TaoMedAI/RareMedData huggingface dataset:
ORPHA:100 — Ataxia-telangiectasia (OMIM: OMIM:208900, OMIM:208910)
ORPHA:1000 — Ocular albinism with late-onset sensorineural deafness (OMIM: OMIM:300650)
ORPHA:100006 — ABeta amyloidosis, Dutch type (OMIM: OMIM:605714)
ORPHA:100008 — ACys amyloidosis (OMIM: OMIM:105150)
ORPHA:100031 — Hypoplastic amelogenesis imperfecta (OMIM: OMIM:104500, OMIM:104530, OMIM:204650, OMIM:301201, OMIM:616221, OMIM:616270, OMIM:617297)
ORPHA:100032 — Hypocalcified amelogenesis imperfecta (OMIM: OMIM:130900, OMIM:616221, OMIM:617607)
ORPHA:100033 — Hypomaturation amelogenesis imperfecta (OMIM: OMIM:204700, OMIM:301200, OMIM:612529, OMIM:613211, OMIM:614832, OMIM:615887, OMIM:617217)
ORPHA:100034 — Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism (OMIM: OMIM:104510)
ORPHA:100043 — Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (OMIM: OMIM:606483)
ORPHA:100044 — Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (OMIM: OMIM:606482)
ORPHA:100045 — Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (OMIM: OMIM:608323)
ORPHA:100046 — Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (OMIM: OMIM:607791)
ORPHA:100050 — Hereditary angioedema type 1 (OMIM: OMIM:106100)
ORPHA:100051 — Hereditary angioedema type 2 (OMIM: OMIM:106100)
ORPHA:100054 — F12-related hereditary angioedema with normal C1Inh (OMIM: OMIM:610618)
ORPHA:100057 — Renin-angiotensin-aldosterone system-blocker-induced angioedema (OMIM: OMIM:300909)
ORPHA:100069 — Semantic dementia (OMIM: OMIM:172700, OMIM:600274)
ORPHA:100070 — Progressive non-fluent aphasia (OMIM: OMIM:607485, OMIM:172700, OMIM:600274)
ORPHA:1001 — 2q37 microdeletion syndrome (OMIM: OMIM:600430)
ORPHA:1003 — Scalp defects-postaxial polydactyly syndrome (OMIM: OMIM:181250)
ORPHA:1005 — Alopecia-contractures-dwarfism-intellectual disability syndrome (OMIM: OMIM:203550)
ORPHA:1008 — Alopecia-epilepsy-pyorrhea-intellectual disability syndrome (OMIM: OMIM:104130)
ORPHA:100924 — Porphyria due to ALA dehydratase deficiency (OMIM: OMIM:612740)
ORPHA:100973 — FRAXE intellectual disability (OMIM: OMIM:309548)
ORPHA:100976 — Bathing suit ichthyosis (OMIM: OMIM:242300)
ORPHA:100984 — Autosomal dominant spastic paraplegia type 3 (OMIM: OMIM:182600)
ORPHA:100985 — Autosomal dominant spastic paraplegia type 4 (OMIM: OMIM:182601)
ORPHA:100986 — Autosomal recessive spastic paraplegia type 5A (OMIM: OMIM:270800)
ORPHA:100988 — Autosomal dominant spastic paraplegia type 6 (OMIM: OMIM:600363)
ORPHA:100989 — Autosomal dominant spastic paraplegia type 8 (OMIM: OMIM:603563)
ORPHA:100991 — Autosomal dominant spastic paraplegia type 10 (OMIM: OMIM:604187)
ORPHA:100993 — Autosomal dominant spastic paraplegia type 12 (OMIM: OMIM:604805)
ORPHA:100994 — Autosomal dominant spastic paraplegia type 13 (OMIM: OMIM:605280)
ORPHA:100995 — Autosomal recessive spastic paraplegia type 14 (OMIM: OMIM:605229)
ORPHA:100996 — Autosomal recessive spastic paraplegia type 15 (OMIM: OMIM:270700)
ORPHA:100997 — X-linked spastic paraplegia type 16 (OMIM: OMIM:300266)
