TaoMedAI/RareMedData huggingface dataset:
ORPHA:31709 — Infantile convulsions and choreoathetosis (OMIM: OMIM:602066)
ORPHA:3172 — Eyebrow duplication-syndactyly syndrome (OMIM: OMIM:227210)
ORPHA:31740 — Hypersensitivity pneumonitis (OMIM: OMIM:145300)
ORPHA:317425 — Severe combined immunodeficiency due to DNA-PKcs deficiency (OMIM: OMIM:615966)
ORPHA:317428 — Combined immunodeficiency due to ORAI1 deficiency (OMIM: OMIM:612782)
ORPHA:317430 — Combined immunodeficiency due to STIM1 deficiency (OMIM: OMIM:612783)
ORPHA:317473 — Pancytopenia due to IKZF1 mutations (OMIM: OMIM:616873)
ORPHA:317476 — XMEN (OMIM: OMIM:300853)
ORPHA:3175 — X-linked spasticity-intellectual disability-epilepsy syndrome (OMIM: OMIM:308350)
ORPHA:3177 — Spinocerebellar degeneration-corneal dystrophy syndrome (OMIM: OMIM:271310)
ORPHA:318 — Acute erythroid leukemia (OMIM: OMIM:133180)
ORPHA:3180 — Spondylocamptodactyly syndrome (OMIM: OMIM:600000)
ORPHA:3181 — Sprengel deformity (OMIM: OMIM:184400)
ORPHA:31837 — Pulmonary venoocclusive disease (OMIM: OMIM:265450)
ORPHA:3184 — Steatocystoma multiplex-natal teeth syndrome (OMIM: OMIM:184510)
ORPHA:3186 — Holoprosencephaly-radial heart renal anomalies syndrome (OMIM: OMIM:184705)
ORPHA:3189 — Congenital pulmonary valvar stenosis (OMIM: OMIM:265500)
ORPHA:319 — Skeletal Ewing sarcoma (OMIM: OMIM:612219)
ORPHA:3191 — Subaortic stenosis-short stature syndrome (OMIM: OMIM:271960)
ORPHA:319160 — Congenital myopathy with internal nuclei and atypical cores (OMIM: OMIM:614807)
ORPHA:319182 — Wiedemann-Steiner syndrome (OMIM: OMIM:605130)
ORPHA:319189 — Familial cortical myoclonus (OMIM: OMIM:614937)
ORPHA:319192 — Diencephalic-mesencephalic junction dysplasia (OMIM: OMIM:251280, OMIM:618646)
ORPHA:319199 — Autosomal recessive spastic paraplegia type 53 (OMIM: OMIM:614898)
ORPHA:3193 — Supravalvular aortic stenosis (OMIM: OMIM:185500)
ORPHA:319308 — MiT family translocation renal cell carcinoma (OMIM: OMIM:300854)
ORPHA:319332 — Autosomal recessive myogenic arthrogryposis multiplex congenita (OMIM: OMIM:618484)
ORPHA:319340 — Carney complex-trismus-pseudocamptodactyly syndrome (OMIM: OMIM:608837)
ORPHA:3194 — Corneodermatoosseous syndrome (OMIM: OMIM:122440)
ORPHA:319462 — Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations (OMIM: OMIM:605724)
ORPHA:319465 — Inherited acute myeloid leukemia (OMIM: OMIM:601626)
ORPHA:319480 — Acute myeloid leukemia with CEBPA somatic mutations (OMIM: OMIM:601626)
ORPHA:319487 — Familial papillary or follicular thyroid carcinoma (OMIM: OMIM:188470, OMIM:188550, OMIM:603386, OMIM:603744, OMIM:606240, OMIM:616534, OMIM:616535)
ORPHA:319504 — Combined oxidative phosphorylation defect type 8 (OMIM: OMIM:614096)
ORPHA:319509 — Combined oxidative phosphorylation defect type 9 (OMIM: OMIM:614582)
ORPHA:319514 — Combined oxidative phosphorylation defect type 13 (OMIM: OMIM:614932)
ORPHA:319519 — Combined oxidative phosphorylation defect type 14 (OMIM: OMIM:614946)
