TaoMedAI/RareMedData huggingface dataset:
ORPHA:912 — Zellweger syndrome (OMIM: OMIM:214100, OMIM:214110, OMIM:614859, OMIM:614862, OMIM:614866, OMIM:614870, OMIM:614872, OMIM:617370, OMIM:614876, OMIM:614882, OMIM:614883, OMIM:614886, OMIM:614887)
ORPHA:91378 — Hereditary angioedema (OMIM: OMIM:619366, OMIM:619360, OMIM:619361, OMIM:619363, OMIM:106100, OMIM:610618)
ORPHA:91385 — Acquired angioedema (OMIM: OMIM:300909)
ORPHA:91387 — Familial thoracic aortic aneurysm and aortic dissection (OMIM: OMIM:619656, OMIM:619825, OMIM:617168, OMIM:132900, OMIM:607086, OMIM:607087, OMIM:611788, OMIM:609192, OMIM:610168, OMIM:613780, OMIM:614816, OMIM:615436, OMIM:615582, OMIM:616166)
ORPHA:91396 — Isolated cryptophthalmia (OMIM: OMIM:123570)
ORPHA:91411 — Congenital ptosis (OMIM: OMIM:178300, OMIM:300245, OMIM:616219)
ORPHA:91412 — Marcus-Gunn syndrome (OMIM: OMIM:154600)
ORPHA:91413 — Congenital Horner syndrome (OMIM: OMIM:143000)
ORPHA:91414 — Pilomatrixoma (OMIM: OMIM:132600)
ORPHA:91416 — Isolated congenital alacrima (OMIM: OMIM:103420, OMIM:601549)
ORPHA:91481 — Ring dermoid of cornea (OMIM: OMIM:180550)
ORPHA:91483 — Rieger anomaly (OMIM: OMIM:137600, OMIM:601631, OMIM:602482)
ORPHA:91489 — Isolated congenital megalocornea (OMIM: OMIM:309300)
ORPHA:91490 — Isolated congenital sclerocornea (OMIM: OMIM:181700)
ORPHA:91492 — Early onset non-syndromic cataract (OMIM: OMIM:616851, OMIM:604219, OMIM:604307, OMIM:605387, OMIM:605728, OMIM:605749, OMIM:607304, OMIM:609376, OMIM:609741, OMIM:610019, OMIM:610202, OMIM:610425, OMIM:610623, OMIM:611391, OMIM:611544, OMIM:611597, OMIM:613763, OMIM:614422, OMIM:614691, OMIM:615188, OMIM:615274, OMIM:615277, OMIM:616279, OMIM:616509, OMIM:115650, OMIM:115660, OMIM:115665, OMIM:115700, OMIM:115800, OMIM:115900, OMIM:116100, OMIM:116200, OMIM:116300, OMIM:116400, OMIM:116600, OMIM:116700, OMIM:116800, OMIM:212500, OMIM:302200, OMIM:600881, OMIM:601202, OMIM:601547, OMIM:601885)
ORPHA:91494 — Macular coloboma-cleft palate-hallux valgus syndrome (OMIM: OMIM:216800)
ORPHA:91495 — Persistent hyperplastic primary vitreous (OMIM: OMIM:221900, OMIM:611308)
ORPHA:91496 — Snowflake vitreoretinal degeneration (OMIM: OMIM:193230)
ORPHA:91498 — Familial congenital palsy of trochlear nerve (OMIM: OMIM:136480)
ORPHA:915 — Aarskog-Scott syndrome (OMIM: OMIM:100050, OMIM:305400)
ORPHA:91500 — Tubulointerstitial nephritis and uveitis syndrome (OMIM: OMIM:607665)
ORPHA:916 — Aase-Smith syndrome (OMIM: OMIM:147800)
ORPHA:920 — Ablepharon macrostomia syndrome (OMIM: OMIM:200110)
ORPHA:92050 — Congenital tufting enteropathy (OMIM: OMIM:613217)
ORPHA:921 — Abruzzo-Erickson syndrome (OMIM: OMIM:302905)
ORPHA:926 — Acatalasemia (OMIM: OMIM:614097)
ORPHA:927 — Hyperammonemia due to N-acetylglutamate synthase deficiency (OMIM: OMIM:237310)
ORPHA:929 — Achalasia-microcephaly syndrome (OMIM: OMIM:200450)
ORPHA:93 — Aspartylglucosaminuria (OMIM: OMIM:208400)
ORPHA:930 — Idiopathic achalasia (OMIM: OMIM:200400)
ORPHA:931 — Isolated acheiropodia (OMIM: OMIM:200500)
