TaoMedAI/RareMedData huggingface dataset:
ORPHA:1041: Fetal anasarca
ORPHA:1041: Fetal hydrops
ORPHA:1041: Generalized fetal edema
ORPHA:1041: HF
ORPHA:1046: Lethal hemolytic anemia-genital anomalies syndrome
ORPHA:1046: Water-West syndrome
ORPHA:1047: Sideroblastic anemia
ORPHA:1048: Isolated anencephaly/exencephaly
ORPHA:105: Atresia of urethra
ORPHA:105: Urethral atresia
ORPHA:1051: Ramos-Arroyo syndrome
ORPHA:1051: Corneal anesthesia-deafness-intellectual disability syndrome
ORPHA:1051: Corneal anesthesia-hearing loss-intellectual disability syndrome
ORPHA:1052: Mosaic variegated aneuploidy syndrome
ORPHA:1052: Warburton-Anyane-Yeboa syndrome
ORPHA:1053: Vein of Galen aneurysmal malformation
ORPHA:1053: Vein of Galen arteriovenous malformations
ORPHA:1054: Aneurysm of sinus of Valsalva
ORPHA:1054: SOVA
ORPHA:1054: SVA
ORPHA:1054: Sinus of Valsalva aneurysm
ORPHA:1055: Congenital left ventricular aneurysm
ORPHA:1059: Blue rubber bleb nevus
ORPHA:1059: BRBN
ORPHA:1059: Bean syndrome
ORPHA:1062: Hereditary neurocutaneous malformation
ORPHA:1063: Tufted angioma
ORPHA:1063: Nakagawa angioblastoma
ORPHA:1064: Aniridia-renal agenesis-psychomotor retardation syndrome
ORPHA:1064: Sommer-Rathbun-Battles syndrome
ORPHA:1065: Aniridia-cerebellar ataxia-intellectual disability syndrome
ORPHA:1065: Gillespie syndrome
ORPHA:1067: Aniridia-ptosis-intellectual disability-familial obesity syndrome
ORPHA:1068: Aniridia-intellectual disability syndrome
ORPHA:1068: Walker-Dyson syndrome
ORPHA:1069: Aniridia-absent patella syndrome
ORPHA:107: BOR syndrome
ORPHA:107: Branchiootorenal spectrum disorder
ORPHA:107: Branchiootorenal syndrome
ORPHA:107: Melnick-Fraser syndrome
ORPHA:1070: Anisakiasis
ORPHA:1071: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ORPHA:1071: AEC syndrome
ORPHA:1071: Hay-Wells syndrome
ORPHA:1072: Ankyloblepharon filiforme adnatum-cleft palate syndrome
ORPHA:1074: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
ORPHA:1074: Aughton-Hufnagle syndrome
ORPHA:1077: Dental ankylosis
ORPHA:1077: Ankylosis of teeth
ORPHA:1078: Thumb stiffness-brachydactyly-intellectual disability syndrome
ORPHA:1078: Piussan-Lenaerts-Mathieu syndrome
ORPHA:108: Babesiosis
ORPHA:1081: Coronary artery congenital malformation
ORPHA:1083: Microlissencephaly
ORPHA:1084: Isolated lissencephaly type 1 without known genetic defects
ORPHA:108959: Non-syndromic esophageal malformation
ORPHA:108961: Syndromic esophageal malformation
ORPHA:108963: Non-syndromic gastroduodenal malformation
ORPHA:108965: Syndromic gastroduodenal malformation
ORPHA:108967: Non-syndromic intestinal malformation
ORPHA:108969: Syndromic intestinal malformation
ORPHA:108971: Non-syndromic visceral malformation
ORPHA:108973: Syndromic visceral malformation
ORPHA:108977: Non-syndromic diaphragmatic or abdominal wall malformation
ORPHA:108979: Syndromic diaphragmatic or abdominal wall malformation
ORPHA:108989: Non-syndromic central nervous system malformation
ORPHA:108991: Syndrome with a central nervous system malformation as a major feature
ORPHA:108993: Non-syndromic respiratory or mediastinal malformation
ORPHA:108995: Syndromic respiratory or mediastinal malformation
ORPHA:108997: Rare anemia
ORPHA:108999: Rare disorder due to toxic effects
ORPHA:109: Bannayan-Riley-Ruvalcaba syndrome
ORPHA:109: BRRS
ORPHA:109: Myhre-Riley-Smith syndrome
ORPHA:109007: Arthrogryposis syndrome
ORPHA:109009: Syndrome with limb malformations as a major feature
ORPHA:109011: Non-syndromic limb malformation
ORPHA:1094: Anonychia-microcephaly syndrome
ORPHA:1094: Teebi-Kaurah syndrome
ORPHA:11: Pentasomy X syndrome
ORPHA:11: 49,XXXXX syndrome
ORPHA:11: Penta-X
ORPHA:11: Poly-X
ORPHA:110: Bardet-Biedl syndrome
ORPHA:110: BBS
ORPHA:1101: Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
ORPHA:1101: Cassia Stocco dos Santos syndrome
