:618787, OMIM:618533, OMIM:618778, OMIM:609129, OMIM:609965, OMIM:612431, OMIM:612642, OMIM:612643, OMIM:612644, OMIM:620227, OMIM:613074, OMIM:613558, OMIM:614152, OMIM:614211, OMIM:614614, OMIM:615629, OMIM:615649, OMIM:615654, OMIM:616044, OMIM:616340, OMIM:616357, OMIM:616707, OMIM:619081, OMIM:617605, OMIM:617606, OMIM:601544, OMIM:601868, OMIM:602459, OMIM:603622, OMIM:603964, OMIM:604717, OMIM:605192, OMIM:605583, OMIM:606012, OMIM:606282, OMIM:606346, OMIM:606451, OMIM:606705, OMIM:607017, OMIM:607197, OMIM:607453, OMIM:607841, OMIM:608224, OMIM:608372, OMIM:608394, OMIM:608641, OMIM:608645, OMIM:608652, OMIM:617663, OMIM:616968, OMIM:619274, OMIM:618140, OMIM:618410, OMIM:600101, OMIM:600652, OMIM:600965, OMIM:619086, OMIM:600994, OMIM:601316, OMIM:601317, OMIM:601369, OMIM:601412, OMIM:601543, OMIM:618094)
ORPHA:90636 — Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (OMIM: OMIM:616042, OMIM:616515, OMIM:616705, OMIM:612645, OMIM:612789, OMIM:613079, OMIM:619093, OMIM:613285, OMIM:613307, OMIM:613391, OMIM:618145, OMIM:613392, OMIM:613453, OMIM:613685, OMIM:613718, OMIM:613865, OMIM:613916, OMIM:614035, OMIM:614414, OMIM:614617, OMIM:619174, OMIM:614861, OMIM:614899, OMIM:614934, OMIM:614944, OMIM:614945, OMIM:615429, OMIM:615540, OMIM:615837, OMIM:615974, OMIM:608265, OMIM:608565, OMIM:608653, OMIM:609006, OMIM:609439, OMIM:609533, OMIM:609646, OMIM:609647, OMIM:609706, OMIM:609823, OMIM:609941, OMIM:609946, OMIM:609952, OMIM:610143, OMIM:610153, OMIM:610154, OMIM:610212, OMIM:610220, OMIM:610248, OMIM:610265, OMIM:610419, OMIM:611022, OMIM:611451, OMIM:612433, OMIM:600791, OMIM:600792, OMIM:600971, OMIM:600974, OMIM:601071, OMIM:601072, OMIM:601386, OMIM:601869, OMIM:602092, OMIM:603010, OMIM:603098, OMIM:603629, OMIM:603678, OMIM:603720, OMIM:604060, OMIM:605428, OMIM:605818, OMIM:607039, OMIM:607084, OMIM:607101, OMIM:607239, OMIM:607821, OMIM:608219, OMIM:608264, OMIM:220290, OMIM:600060, OMIM:600316, OMIM:617639, OMIM:618456, OMIM:620238, OMIM:618434, OMIM:618257, OMIM:617637, OMIM:617654, OMIM:618422, OMIM:619500, OMIM:619615, OMIM:619804, OMIM:618481, OMIM:618410)
ORPHA:90641 — Rare mitochondrial non-syndromic sensorineural deafness (OMIM: OMIM:580000, OMIM:304400, OMIM:221745, OMIM:500008)
ORPHA:90646 — Deafness-hypogonadism syndrome (OMIM: OMIM:304350)
ORPHA:90647 — Jervell and Lange-Nielsen syndrome (OMIM: OMIM:220400, OMIM:612347)
ORPHA:90650 — Otopalatodigital syndrome type 1 (OMIM: OMIM:311300)
ORPHA:90652 — Otopalatodigital syndrome type 2 (OMIM: OMIM:304120)
ORPHA:90653 — Stickler syndrome type 1 (OMIM: OMIM:108300, OMIM:609508)
ORPHA:90654 — Stickler syndrome type 2 (OMIM: OMIM:604841)
ORPHA:90658 — Charcot-Marie-Tooth disease type 1E (OMIM: OMIM:118300)
ORPHA:90673 — Hypothyroidism due to TSH receptor mutations (OMIM: OMIM:275200)
ORPHA:90674 — Isolated thyroid-stimulating hormone deficiency (OMIM: OMIM:275100)
ORPHA:90695 — Non-acquired panhypopituitarism (OMIM: OMIM:262600, OMIM:312000)
ORPHA:90790 — Congenital lipoid adrenal hyperplasia due to STAR deficency (OMIM: OMIM:201710)
ORPHA:90791 — Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (OMIM: OMIM:201810)
ORPHA:90793 — Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (OMIM: OMIM:202110)
ORPHA:90794 — Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (OMIM: OMIM:201910)
ORPHA:90795 — Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (OMIM: OMIM:202010)
ORPHA:90796 — 46,XY difference of sex development due to isolated 17,20-lyase deficiency (OMIM: OMIM:202110)
ORPHA:90797 — Partial androgen insensitivity syndrome (OMIM: OMIM:312300)
ORPHA:908 — Fragile X syndrome (OMIM: OMIM:300624, OMIM:311360)
ORPHA:909 — Cerebrotendinous xanthomatosis (OMIM: OMIM:213700)
ORPHA:91 — Aromatase deficiency (OMIM: OMIM:613546)
ORPHA:910 — Xeroderma pigmentosum (OMIM: OMIM:278700, OMIM:278720, OMIM:278730, OMIM:278740, OMIM:278760, OMIM:278780, OMIM:610651)
ORPHA:911 — Combined immunodeficiency due to ZAP70 deficiency (OMIM: OMIM:269840)
ORPHA:91130 — Cardiomyopathy-hypotonia-lactic acidosis syndrome (OMIM: OMIM:610773)
ORPHA:91131 — DK1-CDG (OMIM: OMIM:610768)
ORPHA:91132 — Ichthyosis-hypotrichosis syndrome (OMIM: OMIM:602400)
ORPHA:91135 — Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency (OMIM: OMIM:610842)
ORPHA:91138 — Cryoglobulinemic vasculitis (OMIM: OMIM:123550)