ORPHA:100998 — Autosomal dominant spastic paraplegia type 17 (OMIM: OMIM:270685)
ORPHA:100999 — Autosomal dominant spastic paraplegia type 19 (OMIM: OMIM:607152)
ORPHA:101 — Dentatorubral pallidoluysian atrophy (OMIM: OMIM:125370)
ORPHA:1010 — Autosomal dominant palmoplantar keratoderma and congenital alopecia (OMIM: OMIM:104100)
ORPHA:101000 — Autosomal recessive spastic paraplegia type 20 (OMIM: OMIM:275900)
ORPHA:101001 — Autosomal recessive spastic paraplegia type 21 (OMIM: OMIM:248900)
ORPHA:101003 — Autosomal recessive spastic paraplegia type 23 (OMIM: OMIM:270750)
ORPHA:101004 — Autosomal recessive spastic paraplegia type 24 (OMIM: OMIM:607584)
ORPHA:101005 — Autosomal recessive spastic paraplegia type 25 (OMIM: OMIM:608220)
ORPHA:101006 — Autosomal recessive spastic paraplegia type 26 (OMIM: OMIM:609195)
ORPHA:101007 — Autosomal recessive spastic paraplegia type 27 (OMIM: OMIM:609041)
ORPHA:101008 — Autosomal recessive spastic paraplegia type 28 (OMIM: OMIM:609340)
ORPHA:101009 — Autosomal dominant spastic paraplegia type 29 (OMIM: OMIM:609727)
ORPHA:101010 — Autosomal spastic paraplegia type 30 (OMIM: OMIM:610357)
ORPHA:101011 — Autosomal dominant spastic paraplegia type 31 (OMIM: OMIM:610250)
ORPHA:101016 — Romano-Ward syndrome (OMIM: OMIM:613695, OMIM:616247, OMIM:616249, OMIM:192500, OMIM:600919, OMIM:603830, OMIM:611818, OMIM:611819, OMIM:611820, OMIM:612955, OMIM:613485, OMIM:613688, OMIM:613693)
ORPHA:101028 — Transaldolase deficiency (OMIM: OMIM:606003)
ORPHA:101039 — Female restricted epilepsy with intellectual disability (OMIM: OMIM:300088)
ORPHA:101041 — Familial hypofibrinogenemia (OMIM: OMIM:202400)
ORPHA:101046 — Autosomal dominant epilepsy with auditory features (OMIM: OMIM:600512, OMIM:616436, OMIM:616461)
ORPHA:101049 — Familial hypocalciuric hypercalcemia type 2 (OMIM: OMIM:145981)
ORPHA:101050 — Familial hypocalciuric hypercalcemia type 3 (OMIM: OMIM:600740)
ORPHA:101068 — Congenital stromal corneal dystrophy (OMIM: OMIM:610048)
ORPHA:101070 — Bilateral frontoparietal polymicrogyria (OMIM: OMIM:606854)
ORPHA:101075 — X-linked Charcot-Marie-Tooth disease type 1 (OMIM: OMIM:302800)
ORPHA:101076 — X-linked Charcot-Marie-Tooth disease type 2 (OMIM: OMIM:302801)
ORPHA:101077 — X-linked Charcot-Marie-Tooth disease type 3 (OMIM: OMIM:302802)
ORPHA:101078 — X-linked Charcot-Marie-Tooth disease type 4 (OMIM: OMIM:310490)
ORPHA:101081 — Charcot-Marie-Tooth disease type 1A (OMIM: OMIM:118220)
ORPHA:101082 — Charcot-Marie-Tooth disease type 1B (OMIM: OMIM:118200)
ORPHA:101083 — Charcot-Marie-Tooth disease type 1C (OMIM: OMIM:601098)
ORPHA:101084 — Charcot-Marie-Tooth disease type 1D (OMIM: OMIM:607678)
ORPHA:101085 — Charcot-Marie-Tooth disease type 1F (OMIM: OMIM:607734)
ORPHA:101088 — X-linked hyper-IgM syndrome (OMIM: OMIM:308230)
ORPHA:101089 — Hyper-IgM syndrome type 2 (OMIM: OMIM:605258)
ORPHA:101090 — Hyper-IgM syndrome type 3 (OMIM: OMIM:606843)
ORPHA:101091 — Hyper-IgM syndrome type 4 (OMIM: OMIM:608184)