ORPHA:93100 — Renal agenesis, unilateral (OMIM: OMIM:617805)
ORPHA:93110 — Posterior urethral valve (OMIM: OMIM:618612)
ORPHA:93111 — HNF1B-related autosomal dominant tubulointerstitial kidney disease (OMIM: OMIM:137920)
ORPHA:93114 — Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (OMIM: OMIM:614455)
ORPHA:93160 — Hypocalcemic vitamin D-resistant rickets (OMIM: OMIM:619073, OMIM:600785, OMIM:277440)
ORPHA:932 — Achondrogenesis (OMIM: OMIM:200600, OMIM:200610, OMIM:600972)
ORPHA:93256 — Fragile X-associated tremor/ataxia syndrome (OMIM: OMIM:300623)
ORPHA:93258 — Pfeiffer syndrome type 1 (OMIM: OMIM:101600)
ORPHA:93259 — Pfeiffer syndrome type 2 (OMIM: OMIM:101600)
ORPHA:93260 — Pfeiffer syndrome type 3 (OMIM: OMIM:101600)
ORPHA:93262 — Crouzon syndrome-acanthosis nigricans syndrome (OMIM: OMIM:612247)
ORPHA:93267 — Cloverleaf skull-multiple congenital anomalies syndrome (OMIM: OMIM:607161)
ORPHA:93268 — Short rib-polydactyly syndrome, Beemer-Langer type (OMIM: OMIM:269860)
ORPHA:93269 — Short rib-polydactyly syndrome, Majewski type (OMIM: OMIM:263520, OMIM:613091)
ORPHA:93270 — Short rib-polydactyly syndrome, Saldino-Noonan type (OMIM: OMIM:613091)
ORPHA:93271 — Short rib-polydactyly syndrome, Verma-Naumoff type (OMIM: OMIM:614091, OMIM:613091, OMIM:615503, OMIM:615633)
ORPHA:93274 — Thanatophoric dysplasia type 2 (OMIM: OMIM:156830, OMIM:187601)
ORPHA:93279 — Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis (OMIM: OMIM:604864)
ORPHA:93282 — Spondyloepimetaphyseal dysplasia, PAPSS2 type (OMIM: OMIM:612847)
ORPHA:93283 — Spondyloepiphyseal dysplasia, Kimberley type (OMIM: OMIM:608361)
ORPHA:93284 — Spondyloepiphyseal dysplasia tarda (OMIM: OMIM:184100, OMIM:271600, OMIM:313400)
ORPHA:93293 — Okihiro syndrome (OMIM: OMIM:607323)
ORPHA:93296 — Achondrogenesis type 2 (OMIM: OMIM:200610)
ORPHA:93297 — Hypochondrogenesis (OMIM: OMIM:200610)
ORPHA:93298 — Achondrogenesis type 1B (OMIM: OMIM:600972)
ORPHA:93299 — Achondrogenesis type 1A (OMIM: OMIM:200600)
ORPHA:93302 — Brachyolmia, Maroteaux type (OMIM: OMIM:613678)
ORPHA:93304 — Autosomal dominant brachyolmia (OMIM: OMIM:113500)
ORPHA:93307 — Multiple epiphyseal dysplasia type 4 (OMIM: OMIM:226900)
ORPHA:93308 — Multiple epiphyseal dysplasia type 1 (OMIM: OMIM:132400)
ORPHA:93311 — Multiple epiphyseal dysplasia type 5 (OMIM: OMIM:607078)
ORPHA:93314 — Spondylometaphyseal dysplasia, Kozlowski type (OMIM: OMIM:184252)
ORPHA:93315 — Spondylometaphyseal dysplasia, 'corner fracture' type (OMIM: OMIM:184255)
ORPHA:93316 — Spondylometaphyseal dysplasia, Schmidt type (OMIM: OMIM:184253)
ORPHA:93317 — Spondylometaphyseal dysplasia, Sedaghatian type (OMIM: OMIM:250220)
ORPHA:93322 — Isolated tibial hemimelia (OMIM: OMIM:275220)
ORPHA:93324 — Autosomal recessive Kenny-Caffey syndrome (OMIM: OMIM:244460)
ORPHA:93325 — Autosomal dominant Kenny-Caffey syndrome (OMIM: OMIM:127000)
ORPHA:93328 — Autosomal dominant omodysplasia (OMIM: OMIM:164745)
ORPHA:93329 — Autosomal recessive omodysplasia (OMIM: OMIM:258315)