ORPHA:319524 — Combined oxidative phosphorylation defect type 15 (OMIM: OMIM:614947)
ORPHA:319547 — Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency (OMIM: OMIM:614889)
ORPHA:319552 — Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency (OMIM: OMIM:614891)
ORPHA:319558 — Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency (OMIM: OMIM:614890)
ORPHA:319563 — Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency (OMIM: OMIM:616126)
ORPHA:319569 — Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency (OMIM: OMIM:209950)
ORPHA:319574 — Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency (OMIM: OMIM:614889)
ORPHA:319581 — Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency (OMIM: OMIM:615978)
ORPHA:319595 — Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency (OMIM: OMIM:614892)
ORPHA:319600 — Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency (OMIM: OMIM:614893)
ORPHA:319605 — X-linked mendelian susceptibility to mycobacterial diseases (OMIM: OMIM:300636, OMIM:300645)
ORPHA:319612 — X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (OMIM: OMIM:300636)
ORPHA:319623 — X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency (OMIM: OMIM:300645)
ORPHA:319635 — Amyloidosis cutis dyschromia (OMIM: OMIM:617920)
ORPHA:319640 — Retinal macular dystrophy type 2 (OMIM: OMIM:608051)
ORPHA:319646 — PGM1-CDG (OMIM: OMIM:614921)
ORPHA:319651 — Constitutional megaloblastic anemia with severe neurologic disease (OMIM: OMIM:613839)
ORPHA:319671 — Alazami syndrome (OMIM: OMIM:615071)
ORPHA:319675 — Microcephalic primordial dwarfism, Dauber type (OMIM: OMIM:614851)
ORPHA:319678 — Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome (OMIM: OMIM:614654, OMIM:616733)
ORPHA:3197 — Hereditary hyperekplexia (OMIM: OMIM:618011, OMIM:149400, OMIM:614618, OMIM:614619)
ORPHA:3198 — Stiff person spectrum disorder (OMIM: OMIM:184850)
ORPHA:3199 — Stimmler syndrome (OMIM: OMIM:202900)
ORPHA:32 — Glutathione synthetase deficiency (OMIM: OMIM:231900, OMIM:266130)
ORPHA:320 — Apparent mineralocorticoid excess (OMIM: OMIM:218030)
ORPHA:3200 — Arthrogryposis-ectodermal dysplasia syndrome (OMIM: OMIM:601701)
ORPHA:3201 — Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome (OMIM: OMIM:192445)
ORPHA:3202 — Dehydrated hereditary stomatocytosis (OMIM: OMIM:194380, OMIM:616689)
ORPHA:3203 — Overhydrated hereditary stomatocytosis (OMIM: OMIM:185000)
ORPHA:320355 — Autosomal dominant spastic paraplegia type 41 (OMIM: OMIM:613364)
ORPHA:320365 — Autosomal dominant spastic paraplegia type 36 (OMIM: OMIM:613096)
ORPHA:320370 — Autosomal recessive spastic paraplegia type 43 (OMIM: OMIM:615043)
ORPHA:320375 — Autosomal recessive spastic paraplegia type 55 (OMIM: OMIM:615035)
ORPHA:320380 — Autosomal recessive spastic paraplegia type 54 (OMIM: OMIM:615033)
ORPHA:320385 — Hereditary sensory and autonomic neuropathy due to TECPR2 mutation (OMIM: OMIM:615031)
ORPHA:320391 — Autosomal recessive spastic paraplegia type 46 (OMIM: OMIM:614409)