ORPHA:101092 — Hyper-IgM syndrome type 5 (OMIM: OMIM:608106)
ORPHA:101097 — Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (OMIM: OMIM:607706, OMIM:607831)
ORPHA:101101 — Charcot-Marie-Tooth disease type 2B2 (OMIM: OMIM:605589)
ORPHA:101102 — Charcot-Marie-Tooth disease type 2H (OMIM: OMIM:607731)
ORPHA:101108 — Spinocerebellar ataxia type 23 (OMIM: OMIM:610245)
ORPHA:101109 — Spinocerebellar ataxia type 28 (OMIM: OMIM:610246)
ORPHA:101110 — Spinocerebellar ataxia type 20 (OMIM: OMIM:608687)
ORPHA:101111 — Spinocerebellar ataxia type 25 (OMIM: OMIM:608703)
ORPHA:101112 — Spinocerebellar ataxia type 26 (OMIM: OMIM:609306)
ORPHA:101150 — Autosomal recessive dopa-responsive dystonia (OMIM: OMIM:605407)
ORPHA:101330 — Porphyria cutanea tarda (OMIM: OMIM:176090, OMIM:176100)
ORPHA:101351 — Familial isolated congenital asplenia (OMIM: OMIM:271400)
ORPHA:1014 — Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome (OMIM: OMIM:601217)
ORPHA:1018 — X-linked Alport syndrome-diffuse leiomyomatosis (OMIM: OMIM:150700, OMIM:308940)
ORPHA:102 — Multiple system atrophy (OMIM: OMIM:146500)
ORPHA:1020 — Early-onset autosomal dominant Alzheimer disease (OMIM: OMIM:604154, OMIM:104300, OMIM:104310, OMIM:602096, OMIM:605055, OMIM:605526, OMIM:606187, OMIM:606889, OMIM:607116, OMIM:607822, OMIM:609636, OMIM:609790, OMIM:611073, OMIM:611152, OMIM:611154)
ORPHA:1021 — Amaurosis-hypertrichosis syndrome (OMIM: OMIM:204110)
ORPHA:1023 — Congenital generalized hypertrichosis, Ambras type (OMIM: OMIM:145701)
ORPHA:1028 — Amelo-onycho-hypohidrotic syndrome (OMIM: OMIM:104570)
ORPHA:1031 — Enamel-renal syndrome (OMIM: OMIM:204690)
ORPHA:1035 — Beta-mercaptolactate cysteine disulfiduria (OMIM: OMIM:249650)
ORPHA:103908 — Congenital sodium diarrhea (OMIM: OMIM:270420, OMIM:616868)
ORPHA:103909 — Trehalase deficiency (OMIM: OMIM:612119)
ORPHA:103918 — Tropical pancreatitis (OMIM: OMIM:608189)
ORPHA:104 — Leber hereditary optic neuropathy (OMIM: OMIM:619382, OMIM:308905, OMIM:535000)
ORPHA:1040 — Metaphyseal anadysplasia (OMIM: OMIM:602111, OMIM:613073)
ORPHA:1041 — Hydrops fetalis (OMIM: OMIM:236750)
ORPHA:1046 — Lethal hemolytic anemia-genital anomalies syndrome (OMIM: OMIM:600461)
ORPHA:1047 — Sideroblastic anemia (OMIM: OMIM:182170, OMIM:205950, OMIM:300751, OMIM:619523)
ORPHA:1048 — Isolated anencephaly/exencephaly (OMIM: OMIM:619452, OMIM:206500)
ORPHA:1051 — Ramos-Arroyo syndrome (OMIM: OMIM:122430)
ORPHA:1052 — Mosaic variegated aneuploidy syndrome (OMIM: OMIM:620153, OMIM:257300, OMIM:614114, OMIM:620189, OMIM:617598)
ORPHA:1059 — Blue rubber bleb nevus (OMIM: OMIM:112200)
ORPHA:1062 — Hereditary neurocutaneous malformation (OMIM: OMIM:106070)
ORPHA:1063 — Tufted angioma (OMIM: OMIM:607859)
ORPHA:1064 — Aniridia-renal agenesis-psychomotor retardation syndrome (OMIM: OMIM:206750)
ORPHA:1065 — Aniridia-cerebellar ataxia-intellectual disability syndrome (OMIM: OMIM:206700)
ORPHA:1069 — Aniridia-absent patella syndrome (OMIM: OMIM:106220)
ORPHA:107 — BOR syndrome (OMIM: OMIM:113650, OMIM:610896)