ORPHA:93333 — Pelviscapular dysplasia (OMIM: OMIM:260660)
ORPHA:93334 — Postaxial polydactyly type A (OMIM: OMIM:617642, OMIM:618498, OMIM:618219, OMIM:174200, OMIM:263450, OMIM:602085, OMIM:607324, OMIM:608562, OMIM:615226)
ORPHA:93335 — Postaxial polydactyly type B (OMIM: OMIM:174200)
ORPHA:93336 — Polydactyly of a triphalangeal thumb (OMIM: OMIM:174500)
ORPHA:93337 — Polydactyly of an index finger (OMIM: OMIM:174600)
ORPHA:93338 — Polysyndactyly (OMIM: OMIM:174700)
ORPHA:93339 — Polydactyly of a biphalangeal thumb and/or hallux (OMIM: OMIM:174400)
ORPHA:93346 — Spondyloepimetaphyseal dysplasia congenita, Strudwick type (OMIM: OMIM:184250)
ORPHA:93347 — Anauxetic dysplasia (OMIM: OMIM:618853, OMIM:607095, OMIM:617396)
ORPHA:93349 — X-linked spondyloepimetaphyseal dysplasia (OMIM: OMIM:300106)
ORPHA:93351 — Spondyloepimetaphyseal dysplasia, Irapa type (OMIM: OMIM:271650)
ORPHA:93352 — Spondyloepimetaphyseal dysplasia, Shohat type (OMIM: OMIM:602557)
ORPHA:93356 — Spondyloepimetaphyseal dysplasia, Missouri type (OMIM: OMIM:602111)
ORPHA:93357 — SPONASTRIME dysplasia (OMIM: OMIM:271510)
ORPHA:93358 — Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome (OMIM: OMIM:271665)
ORPHA:93360 — Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (OMIM: OMIM:603546)
ORPHA:93372 — Familial hypocalciuric hypercalcemia type 1 (OMIM: OMIM:145980)
ORPHA:93382 — Brachydactyly type A6 (OMIM: OMIM:112910)
ORPHA:93383 — Brachydactyly type B (OMIM: OMIM:611377, OMIM:113000)
ORPHA:93384 — Brachydactyly type C (OMIM: OMIM:113100)
ORPHA:93387 — Brachydactyly type E (OMIM: OMIM:113300, OMIM:613382)
ORPHA:93388 — Brachydactyly type A1 (OMIM: OMIM:112500, OMIM:607004, OMIM:615072, OMIM:616849)
ORPHA:93394 — Brachydactyly type A4 (OMIM: OMIM:112800)
ORPHA:93396 — Brachydactyly type A2 (OMIM: OMIM:112600)
ORPHA:93398 — Genochondromatosis type 2 (OMIM: OMIM:137360)
ORPHA:93399 — Juvenile sialidosis type 2 (OMIM: OMIM:256550)
ORPHA:93400 — Congenital sialidosis type 2 (OMIM: OMIM:256550)
ORPHA:93402 — Syndactyly type 1 (OMIM: OMIM:185900)
ORPHA:93403 — Syndactyly type 2 (OMIM: OMIM:608180, OMIM:610234)
ORPHA:93404 — Syndactyly type 3 (OMIM: OMIM:186100)
ORPHA:93405 — Syndactyly type 4 (OMIM: OMIM:186200)
ORPHA:93406 — Syndactyly type 5 (OMIM: OMIM:186300)
ORPHA:93409 — Brachydactyly-syndactyly, Zhao type (OMIM: OMIM:610713)
ORPHA:93426 — Ciliopathies with major skeletal involvement (OMIM: OMIM:617405)
ORPHA:93439 — Campomelic dysplasia and related disorders (OMIM: OMIM:620076, OMIM:614592)
ORPHA:93473 — Hurler syndrome (OMIM: OMIM:607014)
ORPHA:93474 — Scheie syndrome (OMIM: OMIM:607016)
ORPHA:93476 — Hurler-Scheie syndrome (OMIM: OMIM:607015)
ORPHA:935 — Short-limb skeletal dysplasia with severe combined immunodeficiency (OMIM: OMIM:200900)
ORPHA:93560 — AApoAI amyloidosis (OMIM: OMIM:105200)
ORPHA:93561 — ALys amyloidosis (OMIM: OMIM:105200)
ORPHA:93562 — AFib amyloidosis (OMIM: OMIM:105200)
ORPHA:93571 — Dense deposit disease (OMIM: OMIM:609814)