ORPHA:320396 — Autosomal recessive spastic paraplegia type 45 (OMIM: OMIM:613162)
ORPHA:3204 — Stormorken-Sjaastad-Langslet syndrome (OMIM: OMIM:185070)
ORPHA:320401 — Autosomal recessive spastic paraplegia type 44 (OMIM: OMIM:613206)
ORPHA:320406 — Spastic paraplegia-optic atrophy-neuropathy syndrome (OMIM: OMIM:609541)
ORPHA:320411 — Autosomal recessive spastic paraplegia type 56 (OMIM: OMIM:615030)
ORPHA:3205 — Sturge-Weber syndrome (OMIM: OMIM:185300)
ORPHA:3206 — Stüve-Wiedemann syndrome (OMIM: OMIM:601559)
ORPHA:3208 — Isolated succinate-CoQ reductase deficiency (OMIM: OMIM:619167, OMIM:619166, OMIM:619224, OMIM:252011)
ORPHA:321 — Multiple osteochondromas (OMIM: OMIM:133700, OMIM:133701, OMIM:600209)
ORPHA:3214 — Deaf blind hypopigmentation syndrome, Yemenite type (OMIM: OMIM:601706)
ORPHA:3216 — Conductive deafness-malformed external ear syndrome (OMIM: OMIM:221300)
ORPHA:3217 — Deafness-small bowel diverticulosis-neuropathy syndrome (OMIM: OMIM:221400)
ORPHA:3218 — Deafness-epiphyseal dysplasia-short stature syndrome (OMIM: OMIM:601351)
ORPHA:3219 — Fountain syndrome (OMIM: OMIM:229120)
ORPHA:322 — Exstrophy-epispadias complex (OMIM: OMIM:258040, OMIM:600057)
ORPHA:3220 — Deafness-enamel hypoplasia-nail defects syndrome (OMIM: OMIM:234580, OMIM:616617)
ORPHA:3222 — Phosphoribosylpyrophosphate synthetase superactivity (OMIM: OMIM:300661)
ORPHA:3230 — Deafness-oligodontia syndrome (OMIM: OMIM:221740)
ORPHA:3231 — Deafness-onychodystrophy syndrome (OMIM: OMIM:124480, OMIM:220500)
ORPHA:3232 — Deafness-ear malformation-facial palsy syndrome (OMIM: OMIM:124490)
ORPHA:3233 — Cochleosaccular degeneration-cataract syndrome (OMIM: OMIM:120040)
ORPHA:3235 — Progressive deafness with stapes fixation (OMIM: OMIM:601449)
ORPHA:3236 — Conductive deafness-ptosis-skeletal anomalies syndrome (OMIM: OMIM:221320)
ORPHA:3237 — Multiple synostoses syndrome (OMIM: OMIM:186500, OMIM:610017, OMIM:612961)
ORPHA:3238 — Cardiospondylocarpofacial syndrome (OMIM: OMIM:157800)
ORPHA:3239 — Deafness-vitiligo-achalasia syndrome (OMIM: OMIM:221350)
ORPHA:324 — Fabry disease (OMIM: OMIM:301500)
ORPHA:3241 — Deafness-craniofacial syndrome (OMIM: OMIM:125230)
ORPHA:3242 — Renpenning syndrome (OMIM: OMIM:309500)
ORPHA:324262 — Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (OMIM: OMIM:614831)
ORPHA:324290 — Early-onset Lafora body disease (OMIM: OMIM:616640)
ORPHA:324294 — T-cell immunodeficiency with epidermodysplasia verruciformis (OMIM: OMIM:618307)
ORPHA:3243 — Sweet syndrome (OMIM: OMIM:608068)
ORPHA:324321 — Sinoatrial node dysfunction and deafness (OMIM: OMIM:614896)
ORPHA:324410 — X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (OMIM: OMIM:300886)
ORPHA:324422 — ALG13-CDG (OMIM: OMIM:300884)
ORPHA:324442 — Autosomal recessive axonal neuropathy with neuromyotonia (OMIM: OMIM:137200)
ORPHA:324530 — Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation (OMIM: OMIM:614878)
ORPHA:324535 — Combined oxidative phosphorylation defect type 11 (OMIM: OMIM:614922)