ORPHA:1071 — Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (OMIM: OMIM:106260)
ORPHA:1072 — Ankyloblepharon filiforme adnatum-cleft palate syndrome (OMIM: OMIM:106250)
ORPHA:1078 — Thumb stiffness-brachydactyly-intellectual disability syndrome (OMIM: OMIM:188201)
ORPHA:1083 — Microlissencephaly (OMIM: OMIM:614019, OMIM:616212)
ORPHA:109 — Bannayan-Riley-Ruvalcaba syndrome (OMIM: OMIM:158350)
ORPHA:1094 — Anonychia-microcephaly syndrome (OMIM: OMIM:607214)
ORPHA:110 — Bardet-Biedl syndrome (OMIM: OMIM:617119, OMIM:209900, OMIM:600151, OMIM:605231, OMIM:615981, OMIM:615982, OMIM:615983, OMIM:615984, OMIM:615985, OMIM:615986, OMIM:615987, OMIM:615988, OMIM:615989, OMIM:615990, OMIM:615991, OMIM:615992, OMIM:615993, OMIM:615994, OMIM:615995, OMIM:615996, OMIM:617406)
ORPHA:1104 — Anophthalmia plus syndrome (OMIM: OMIM:600776)
ORPHA:1106 — Microphthalmia with limb anomalies (OMIM: OMIM:206920)
ORPHA:111 — Barth syndrome (OMIM: OMIM:302060)
ORPHA:1110 — Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome (OMIM: OMIM:107500)
ORPHA:1112 — Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome (OMIM: OMIM:207620)
ORPHA:1113 — Aphalangy-syndactyly-microcephaly syndrome (OMIM: OMIM:600384)
ORPHA:1114 — Aplasia cutis congenita (OMIM: OMIM:600360, OMIM:107600)
ORPHA:1116 — Aplasia cutis congenita-intestinal lymphangiectasia syndrome (OMIM: OMIM:207731)
ORPHA:1117 — Aplasia cutis-myopia syndrome (OMIM: OMIM:601075)
ORPHA:1118 — Fibular aplasia-ectrodactyly syndrome (OMIM: OMIM:113310)
ORPHA:112 — Bartter syndrome (OMIM: OMIM:241200, OMIM:601198, OMIM:601678, OMIM:602522, OMIM:607364, OMIM:613090, OMIM:300971)
ORPHA:1120 — Lung agenesis-heart defect-thumb anomalies syndrome (OMIM: OMIM:601612)
ORPHA:1122 — Ulnar hypoplasia-split foot syndrome (OMIM: OMIM:314360)
ORPHA:1125 — Ocular motor apraxia, Cogan type (OMIM: OMIM:257550)
ORPHA:1126 — Aprosencephaly cerebellar dysgenesis (OMIM: OMIM:601374)
ORPHA:113 — Bazex-Dupré-Christol syndrome (OMIM: OMIM:301845)
ORPHA:1131 — X-linked mandibulofacial dysostosis (OMIM: OMIM:301950)
ORPHA:1133 — AREDYLD syndrome (OMIM: OMIM:207780)
ORPHA:114 — Auriculoosteodysplasia (OMIM: OMIM:109000)
ORPHA:1143 — Neurogenic arthrogryposis multiplex congenita (OMIM: OMIM:208100)
ORPHA:1144 — Arthrogryposis-like hand anomaly-sensorineural deafness syndrome (OMIM: OMIM:108200)
ORPHA:1145 — Infantile-onset X-linked spinal muscular atrophy (OMIM: OMIM:301830)
ORPHA:1146 — Distal arthrogryposis type 1 (OMIM: OMIM:618435, OMIM:108120, OMIM:126050, OMIM:614335, OMIM:619110)
ORPHA:1147 — Sheldon-Hall syndrome (OMIM: OMIM:616266, OMIM:618435, OMIM:601680)
ORPHA:1149 — Kuskokwim syndrome (OMIM: OMIM:259450)
ORPHA:115 — Congenital contractural arachnodactyly (OMIM: OMIM:121050)
ORPHA:1150 — Arthrogryposis multiplex congenita-whistling face syndrome (OMIM: OMIM:208155)
ORPHA:1154 — Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome (OMIM: OMIM:108145)
ORPHA:1159 — Progressive pseudorheumatoid dysplasia (OMIM: OMIM:208230)