ORPHA:93581 — Atypical hemolytic uremic syndrome with anti-factor H antibodies (OMIM: OMIM:235400)
ORPHA:93583 — Congenital thrombotic thrombocytopenic purpura (OMIM: OMIM:274150)
ORPHA:93589 — Late-onset nephronophthisis (OMIM: OMIM:617271, OMIM:604387, OMIM:613159)
ORPHA:93591 — Infantile nephronophthisis (OMIM: OMIM:615382, OMIM:602088)
ORPHA:93592 — Juvenile nephronophthisis (OMIM: OMIM:615382, OMIM:256100)
ORPHA:93598 — Primary hyperoxaluria type 1 (OMIM: OMIM:259900)
ORPHA:93599 — Primary hyperoxaluria type 2 (OMIM: OMIM:260000)
ORPHA:93600 — Primary hyperoxaluria type 3 (OMIM: OMIM:613616)
ORPHA:93601 — Xanthinuria type I (OMIM: OMIM:278300)
ORPHA:93602 — Xanthinuria type II (OMIM: OMIM:603592)
ORPHA:93605 — Bartter syndrome type 3 (OMIM: OMIM:607364)
ORPHA:93606 — Nephrogenic syndrome of inappropriate antidiuresis (OMIM: OMIM:300539)
ORPHA:93607 — Autosomal recessive proximal renal tubular acidosis (OMIM: OMIM:604278)
ORPHA:93608 — Autosomal dominant distal renal tubular acidosis (OMIM: OMIM:179800)
ORPHA:93610 — Distal renal tubular acidosis with anemia (OMIM: OMIM:611590)
ORPHA:93612 — Cystinuria type A (OMIM: OMIM:220100)
ORPHA:93613 — Cystinuria type B (OMIM: OMIM:220100)
ORPHA:93616 — Hemoglobin H disease (OMIM: OMIM:613978)
ORPHA:93622 — Dent disease type 1 (OMIM: OMIM:300009, OMIM:300554, OMIM:308990, OMIM:310468)
ORPHA:93623 — Dent disease type 2 (OMIM: OMIM:300555)
ORPHA:939 — 3-hydroxyisobutyric aciduria (OMIM: OMIM:236795)
ORPHA:93921 — Full schwannomatosis (OMIM: OMIM:162091, OMIM:162260, OMIM:615670)
ORPHA:93924 — Lobar holoprosencephaly (OMIM: OMIM:157170, OMIM:610829, OMIM:609637)
ORPHA:93925 — Alobar holoprosencephaly (OMIM: OMIM:157170, OMIM:610829, OMIM:609637, OMIM:301043)
ORPHA:93926 — Midline interhemispheric variant of holoprosencephaly (OMIM: OMIM:157170, OMIM:610829, OMIM:609637)
ORPHA:93929 — Cloacal exstrophy (OMIM: OMIM:258040)
ORPHA:93930 — Bladder exstrophy (OMIM: OMIM:600057)
ORPHA:93932 — FG syndrome type 1 (OMIM: OMIM:305450)
ORPHA:93940 — Laryngotracheoesophageal cleft type 3 (OMIM: OMIM:215800)
ORPHA:93945 — X-linked intellectual disability, Porteous type (OMIM: OMIM:309500)
ORPHA:93946 — Hamel cerebro-palato-cardiac syndrome (OMIM: OMIM:309500)
ORPHA:93947 — X-linked intellectual disability, Golabi-Ito-Hall type (OMIM: OMIM:309500)
ORPHA:93950 — X-linked intellectual disability, Sutherland-Haan type (OMIM: OMIM:309500)
ORPHA:93952 — X-linked intellectual disability, Hedera type (OMIM: OMIM:300423)
ORPHA:93953 — Familial thyroglossal duct cyst (OMIM: OMIM:188455)
ORPHA:93976 — Anotia (OMIM: OMIM:600674)
ORPHA:94 — Astrocytoma (OMIM: OMIM:137800)
ORPHA:94063 — 12q14 microdeletion syndrome (OMIM: OMIM:166700)
ORPHA:94064 — Deafness-infertility syndrome (OMIM: OMIM:611102)
ORPHA:94065 — 15q24 microdeletion syndrome (OMIM: OMIM:613406)
ORPHA:94068 — Spondyloepiphyseal dysplasia congenita (OMIM: OMIM:183900)
ORPHA:94083 — Partington syndrome (OMIM: OMIM:309510)
ORPHA:94086 — Blue diaper syndrome (OMIM: OMIM:211000)