ORPHA:324561 — Hypopigmentation-punctate palmoplantar keratoderma syndrome (OMIM: OMIM:615522)
ORPHA:324569 — Pontocerebellar hypoplasia type 8 (OMIM: OMIM:614961)
ORPHA:324588 — Familial dyskinesia and facial myokymia (OMIM: OMIM:606703)
ORPHA:3246 — Symphalangism with multiple anomalies of hands and feet (OMIM: OMIM:185750)
ORPHA:324601 — X-linked cleft palate and ankyloglossia (OMIM: OMIM:303400)
ORPHA:324604 — Classic multiminicore myopathy (OMIM: OMIM:602771)
ORPHA:324703 — ABetaL34V amyloidosis (OMIM: OMIM:605714)
ORPHA:324708 — ABeta amyloidosis, Iowa type (OMIM: OMIM:605714)
ORPHA:324713 — ABeta amyloidosis, Italian type (OMIM: OMIM:605714)
ORPHA:324718 — ABetaA21G amyloidosis (OMIM: OMIM:605714)
ORPHA:324723 — ABeta amyloidosis, Arctic type (OMIM: OMIM:605714)
ORPHA:324737 — SRD5A3-CDG (OMIM: OMIM:612379)
ORPHA:3248 — Isolated distal symphalangism (OMIM: OMIM:185700)
ORPHA:324964 — Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis (OMIM: OMIM:259680)
ORPHA:324977 — Proteasome-associated autoinflammatory syndrome (OMIM: OMIM:619175, OMIM:619183, OMIM:618048, OMIM:617591, OMIM:256040)
ORPHA:325 — Congenital factor II deficiency (OMIM: OMIM:613679)
ORPHA:3250 — Proximal symphalangism (OMIM: OMIM:185800, OMIM:615298)
ORPHA:3253 — Cleft lip/palate-ectodermal dysplasia syndrome (OMIM: OMIM:225060)
ORPHA:325448 — Leydig cell hypoplasia due to LHB deficiency (OMIM: OMIM:228300)
ORPHA:3255 — Filippi syndrome (OMIM: OMIM:272440)
ORPHA:3258 — Cenani-Lenz syndrome (OMIM: OMIM:212780)
ORPHA:3259 — Syndactyly-polydactyly-ear lobe syndrome (OMIM: OMIM:186350)
ORPHA:326 — Congenital factor V deficiency (OMIM: OMIM:227400)
ORPHA:3260 — Idiopathic hypereosinophilic syndrome (OMIM: OMIM:607685)
ORPHA:3261 — Autoimmune lymphoproliferative syndrome (OMIM: OMIM:618534, OMIM:601859, OMIM:603909)
ORPHA:3265 — Isolated humero-radial synostosis (OMIM: OMIM:236400)
ORPHA:3268 — Radioulnar synostosis-microcephaly-scoliosis syndrome (OMIM: OMIM:603438)
ORPHA:3269 — Isolated radio-ulnar synostosis (OMIM: OMIM:179300)
ORPHA:327 — Congenital factor VII deficiency (OMIM: OMIM:227500)
ORPHA:3270 — Radioulnar synostosis-developmental delay-hypotonia syndrome (OMIM: OMIM:266255)
ORPHA:3273 — Synovial sarcoma (OMIM: OMIM:300813)
ORPHA:3275 — Spondylocarpotarsal synostosis (OMIM: OMIM:272460)
ORPHA:328 — Congenital factor X deficiency (OMIM: OMIM:227600)
ORPHA:3280 — Syringomyelia (OMIM: OMIM:186700)
ORPHA:3286 — Catecholaminergic polymorphic ventricular tachycardia (OMIM: OMIM:604772, OMIM:611938, OMIM:614021, OMIM:614916, OMIM:615441)
ORPHA:3287 — Takayasu arteritis (OMIM: OMIM:207600)
ORPHA:329 — Congenital factor XI deficiency (OMIM: OMIM:612416)
ORPHA:3291 — Teebi-Shaltout syndrome (OMIM: OMIM:272950)
ORPHA:329173 — Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (OMIM: OMIM:615895)
ORPHA:329178 — Congenital muscular dystrophy with intellectual disability and severe epilepsy (OMIM: OMIM:615042)