ORPHA:116 — Beckwith-Wiedemann syndrome (OMIM: OMIM:130650)
ORPHA:1160 — Chylous ascites (OMIM: OMIM:208300)
ORPHA:1163 — Aspergillosis (OMIM: OMIM:614079)
ORPHA:1164 — Allergic bronchopulmonary aspergillosis (OMIM: OMIM:103920)
ORPHA:1168 — Ataxia-oculomotor apraxia type 1 (OMIM: OMIM:208920)
ORPHA:117 — Behçet disease (OMIM: OMIM:109650)
ORPHA:1170 — Autosomal recessive cerebelloparenchymal disorder type 3 (OMIM: OMIM:213200)
ORPHA:1171 — Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome (OMIM: OMIM:601338)
ORPHA:1173 — Cerebellar ataxia-hypogonadism syndrome (OMIM: OMIM:212840, OMIM:605672)
ORPHA:1174 — Cerebellar ataxia-ectodermal dysplasia syndrome (OMIM: OMIM:212835)
ORPHA:1175 — X-linked progressive cerebellar ataxia (OMIM: OMIM:302500, OMIM:302800)
ORPHA:1177 — Early-onset cerebellar ataxia with retained tendon reflexes (OMIM: OMIM:212895)
ORPHA:1178 — Ataxia-tapetoretinal degeneration syndrome (OMIM: OMIM:272600)
ORPHA:1179 — Benign paroxysmal tonic upgaze of childhood with ataxia (OMIM: OMIM:168885)
ORPHA:118 — Beta-mannosidosis (OMIM: OMIM:248510)
ORPHA:1180 — Ataxia-hypogonadism-choroidal dystrophy syndrome (OMIM: OMIM:215470)
ORPHA:1182 — Spastic ataxia with congenital miosis (OMIM: OMIM:108650)
ORPHA:1185 — Spinocerebellar ataxia-dysmorphism syndrome (OMIM: OMIM:271270)
ORPHA:1186 — Infantile-onset spinocerebellar ataxia (OMIM: OMIM:271245)
ORPHA:1187 — Lethal ataxia with deafness and optic atrophy (OMIM: OMIM:301835)
ORPHA:1188 — Ataxia-deafness-intellectual disability syndrome (OMIM: OMIM:208850)
ORPHA:119 — Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 (OMIM: OMIM:604286)
ORPHA:1190 — Atelosteogenesis type I (OMIM: OMIM:108720)
ORPHA:1192 — Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome (OMIM: OMIM:209010)
ORPHA:1193 — Atkin-Flaitz syndrome (OMIM: OMIM:300431)
ORPHA:1194 — TMEM70-related mitochondrial encephalo-cardio-myopathy (OMIM: OMIM:614052)
ORPHA:1195 — Congenital atransferrinemia (OMIM: OMIM:209300)
ORPHA:1198 — Colonic atresia (OMIM: OMIM:303650)
ORPHA:1199 — Esophageal atresia (OMIM: OMIM:189960)
ORPHA:1200 — Burn-McKeown syndrome (OMIM: OMIM:608572, OMIM:616462)
ORPHA:1201 — Small bowel atresia (OMIM: OMIM:243600)
ORPHA:1202 — Larynx atresia (OMIM: OMIM:150300)
ORPHA:1203 — Duodenal atresia (OMIM: OMIM:223400)
ORPHA:1207 — Pulmonary atresia with ventricular septal defect (OMIM: OMIM:178370)
ORPHA:1208 — Pulmonary atresia-intact ventricular septum syndrome (OMIM: OMIM:265150)
ORPHA:1209 — Tricuspid atresia (OMIM: OMIM:605067)
ORPHA:1214 — Progressive hemifacial atrophy (OMIM: OMIM:141300)
ORPHA:1215 — Autosomal dominant optic atrophy plus syndrome (OMIM: OMIM:125250, OMIM:165199, OMIM:616648)
ORPHA:1216 — Autosomal dominant congenital benign spinal muscular atrophy (OMIM: OMIM:600175)
ORPHA:122 — Birt-Hogg-Dubé syndrome (OMIM: OMIM:135150)
ORPHA:1221 — Cheilitis glandularis (OMIM: OMIM:118330)
ORPHA:1225 — Baller-Gerold syndrome (OMIM: OMIM:218600)
ORPHA:1226 — Bamforth-Lazarus syndrome (OMIM: OMIM:241850)