ORPHA:94088 — Hereditary renal hypouricemia (OMIM: OMIM:220150, OMIM:242050, OMIM:307830, OMIM:612076)
ORPHA:94089 — Pseudohypoparathyroidism type 1B (OMIM: OMIM:603233)
ORPHA:94090 — Pseudohypoparathyroidism type 2 (OMIM: OMIM:203330)
ORPHA:941 — D-glyceric aciduria (OMIM: OMIM:220120)
ORPHA:94122 — Cerebellar ataxia, Cayman type (OMIM: OMIM:601238)
ORPHA:94124 — Spinocerebellar ataxia with axonal neuropathy type 1 (OMIM: OMIM:607250)
ORPHA:94147 — Spinocerebellar ataxia type 7 (OMIM: OMIM:164500)
ORPHA:94150 — Anonychia congenita totalis (OMIM: OMIM:206800)
ORPHA:943 — Malonic aciduria (OMIM: OMIM:248360)
ORPHA:949 — Acrocraniofacial dysostosis (OMIM: OMIM:201050)
ORPHA:95 — Friedreich ataxia (OMIM: OMIM:229300, OMIM:601992)
ORPHA:950 — Acrodysostosis (OMIM: OMIM:101800, OMIM:614613)
ORPHA:95159 — Hepatoerythropoietic porphyria (OMIM: OMIM:176100)
ORPHA:952 — Acrofacial dysostosis, Weyers type (OMIM: OMIM:193530)
ORPHA:95232 — Lissencephaly due to LIS1 mutation (OMIM: OMIM:607432)
ORPHA:95428 — COG8-CDG (OMIM: OMIM:611182)
ORPHA:95429 — Angioma serpiginosum (OMIM: OMIM:106050, OMIM:300652)
ORPHA:95433 — Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (OMIM: OMIM:271250)
ORPHA:95434 — Autosomal recessive cerebellar ataxia-movement disorder syndrome (OMIM: OMIM:607317)
ORPHA:95455 — Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum (OMIM: OMIM:608579)
ORPHA:95494 — Combined pituitary hormone deficiencies, genetic forms (OMIM: OMIM:182230, OMIM:262600, OMIM:613986)
ORPHA:955 — Hajdu-Cheney syndrome (OMIM: OMIM:102400, OMIM:102500)
ORPHA:95699 — Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (OMIM: OMIM:613571)
ORPHA:957 — Acropectorovertebral dysplasia (OMIM: OMIM:102510)
ORPHA:95700 — Familial adrenal hypoplasia with absent pituitary luteinizing hormone (OMIM: OMIM:202150)
ORPHA:95702 — X-linked adrenal hypoplasia congenita (OMIM: OMIM:202155, OMIM:300200)
ORPHA:95706 — Non-syndromic posterior hypospadias (OMIM: OMIM:300633, OMIM:300758, OMIM:300856, OMIM:146450)
ORPHA:95712 — Thyroid ectopia (OMIM: OMIM:218700, OMIM:225250)
ORPHA:95713 — Athyreosis (OMIM: OMIM:218700, OMIM:225250)
ORPHA:95716 — Familial thyroid dyshormonogenesis (OMIM: OMIM:274400, OMIM:274500, OMIM:274700, OMIM:274800, OMIM:274900, OMIM:607200)
ORPHA:95719 — Thyroid hemiagenesis (OMIM: OMIM:218700)
ORPHA:95720 — Thyroid hypoplasia (OMIM: OMIM:218700, OMIM:225250)
ORPHA:958 — Acro-renal-mandibular syndrome (OMIM: OMIM:200980)
ORPHA:959 — Acro-renal-ocular syndrome (OMIM: OMIM:607323)
ORPHA:96 — Ataxia with vitamin E deficiency (OMIM: OMIM:277460)
ORPHA:96078 — 16p13.3 microduplication syndrome (OMIM: OMIM:613458)
ORPHA:96121 — 7q11.23 microduplication syndrome (OMIM: OMIM:609757)
ORPHA:96125 — Distal deletion 6p syndrome (OMIM: OMIM:612582)
ORPHA:96147 — Kleefstra syndrome due to 9q34 microdeletion (OMIM: OMIM:610253)
ORPHA:96148 — Distal deletion 10q syndrome (OMIM: OMIM:609625)
ORPHA:96167 — Recombinant 8 syndrome (OMIM: OMIM:179613)
ORPHA:96168 — Monosomy 13q34 syndrome (OMIM: OMIM:619148)