ORPHA:329191 — Tall stature-long halluces-multiple extra-epiphyses syndrome (OMIM: OMIM:615923)
ORPHA:329195 — Developmental delay with autism spectrum disorder and gait instability (OMIM: OMIM:615516)
ORPHA:3292 — Tel Hashomer camptodactyly syndrome (OMIM: OMIM:211960)
ORPHA:329211 — Autosomal dominant neovascular inflammatory vitreoretinopathy (OMIM: OMIM:193235)
ORPHA:329224 — Schuurs-Hoeijmakers syndrome (OMIM: OMIM:615009)
ORPHA:329228 — Microcephalic primordial dwarfism due to ZNF335 deficiency (OMIM: OMIM:615095)
ORPHA:329235 — X-linked central congenital hypothyroidism with late-onset testicular enlargement (OMIM: OMIM:300888)
ORPHA:329242 — Congenital chronic diarrhea with protein-losing enteropathy (OMIM: OMIM:618183, OMIM:615863)
ORPHA:329258 — Autosomal dominant Charcot-Marie-Tooth disease type 2Q (OMIM: OMIM:615025)
ORPHA:329284 — Beta-propeller protein-associated neurodegeneration (OMIM: OMIM:300894)
ORPHA:329308 — Fatty acid hydroxylase-associated neurodegeneration (OMIM: OMIM:612319)
ORPHA:329314 — Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (OMIM: OMIM:617070)
ORPHA:329332 — Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome (OMIM: OMIM:614407)
ORPHA:329336 — Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (OMIM: OMIM:616479)
ORPHA:3294 — Extensor tendons of finger anomalies (OMIM: OMIM:187390)
ORPHA:329457 — Distal arthrogryposis type 5D (OMIM: OMIM:615065)
ORPHA:329466 — Autosomal dominant focal dystonia, DYT25 type (OMIM: OMIM:615073)
ORPHA:329481 — Lipoprotein glomerulopathy (OMIM: OMIM:611771)
ORPHA:32960 — Tumor necrosis factor receptor 1 associated periodic syndrome (OMIM: OMIM:142680)
ORPHA:329802 — 5p13 microduplication syndrome (OMIM: OMIM:613174)
ORPHA:329903 — Immunoglobulin-mediated membranoproliferative glomerulonephritis (OMIM: OMIM:615008)
ORPHA:329918 — C3 glomerulopathy (OMIM: OMIM:609814, OMIM:614809)
ORPHA:329931 — C3 glomerulonephritis (OMIM: OMIM:614809)
ORPHA:329971 — Generalized juvenile polyposis/juvenile polyposis coli (OMIM: OMIM:174900, OMIM:175050)
ORPHA:33 — Isovaleric acidemia (OMIM: OMIM:243500)
ORPHA:330 — Congenital factor XII deficiency (OMIM: OMIM:234000)
ORPHA:33001 — Lymphedema-distichiasis syndrome (OMIM: OMIM:153400)
ORPHA:330041 — Hemoglobin M disease (OMIM: OMIM:617971, OMIM:617973)
ORPHA:330050 — DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (OMIM: OMIM:614388)
ORPHA:330054 — Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome (OMIM: OMIM:613076)
ORPHA:330061 — Actinic prurigo (OMIM: OMIM:174770)
ORPHA:3301 — Tetraamelia-multiple malformations syndrome (OMIM: OMIM:273395, OMIM:601360, OMIM:618021)
ORPHA:3303 — Tetralogy of Fallot (OMIM: OMIM:618780, OMIM:187500)
ORPHA:3304 — Fallot complex-intellectual disability-growth delay syndrome (OMIM: OMIM:601127)
ORPHA:33067 — Metaphyseal chondrodysplasia, Jansen type (OMIM: OMIM:156400)
ORPHA:33069 — Dravet syndrome (OMIM: OMIM:607208, OMIM:612164, OMIM:615744)