ORPHA:1227 — Bangstad syndrome (OMIM: OMIM:210740)
ORPHA:1228 — Banki syndrome (OMIM: OMIM:109300)
ORPHA:1229 — Congenital intrauterine infection-like syndrome (OMIM: OMIM:251290)
ORPHA:123 — Björnstad syndrome (OMIM: OMIM:262000)
ORPHA:1231 — Barber-Say syndrome (OMIM: OMIM:209885)
ORPHA:1234 — Bartsocas-Papas syndrome (OMIM: OMIM:263650, OMIM:619339)
ORPHA:1237 — Beemer-Ertbruggen syndrome (OMIM: OMIM:209970)
ORPHA:1239 — Behr syndrome (OMIM: OMIM:210000)
ORPHA:124 — Diamond-Blackfan anemia (OMIM: OMIM:105650, OMIM:300946, OMIM:606129, OMIM:606164, OMIM:610629, OMIM:612527, OMIM:612528, OMIM:612561, OMIM:612562, OMIM:612563, OMIM:613308, OMIM:613309, OMIM:614900, OMIM:615550, OMIM:615909, OMIM:618313, OMIM:618312, OMIM:618310, OMIM:617409, OMIM:617408, OMIM:620072)
ORPHA:1241 — Bencze syndrome (OMIM: OMIM:141350)
ORPHA:1243 — Best vitelliform macular dystrophy (OMIM: OMIM:153700)
ORPHA:1246 — Brachydactyly-nystagmus-cerebellar ataxia syndrome (OMIM: OMIM:113400)
ORPHA:1247 — Schistosomiasis (OMIM: OMIM:181460)
ORPHA:1248 — Maxillonasal dysplasia (OMIM: OMIM:155050)
ORPHA:125 — Bloom syndrome (OMIM: OMIM:210900)
ORPHA:1252 — Blepharonasofacial malformation syndrome (OMIM: OMIM:110050)
ORPHA:1253 — Ascher syndrome (OMIM: OMIM:109900)
ORPHA:1259 — Blepharoptosis-myopia-ectopia lentis syndrome (OMIM: OMIM:110150)
ORPHA:126 — Blepharophimosis-ptosis-epicanthus inversus syndrome (OMIM: OMIM:110100)
ORPHA:1261 — Bonnemann-Meinecke-Reich syndrome (OMIM: OMIM:225755)
ORPHA:1262 — Böök syndrome (OMIM: OMIM:112300)
ORPHA:1263 — Boomerang dysplasia (OMIM: OMIM:112310)
ORPHA:1264 — Tricho-retino-dento-digital syndrome (OMIM: OMIM:191482)
ORPHA:127 — Borjeson-Forssman-Lehmann syndrome (OMIM: OMIM:301900)
ORPHA:1270 — Bowen-Conradi syndrome (OMIM: OMIM:211180)
ORPHA:1272 — Aymé-Gripp syndrome (OMIM: OMIM:601088)
ORPHA:1275 — Brachydactyly-elbow wrist dysplasia syndrome (OMIM: OMIM:186550)
ORPHA:1276 — Brachydactyly-arterial hypertension syndrome (OMIM: OMIM:112410)
ORPHA:1278 — Brachydactyly-preaxial hallux varus syndrome (OMIM: OMIM:112450)
ORPHA:1292 — Brachymorphism-onychodysplasia-dysphalangism syndrome (OMIM: OMIM:113477)
ORPHA:1295 — Brachytelephalangy-dysmorphism-Kallmann syndrome (OMIM: OMIM:113480)
ORPHA:1296 — Lambert syndrome (OMIM: OMIM:245550)
ORPHA:1297 — Branchio-oculo-facial syndrome (OMIM: OMIM:113620)
ORPHA:1299 — Branchioskeletogenital syndrome (OMIM: OMIM:211380)
ORPHA:13 — 6-pyruvoyl-tetrahydropterin synthase deficiency (OMIM: OMIM:261640)
ORPHA:130 — Brugada syndrome (OMIM: OMIM:601144, OMIM:611777, OMIM:611875, OMIM:611876, OMIM:612838, OMIM:613119, OMIM:613120, OMIM:613123, OMIM:616399)
ORPHA:1300 — Autosomal dominant popliteal pterygium syndrome (OMIM: OMIM:119500)
ORPHA:1305 — Feingold syndrome (OMIM: OMIM:164280, OMIM:614326)
ORPHA:1307 — Distal limb deficiencies-micrognathia syndrome (OMIM: OMIM:246560)
ORPHA:1308 — C syndrome (OMIM: OMIM:211750)
ORPHA:131 — Budd-Chiari syndrome (OMIM: OMIM:600880)
ORPHA:1310 — Caffey disease (OMIM: OMIM:114000)