ORPHA:96169 — Koolen-De Vries syndrome (OMIM: OMIM:610443)
ORPHA:96170 — Emanuel syndrome (OMIM: OMIM:609029)
ORPHA:96184 — Temple syndrome due to maternal uniparental disomy of chromosome 14 (OMIM: OMIM:616222)
ORPHA:96186 — Maternal uniparental disomy of chromosome 20 syndrome (OMIM: OMIM:617352)
ORPHA:96253 — Cushing disease (OMIM: OMIM:219090)
ORPHA:96256 — Somatotropic adenoma (OMIM: OMIM:102200)
ORPHA:96265 — Leydig cell hypoplasia due to complete LH resistance (OMIM: OMIM:238320)
ORPHA:96266 — Leydig cell hypoplasia due to partial LH resistance (OMIM: OMIM:238320)
ORPHA:963 — Acromegaly (OMIM: OMIM:102200, OMIM:300943)
ORPHA:96334 — Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (OMIM: OMIM:608149)
ORPHA:968 — Acromesomelic dysplasia, Hunter-Thompson type (OMIM: OMIM:201250)
ORPHA:969 — Acromicric dysplasia (OMIM: OMIM:102370)
ORPHA:97 — Familial paroxysmal ataxia (OMIM: OMIM:108500)
ORPHA:970 — Hereditary sensory and autonomic neuropathy type 2 (OMIM: OMIM:201300, OMIM:243000, OMIM:613115, OMIM:614213)
ORPHA:971 — Acrorenal syndrome (OMIM: OMIM:102520, OMIM:201310)
ORPHA:97120 — Distal arthrogryposis (OMIM: OMIM:620019, OMIM:108120, OMIM:618436, OMIM:618435, OMIM:615065, OMIM:619110, OMIM:108145)
ORPHA:972 — Hereditary continuous muscle fiber activity (OMIM: OMIM:160120)
ORPHA:97229 — Riboflavin transporter deficiency (OMIM: OMIM:211500, OMIM:211530, OMIM:614707)
ORPHA:97232 — Fingerprint body myopathy (OMIM: OMIM:305550)
ORPHA:97234 — Glycogen storage disease due to phosphoglycerate mutase deficiency (OMIM: OMIM:261670)
ORPHA:97238 — Rippling muscle disease (OMIM: OMIM:600332, OMIM:606072)
ORPHA:97239 — Reducing body myopathy (OMIM: OMIM:300717, OMIM:300718)
ORPHA:97244 — Rigid spine syndrome (OMIM: OMIM:602771)
ORPHA:97249 — Pontocerebellar hypoplasia type 3 (OMIM: OMIM:608027)
ORPHA:97286 — Carney-Stratakis syndrome (OMIM: OMIM:606864)
ORPHA:97290 — Familial papillary thyroid carcinoma with renal papillary neoplasia (OMIM: OMIM:605642)
ORPHA:97297 — Bohring-Opitz syndrome (OMIM: OMIM:605039)
ORPHA:973 — Isolated absence/hypoplasia of fingers excluding thumb, unilateral (OMIM: OMIM:102650)
ORPHA:97340 — Hunter-McAlpine syndrome (OMIM: OMIM:601379)
ORPHA:97345 — ABri amyloidosis (OMIM: OMIM:176500)
ORPHA:97346 — ADan amyloidosis (OMIM: OMIM:117300)
ORPHA:97360 — Robinow syndrome (OMIM: OMIM:616894, OMIM:180700, OMIM:268310, OMIM:616331)
ORPHA:97369 — Renal tubular dysgenesis of genetic origin (OMIM: OMIM:267430)
ORPHA:974 — Adams-Oliver syndrome (OMIM: OMIM:100300, OMIM:614219, OMIM:614814, OMIM:615297, OMIM:616028, OMIM:616589)
ORPHA:97548 — Right sided atrial isomerism (OMIM: OMIM:208530)
ORPHA:97560 — Primary membranous glomerulonephritis (OMIM: OMIM:614692)
ORPHA:976 — Adenine phosphoribosyltransferase deficiency (OMIM: OMIM:614723)
ORPHA:97685 — 17q11 microdeletion syndrome (OMIM: OMIM:613675)
ORPHA:977 — Adrenomyodystrophy (OMIM: OMIM:300270)
ORPHA:978 — ADULT syndrome (OMIM: OMIM:103285)
ORPHA:98 — Autosomal recessive spastic ataxia of Charlevoix-Saguenay (OMIM: OMIM:270550)