ORPHA:3307 — Tetrasomy 18p syndrome (OMIM: OMIM:614290)
ORPHA:331 — Congenital factor XIII deficiency (OMIM: OMIM:613225, OMIM:613235)
ORPHA:33108 — Lethal multiple pterygium syndrome (OMIM: OMIM:253290)
ORPHA:33110 — Autosomal agammaglobulinemia (OMIM: OMIM:619693, OMIM:619707, OMIM:619824, OMIM:616941, OMIM:613506, OMIM:615214, OMIM:601495, OMIM:612692, OMIM:613500, OMIM:613501, OMIM:613502)
ORPHA:331176 — Severe congenital neutropenia due to G6PC3 deficiency (OMIM: OMIM:612541)
ORPHA:331187 — Immunodeficiency due to MASP-2 deficiency (OMIM: OMIM:613791)
ORPHA:331190 — Immunodeficiency due to ficolin3 deficiency (OMIM: OMIM:613860)
ORPHA:331206 — Severe combined immunodeficiency due to complete RAG1/2 deficiency (OMIM: OMIM:601457)
ORPHA:331226 — Susceptibility to infection due to TYK2 deficiency (OMIM: OMIM:611521)
ORPHA:3314 — Thiemann disease, familial form (OMIM: OMIM:165700)
ORPHA:3317 — Thoracolaryngopelvic dysplasia (OMIM: OMIM:187760, OMIM:187770)
ORPHA:3318 — Essential thrombocythemia (OMIM: OMIM:187950, OMIM:601977, OMIM:614521)
ORPHA:3319 — Congenital amegakaryocytic thrombocytopenia (OMIM: OMIM:604498)
ORPHA:332 — Congenital intrinsic factor deficiency (OMIM: OMIM:243320, OMIM:261000)
ORPHA:3320 — Thrombocytopenia-absent radius syndrome (OMIM: OMIM:274000)
ORPHA:3322 — Hoyeraal-Hreidarsson syndrome (OMIM: OMIM:305000, OMIM:613989, OMIM:613990, OMIM:615190, OMIM:616353, OMIM:616553)
ORPHA:33226 — Waldenström macroglobulinemia (OMIM: OMIM:153600, OMIM:610430)
ORPHA:3326 — Thymic-renal-anal-lung dysplasia (OMIM: OMIM:274265)
ORPHA:3327 — Thyrocerebrorenal syndrome (OMIM: OMIM:274240)
ORPHA:33276 — Kaposi sarcoma (OMIM: OMIM:148000)
ORPHA:3328 — Absent tibia-polydactyly-arachnoid cyst syndrome (OMIM: OMIM:601027)
ORPHA:3329 — Tibial aplasia-ectrodactyly syndrome (OMIM: OMIM:119100, OMIM:610685, OMIM:612576)
ORPHA:333 — Farber disease (OMIM: OMIM:228000)
ORPHA:33355 — Reticular dysgenesis (OMIM: OMIM:267500)
ORPHA:33364 — Trichothiodystrophy (OMIM: OMIM:619691, OMIM:619692, OMIM:616943, OMIM:618546, OMIM:234050, OMIM:300953, OMIM:601675, OMIM:616390, OMIM:616395)
ORPHA:3337 — Primary Fanconi renotubular syndrome (OMIM: OMIM:134600, OMIM:613388, OMIM:615605, OMIM:618913)
ORPHA:3338 — Toriello-Carey syndrome (OMIM: OMIM:217980)
ORPHA:3339 — Oculoectodermal syndrome (OMIM: OMIM:600268)
ORPHA:334 — Familial atrial fibrillation (OMIM: OMIM:607554, OMIM:608583, OMIM:608988, OMIM:611493, OMIM:611494, OMIM:611819, OMIM:612201, OMIM:612240, OMIM:613055, OMIM:613120, OMIM:613980, OMIM:614022, OMIM:614049, OMIM:614050, OMIM:615377, OMIM:615378, OMIM:615770, OMIM:617280)
ORPHA:33402 — Pediatric hepatocellular carcinoma (OMIM: OMIM:114550)
ORPHA:3341 — Torticollis-keloids-cryptorchidism-renal dysplasia syndrome (OMIM: OMIM:314300)
ORPHA:3342 — Arterial tortuosity syndrome (OMIM: OMIM:208050)
ORPHA:3344 — Weismann-Netter syndrome (OMIM: OMIM:112350)
ORPHA:33445 — Neuroectodermal melanolysosomal disease (OMIM: OMIM:256710)