ORPHA:1313 — Infantile choroidocerebral calcification syndrome (OMIM: OMIM:215480)
ORPHA:1318 — Campomelia, Cumming type (OMIM: OMIM:211890)
ORPHA:1319 — Camptobrachydactyly (OMIM: OMIM:114150)
ORPHA:132 — Hereditary butyrylcholinesterase deficiency (OMIM: OMIM:617936)
ORPHA:1321 — Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome (OMIM: OMIM:211930)
ORPHA:1323 — Camptodactyly-joint contractures-facial skeletal defects syndrome (OMIM: OMIM:602612)
ORPHA:1326 — Camptodactyly syndrome, Guadalajara type 2 (OMIM: OMIM:211920)
ORPHA:1327 — Camptodactyly syndrome, Guadalajara type 1 (OMIM: OMIM:211910)
ORPHA:1328 — Camurati-Engelmann disease (OMIM: OMIM:131300)
ORPHA:1331 — Familial prostate cancer (OMIM: OMIM:608658, OMIM:609299, OMIM:609558, OMIM:610321, OMIM:610997, OMIM:611100, OMIM:611868, OMIM:611928, OMIM:611955, OMIM:611958, OMIM:611959, OMIM:614731, OMIM:176807, OMIM:300147, OMIM:300704, OMIM:601518, OMIM:602759, OMIM:603688, OMIM:608656)
ORPHA:1333 — Familial pancreatic carcinoma (OMIM: OMIM:614320, OMIM:260350, OMIM:606856, OMIM:613347, OMIM:613348)
ORPHA:1334 — Chronic mucocutaneous candidiasis (OMIM: OMIM:114580, OMIM:247650, OMIM:252250, OMIM:607644, OMIM:613108, OMIM:613953, OMIM:613956, OMIM:615527, OMIM:616445)
ORPHA:1335 — Pentalogy of Cantrell (OMIM: OMIM:313850)
ORPHA:1336 — Hyperkeratosis-hyperpigmentation syndrome (OMIM: OMIM:144190)
ORPHA:1338 — Heart defect-tongue hamartoma-polysyndactyly syndrome (OMIM: OMIM:217085)
ORPHA:134 — Beta-ketothiolase deficiency (OMIM: OMIM:203750)
ORPHA:1340 — Cardiofaciocutaneous syndrome (OMIM: OMIM:115150, OMIM:615278, OMIM:615279, OMIM:615280)
ORPHA:1342 — Heart-hand syndrome type 3 (OMIM: OMIM:140450)
ORPHA:1344 — Atrial standstill (OMIM: OMIM:108770, OMIM:615745)
ORPHA:135 — CACH syndrome (OMIM: OMIM:603896, OMIM:615889)
ORPHA:1352 — Atrioventricular defect-blepharophimosis-radial and anal defect syndrome (OMIM: OMIM:600123)
ORPHA:1354 — Heart defects-limb shortening syndrome (OMIM: OMIM:212135)
ORPHA:1355 — Congenital heart defect-round face-developmental delay syndrome (OMIM: OMIM:270460)
ORPHA:1358 — Carey-Fineman-Ziter syndrome (OMIM: OMIM:254940, OMIM:619941)
ORPHA:1359 — Carney complex (OMIM: OMIM:160980, OMIM:605244)
ORPHA:136 — Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (OMIM: OMIM:125310)
ORPHA:1361 — Carnosinase deficiency (OMIM: OMIM:212200)
ORPHA:1366 — Autosomal recessive palmoplantar keratoderma and congenital alopecia (OMIM: OMIM:212360)
ORPHA:1368 — Cataract-ataxia-deafness syndrome (OMIM: OMIM:212710)
ORPHA:1369 — Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome (OMIM: OMIM:212350, OMIM:615418)
ORPHA:1373 — Cataract-aberrant oral frenula-growth delay syndrome (OMIM: OMIM:115645)
ORPHA:1375 — Cataract-hypertrichosis-intellectual disability syndrome (OMIM: OMIM:211770)
ORPHA:137605 — Legius syndrome (OMIM: OMIM:611431)
ORPHA:137625 — Glycogen storage disease due to muscle and heart glycogen synthase deficiency (OMIM: OMIM:611556)
ORPHA:137631 — Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome (OMIM: OMIM:611926)