ORPHA:98277 — Acute myeloid leukemia with recurrent genetic anomaly (OMIM: OMIM:601626)
ORPHA:98292 — Mastocytosis (OMIM: OMIM:154800)
ORPHA:983 — Testicular regression syndrome (OMIM: OMIM:273250)
ORPHA:98434 — Hereditary combined deficiency of vitamin K-dependent clotting factors (OMIM: OMIM:277450, OMIM:607473)
ORPHA:98553 — Developmental defect of the eye (OMIM: OMIM:120200, OMIM:216820)
ORPHA:98606 — Syndromic orbital border hypoplasia (OMIM: OMIM:165600)
ORPHA:98619 — Rare isolated myopia (OMIM: OMIM:608908, OMIM:614292, OMIM:615431)
ORPHA:98673 — Autosomal dominant optic atrophy, classic form (OMIM: OMIM:618977, OMIM:605293, OMIM:165500, OMIM:610708)
ORPHA:98676 — Autosomal recessive isolated optic atrophy (OMIM: OMIM:616289, OMIM:617302, OMIM:258500, OMIM:616732)
ORPHA:98722 — Atrioventricular septal defect (OMIM: OMIM:606215, OMIM:606217, OMIM:614430, OMIM:614474, OMIM:615779)
ORPHA:98754 — Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (OMIM: OMIM:176270)
ORPHA:98755 — Spinocerebellar ataxia type 1 (OMIM: OMIM:164400)
ORPHA:98756 — Spinocerebellar ataxia type 2 (OMIM: OMIM:183090)
ORPHA:98757 — Spinocerebellar ataxia type 3 (OMIM: OMIM:109150)
ORPHA:98758 — Spinocerebellar ataxia type 6 (OMIM: OMIM:183086)
ORPHA:98759 — Spinocerebellar ataxia type 17 (OMIM: OMIM:607136)
ORPHA:98760 — Spinocerebellar ataxia type 8 (OMIM: OMIM:608768)
ORPHA:98761 — Spinocerebellar ataxia type 10 (OMIM: OMIM:603516)
ORPHA:98762 — Spinocerebellar ataxia type 12 (OMIM: OMIM:604326)
ORPHA:98763 — Spinocerebellar ataxia type 14 (OMIM: OMIM:605361)
ORPHA:98764 — Spinocerebellar ataxia type 27A (OMIM: OMIM:193003)
ORPHA:98765 — Spinocerebellar ataxia type 4 (OMIM: OMIM:600223)
ORPHA:98766 — Spinocerebellar ataxia type 5 (OMIM: OMIM:600224)
ORPHA:98767 — Spinocerebellar ataxia type 11 (OMIM: OMIM:604432)
ORPHA:98768 — Spinocerebellar ataxia type 13 (OMIM: OMIM:605259)
ORPHA:98769 — Spinocerebellar ataxia type 15/16 (OMIM: OMIM:606658)
ORPHA:98771 — Spinocerebellar ataxia type 18 (OMIM: OMIM:607458)
ORPHA:98772 — Spinocerebellar ataxia type 19/22 (OMIM: OMIM:607346)
ORPHA:98773 — Spinocerebellar ataxia type 21 (OMIM: OMIM:607454)
ORPHA:98784 — Autosomal dominant nocturnal frontal lobe epilepsy (OMIM: OMIM:600513, OMIM:603204, OMIM:605375, OMIM:610353, OMIM:615005)
ORPHA:98791 — Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 (OMIM: OMIM:141750)
ORPHA:98795 — Angelman syndrome due to paternal uniparental disomy of chromosome 15 (OMIM: OMIM:105830)
ORPHA:988 — Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (OMIM: OMIM:188740)
ORPHA:98805 — Primary dystonia, DYT4 type (OMIM: OMIM:128101)
ORPHA:98806 — Primary dystonia, DYT6 type (OMIM: OMIM:602629)
ORPHA:98807 — Primary dystonia, DYT13 type (OMIM: OMIM:607671)
ORPHA:98808 — Autosomal dominant dopa-responsive dystonia (OMIM: OMIM:128230, OMIM:619911)
ORPHA:98809 — Paroxysmal kinesigenic dyskinesia (OMIM: OMIM:128200, OMIM:611031)
ORPHA:98810 — Paroxysmal non-kinesigenic dyskinesia (OMIM: OMIM:118800, OMIM:611147)