ORPHA:3347 — Mounier-Kühn syndrome (OMIM: OMIM:275300)
ORPHA:3348 — Tracheobronchopathia osteochondroplastica (OMIM: OMIM:189961)
ORPHA:335 — Congenital fibrinogen deficiency (OMIM: OMIM:202400, OMIM:616004)
ORPHA:3350 — Tremor-nystagmus-duodenal ulcer syndrome (OMIM: OMIM:190310)
ORPHA:3351 — Trichodental syndrome (OMIM: OMIM:601453)
ORPHA:3352 — Tricho-dento-osseous syndrome (OMIM: OMIM:190320)
ORPHA:33543 — Kleine-Levin syndrome (OMIM: OMIM:148840)
ORPHA:3355 — Trichoodontoonychial dysplasia (OMIM: OMIM:275450)
ORPHA:33572 — 5-oxoprolinase deficiency (OMIM: OMIM:260005)
ORPHA:33573 — Gamma-glutamyl transpeptidase deficiency (OMIM: OMIM:231950)
ORPHA:33574 — Glutamate-cysteine ligase deficiency (OMIM: OMIM:230450)
ORPHA:3361 — Trichodysplasia-xeroderma syndrome (OMIM: OMIM:190360)
ORPHA:3363 — Trichomegaly-retina pigmentary degeneration-dwarfism syndrome (OMIM: OMIM:275400)
ORPHA:3366 — Non-syndromic metopic craniosynostosis (OMIM: OMIM:190440, OMIM:614485)
ORPHA:3368 — Trigonocephaly-bifid nose-acral anomalies syndrome (OMIM: OMIM:275595)
ORPHA:3369 — Trigonocephaly-short stature-developmental delay syndrome (OMIM: OMIM:314320)
ORPHA:337 — Fibrodysplasia ossificans progressiva (OMIM: OMIM:135100)
ORPHA:3377 — Trismus-pseudocamptodactyly syndrome (OMIM: OMIM:158300)
ORPHA:3383 — Humerus trochlea aplasia (OMIM: OMIM:191000)
ORPHA:3384 — Common arterial trunk (OMIM: OMIM:217095)
ORPHA:3387 — Isolated anterior cervical hypertrichosis (OMIM: OMIM:600457)
ORPHA:3389 — Tuberculosis (OMIM: OMIM:607948)
ORPHA:3403 — Uhl anomaly (OMIM: OMIM:107970)
ORPHA:3404 — Ulbright-Hodes syndrome (OMIM: OMIM:266910)
ORPHA:3406 — Ulerythema ophryogenesis (OMIM: OMIM:604093)
ORPHA:3408 — Upington disease (OMIM: OMIM:191520)
ORPHA:3409 — Urban-Rogers-Meyer syndrome (OMIM: OMIM:264010)
ORPHA:3411 — Double uterus-hemivagina-renal agenesis syndrome (OMIM: OMIM:192050)
ORPHA:3412 — VACTERL with hydrocephalus (OMIM: OMIM:276950, OMIM:314390)
ORPHA:34149 — Autosomal dominant tubulointerstitial kidney disease (OMIM: OMIM:162000, OMIM:137920, OMIM:174000)
ORPHA:3416 — Hyperostosis corticalis generalisata (OMIM: OMIM:239100, OMIM:144750)
ORPHA:3417 — Van den Bosch syndrome (OMIM: OMIM:314500)
ORPHA:342 — Familial Mediterranean fever (OMIM: OMIM:134610, OMIM:249100)
ORPHA:34217 — Naxos disease (OMIM: OMIM:601214)
ORPHA:3424 — Velo-facial-skeletal syndrome (OMIM: OMIM:600736)
ORPHA:3426 — Double outlet right ventricle (OMIM: OMIM:217095)
ORPHA:3429 — Verloove Vanhorick-Brubakk syndrome (OMIM: OMIM:215850)
ORPHA:343 — Hyperimmunoglobulinemia D with periodic fever (OMIM: OMIM:260920)
ORPHA:3434 — MMEP syndrome (OMIM: OMIM:601349)
ORPHA:3439 — Von Voss-Cherstvoy syndrome (OMIM: OMIM:223340)
ORPHA:3440 — Waardenburg syndrome (OMIM: OMIM:148820, OMIM:193500, OMIM:193510, OMIM:600193, OMIM:606662, OMIM:611584)
ORPHA:3447 — Weaver syndrome (OMIM: OMIM:277590)
ORPHA:3449 — Weill-Marchesani syndrome (OMIM: OMIM:277600, OMIM:608328, OMIM:614819, OMIM:613195)