ORPHA:137639 — Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome (OMIM: OMIM:607694)
ORPHA:137667 — Capillary malformation-arteriovenous malformation (OMIM: OMIM:608354, OMIM:618196)
ORPHA:137675 — Histiocytoid cardiomyopathy (OMIM: OMIM:212080, OMIM:500000)
ORPHA:137678 — Spondyloepiphyseal dysplasia with metatarsal shortening (OMIM: OMIM:609162)
ORPHA:137681 — Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (OMIM: OMIM:609060)
ORPHA:1377 — Cataract-microcornea syndrome (OMIM: OMIM:115700, OMIM:116200, OMIM:601547, OMIM:604219)
ORPHA:137754 — Aminoacylase 1 deficiency (OMIM: OMIM:609924)
ORPHA:137776 — Lethal congenital contracture syndrome type 2 (OMIM: OMIM:607598)
ORPHA:137783 — Lethal congenital contracture syndrome type 3 (OMIM: OMIM:611369, OMIM:614915)
ORPHA:137817 — Arachnoiditis (OMIM: OMIM:182950)
ORPHA:137831 — X-linked intellectual disability-cerebellar hypoplasia syndrome (OMIM: OMIM:300486)
ORPHA:137834 — Frank-Ter Haar syndrome (OMIM: OMIM:249420)
ORPHA:137888 — Auriculocondylar syndrome (OMIM: OMIM:602483, OMIM:612798, OMIM:614669, OMIM:615706)
ORPHA:137893 — Male infertility due to large-headed multiflagellar polyploid spermatozoa (OMIM: OMIM:243060)
ORPHA:137898 — Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome (OMIM: OMIM:611105)
ORPHA:137908 — Hypotonia with lactic acidemia and hyperammonemia (OMIM: OMIM:611719)
ORPHA:137914 — Choanal atresia (OMIM: OMIM:608911)
ORPHA:138 — CHARGE syndrome (OMIM: OMIM:214800)
ORPHA:1380 — Cataract-nephropathy-encephalopathy syndrome (OMIM: OMIM:218900)
ORPHA:1387 — Cataract-intellectual disability-hypogonadism syndrome (OMIM: OMIM:212720, OMIM:619420)
ORPHA:1388 — Catel-Manzke syndrome (OMIM: OMIM:616145)
ORPHA:1389 — Cortical blindness-intellectual disability-polydactyly syndrome (OMIM: OMIM:218010)
ORPHA:139 — CHILD syndrome (OMIM: OMIM:308050)
ORPHA:1393 — Cerebrocostomandibular syndrome (OMIM: OMIM:117650)
ORPHA:139396 — X-linked cerebral adrenoleukodystrophy (OMIM: OMIM:300100)
ORPHA:139399 — Adrenomyeloneuropathy (OMIM: OMIM:300100)
ORPHA:1394 — Cerebrofaciothoracic dysplasia (OMIM: OMIM:616994, OMIM:213980)
ORPHA:139406 — Encephalopathy due to prosaposin deficiency (OMIM: OMIM:611721)
ORPHA:139411 — Carney triad (OMIM: OMIM:604287)
ORPHA:139441 — Hypomyelination with atrophy of basal ganglia and cerebellum (OMIM: OMIM:617899, OMIM:612438)
ORPHA:139450 — Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome (OMIM: OMIM:611863)
ORPHA:139455 — Autosomal recessive bestrophinopathy (OMIM: OMIM:611809)
ORPHA:139466 — SERKAL syndrome (OMIM: OMIM:611812)
ORPHA:139471 — Microphthalmia with brain and digit anomalies (OMIM: OMIM:607932)
ORPHA:139474 — 17q11.2 microduplication syndrome (OMIM: OMIM:618874)
ORPHA:139480 — Autosomal recessive spastic paraplegia type 39 (OMIM: OMIM:612020)
ORPHA:139485 — Autosomal recessive ataxia due to ubiquinone deficiency (OMIM: OMIM:619028, OMIM:612016)
ORPHA:139507 — Dietary iron overload disease (OMIM: OMIM:601195)