ORPHA:98811 — Paroxysmal exertion-induced dyskinesia (OMIM: OMIM:612126)
ORPHA:98813 — Hypohidrotic ectodermal dysplasia with immunodeficiency (OMIM: OMIM:300291, OMIM:612132)
ORPHA:98818 — Landau-Kleffner syndrome (OMIM: OMIM:245570)
ORPHA:98819 — Familial temporal lobe epilepsy (OMIM: OMIM:608096, OMIM:611631)
ORPHA:98820 — Familial focal epilepsy with variable foci (OMIM: OMIM:604364, OMIM:617116, OMIM:617118)
ORPHA:98835 — Acute undifferentiated leukemia (OMIM: OMIM:601626)
ORPHA:98852 — Desquamative interstitial pneumonia (OMIM: OMIM:263000)
ORPHA:98853 — Autosomal dominant Emery-Dreifuss muscular dystrophy (OMIM: OMIM:181350, OMIM:612998, OMIM:612999, OMIM:614302)
ORPHA:98855 — Autosomal recessive Emery-Dreifuss muscular dystrophy (OMIM: OMIM:616516)
ORPHA:98856 — Charcot-Marie-Tooth disease type 2B1 (OMIM: OMIM:605588)
ORPHA:98863 — X-linked Emery-Dreifuss muscular dystrophy (OMIM: OMIM:300696, OMIM:310300)
ORPHA:98868 — Southeast Asian ovalocytosis (OMIM: OMIM:166900)
ORPHA:98869 — Congenital dyserythropoietic anemia type I (OMIM: OMIM:224120, OMIM:615631)
ORPHA:98870 — Congenital dyserythropoietic anemia type III (OMIM: OMIM:619789, OMIM:105600)
ORPHA:98871 — Transient erythroblastopenia of childhood (OMIM: OMIM:227050)
ORPHA:98873 — Congenital dyserythropoietic anemia type II (OMIM: OMIM:224100)
ORPHA:98878 — Hemophilia A (OMIM: OMIM:306700)
ORPHA:98879 — Hemophilia B (OMIM: OMIM:306900)
ORPHA:98880 — Familial afibrinogenemia (OMIM: OMIM:202400)
ORPHA:98881 — Familial dysfibrinogenemia (OMIM: OMIM:616004)
ORPHA:98885 — Bleeding diathesis due to glycoprotein VI deficiency (OMIM: OMIM:614201)
ORPHA:98886 — Bleeding diathesis due to integrin alpha2-beta1 deficiency (OMIM: OMIM:614200)
ORPHA:98889 — Bilateral perisylvian polymicrogyria (OMIM: OMIM:300388, OMIM:615752, OMIM:616531)
ORPHA:98890 — Early-onset X-linked optic atrophy (OMIM: OMIM:311050)
ORPHA:98892 — Periventricular nodular heterotopia (OMIM: OMIM:618918, OMIM:618185, OMIM:617201, OMIM:300049, OMIM:608097, OMIM:608098, OMIM:612881, OMIM:615544)
ORPHA:98893 — Congenital muscular dystrophy type 1B (OMIM: OMIM:604801)
ORPHA:98895 — Becker muscular dystrophy (OMIM: OMIM:159050, OMIM:300376)
ORPHA:98896 — Duchenne muscular dystrophy (OMIM: OMIM:310200)
ORPHA:98897 — Oculopharyngodistal myopathy (OMIM: OMIM:619790, OMIM:619473, OMIM:164310, OMIM:618940)
ORPHA:989 — Hypoglossia-hypodactyly syndrome (OMIM: OMIM:103300)
ORPHA:98902 — Amish nemaline myopathy (OMIM: OMIM:605355)
ORPHA:98904 — Congenital myopathy with excess of thin filaments (OMIM: OMIM:161800)
ORPHA:98905 — Congenital multicore myopathy with external ophthalmoplegia (OMIM: OMIM:255320)
ORPHA:98907 — Neutral lipid storage disease with ichthyosis (OMIM: OMIM:275630)
ORPHA:98908 — Neutral lipid storage disease with myopathy (OMIM: OMIM:610717)
ORPHA:98909 — Desminopathy (OMIM: OMIM:601419)
ORPHA:98911 — Distal myotilinopathy (OMIM: OMIM:609200)
ORPHA:98912 — Late-onset distal myopathy, Markesbery-Griggs type (OMIM: OMIM:609452)