ORPHA:345 — Dissecting cellulitis of the scalp (OMIM: OMIM:260910)
ORPHA:3451 — Infantile epileptic spasms syndrome (OMIM: OMIM:618298, OMIM:300672, OMIM:308350, OMIM:613477, OMIM:613722, OMIM:615006, OMIM:616139, OMIM:616341, OMIM:617929, OMIM:617065)
ORPHA:34514 — Telethonin-related limb-girdle muscular dystrophy R7 (OMIM: OMIM:601954)
ORPHA:34515 — FKRP-related limb-girdle muscular dystrophy R9 (OMIM: OMIM:607155)
ORPHA:34516 — DNAJB6-related limb-girdle muscular dystrophy D1 (OMIM: OMIM:603511)
ORPHA:34520 — Congenital muscular dystrophy with integrin alpha-7 deficiency (OMIM: OMIM:613204)
ORPHA:34528 — Autosomal dominant primary hypomagnesemia with hypocalciuria (OMIM: OMIM:154020)
ORPHA:3453 — Autoimmune polyendocrinopathy type 1 (OMIM: OMIM:240300)
ORPHA:3454 — Wieacker-Wolff syndrome (OMIM: OMIM:314580)
ORPHA:3455 — Wiedemann-Rautenstrauch syndrome (OMIM: OMIM:264090)
ORPHA:3456 — Wildervanck syndrome (OMIM: OMIM:314600)
ORPHA:34587 — Danon disease (OMIM: OMIM:300257)
ORPHA:3459 — Wilson-Turner syndrome (OMIM: OMIM:309585)
ORPHA:34592 — Immunodeficiency by defective expression of MHC class I (OMIM: OMIM:604571, OMIM:241600)
ORPHA:3463 — Wolfram syndrome (OMIM: OMIM:222300, OMIM:598500, OMIM:604928)
ORPHA:3464 — Woodhouse-Sakati syndrome (OMIM: OMIM:241080)
ORPHA:3465 — Worster-Drought syndrome (OMIM: OMIM:185480)
ORPHA:3466 — WT limb-blood syndrome (OMIM: OMIM:194350)
ORPHA:3467 — Hereditary xanthinuria (OMIM: OMIM:278300, OMIM:603592)
ORPHA:3469 — XK aprosencephaly syndrome (OMIM: OMIM:207770)
ORPHA:347 — Frasier syndrome (OMIM: OMIM:136680)
ORPHA:3471 — Young syndrome (OMIM: OMIM:279000)
ORPHA:3472 — Yunis-Varon syndrome (OMIM: OMIM:216340)
ORPHA:3473 — Zimmermann-Laband syndrome (OMIM: OMIM:135500, OMIM:616455, OMIM:618658, OMIM:618729)
ORPHA:3474 — CHIME syndrome (OMIM: OMIM:280000)
ORPHA:348 — Fructose-1,6-bisphosphatase deficiency (OMIM: OMIM:229700)
ORPHA:349 — Fucosidosis (OMIM: OMIM:230000)
ORPHA:35 — Propionic acidemia (OMIM: OMIM:606054)
ORPHA:35069 — Infantile neuroaxonal dystrophy (OMIM: OMIM:256600, OMIM:610217)
ORPHA:35078 — T-B+ severe combined immunodeficiency due to JAK3 deficiency (OMIM: OMIM:600802)
ORPHA:35093 — Non-syndromic sagittal craniosynostosis (OMIM: OMIM:600775, OMIM:615529, OMIM:123100)
ORPHA:35099 — Non-syndromic bicoronal craniosynostosis (OMIM: OMIM:123100, OMIM:615314, OMIM:616602)
ORPHA:351 — Galactosialidosis (OMIM: OMIM:256540)
ORPHA:35107 — Desmosterolosis (OMIM: OMIM:602398)
ORPHA:35120 — Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency (OMIM: OMIM:266120)
ORPHA:35121 — Lysosomal acid phosphatase deficiency (OMIM: OMIM:200950)
ORPHA:35122 — Congenital sucrase-isomaltase deficiency (OMIM: OMIM:222900)
ORPHA:35173 — X-linked dominant chondrodysplasia punctata (OMIM: OMIM:302960)
ORPHA:352 — Galactosemia (OMIM: OMIM:230200, OMIM:230350, OMIM:230400)
ORPHA:352328 — MEGDEL syndrome (OMIM: OMIM:614739)
ORPHA:352333 — Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome (OMIM: OMIM:614457)