ORPHA:1104: Anophthalmia plus syndrome
ORPHA:1104: Fryns microphthalmia syndrome
ORPHA:1104: Microphthalmia with facial clefting
ORPHA:1106: Microphthalmia with limb anomalies
ORPHA:1106: Anophthalmia-syndactyly syndrome
ORPHA:1106: OAS
ORPHA:1106: Ophthalmoacromelic syndrome
ORPHA:1106: Waardenburg anophthalmia syndrome
ORPHA:111: Barth syndrome
ORPHA:111: 3-methylglutaconic aciduria type 2
ORPHA:111: BTHS
ORPHA:111: Cardioskeletal myopathy with neutropenia and abnormal mitochondria
ORPHA:111: Cardioskeletal myopathy-neutropenia syndrome
ORPHA:111: MGA2
ORPHA:111: X-linked cardioskeletal myopathy and neutropenia
ORPHA:1110: Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
ORPHA:1112: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
ORPHA:1112: Johnson-Munson syndrome
ORPHA:1113: Aphalangy-syndactyly-microcephaly syndrome
ORPHA:1114: Aplasia cutis congenita
ORPHA:1116: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
ORPHA:1116: Bronspiegel-Zelnick syndrome
ORPHA:1117: Aplasia cutis-myopia syndrome
ORPHA:1117: Gershoni-Baruch-Leibo syndrome
ORPHA:1118: Fibular aplasia-ectrodactyly syndrome
ORPHA:112: Bartter syndrome
ORPHA:112: Renal tubular normotensive hypokalemic alkalosis with hypercalciuria
ORPHA:112: Salt-losing tubular disorder, Henle's loop type
ORPHA:112: Salt-wasting tubulopathy, Henle's loop type
ORPHA:1120: Lung agenesis-heart defect-thumb anomalies syndrome
ORPHA:1120: Mardini-Nyhan syndrome
ORPHA:1121: Radial deficiency-tibial hypoplasia syndrome
ORPHA:1122: Ulnar hypoplasia-split foot syndrome
ORPHA:1122: Ulnar hypoplasia-lobster-claw deformity of feet syndrome
ORPHA:1122: Van den Berghe-Dequecker syndrome
ORPHA:1123: Caudal appendage-deafness syndrome
ORPHA:1123: Caudal appendage-hearing loss syndrome
ORPHA:1123: Lynch-Lee-Murday syndrome
ORPHA:1125: Ocular motor apraxia, Cogan type
ORPHA:1125: Oculomotor apraxia, Cogan type
ORPHA:1126: Aprosencephaly cerebellar dysgenesis
ORPHA:1129: Arachnodactyly-abnormal ossification-intellectual disability syndrome
ORPHA:1129: Kosztolanyi syndrome
ORPHA:113: Bazex-Dupré-Christol syndrome
ORPHA:113: BDCS
ORPHA:113: Follicular atrophoderma and basal cell carcinomas
ORPHA:1130: Arachnodactyly-intellectual disability-dysmorphism syndrome
ORPHA:1130: De Die-Smulders-Vles-Fryns syndrome
ORPHA:1131: X-linked mandibulofacial dysostosis
ORPHA:1131: Mandibulofacial dysostosis, Toriello type
ORPHA:1131: X-linked branchial arch syndrome
ORPHA:1131: X-linked mandibulofacial dysostosis with limb anomalies
ORPHA:1132: Aortic arch defects
ORPHA:1133: AREDYLD syndrome
ORPHA:1133: Acrorenal defect-ectodermal dysplasia-diabetes syndrome
ORPHA:1134: Isolated arrhinia
ORPHA:1134: Isolated nose agenesis
ORPHA:1138: Abnormal origin of the pulmonary artery
ORPHA:114: Auriculoosteodysplasia
ORPHA:1143: Neurogenic arthrogryposis multiplex congenita
ORPHA:1144: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
ORPHA:1144: Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome
ORPHA:1144: Distal arthrogryposis type 6
ORPHA:1145: Infantile-onset X-linked spinal muscular atrophy
ORPHA:1145: SMAX2
ORPHA:1145: Spinal muscular atrophy with arthrogryposis
ORPHA:1145: X-linked distal arthrogryposis multiplex congenita
ORPHA:1145: X-linked spinal muscular atrophy type 2
ORPHA:1146: Distal arthrogryposis type 1
ORPHA:1146: DA1
ORPHA:1146: Digitotalar dysmorphism
ORPHA:1147: Sheldon-Hall syndrome
ORPHA:1147: DA2B
ORPHA:1147: Distal arthrogryposis multiplex congenita type 2B
ORPHA:1147: Distal arthrogryposis type 2B
ORPHA:1147: Freeman-Sheldon syndrome variant
ORPHA:1147: SSH
ORPHA:1149: Kuskokwim syndrome
ORPHA:1149: Arthrogryposis-like syndrome
ORPHA:1149: Kuskokwim disease
ORPHA:115: Congenital contractural arachnodactyly
ORPHA:115: Beals syndrome
ORPHA:115: Beals-Hecht syndrome
ORPHA:115: CCA syndrome
ORPHA:115: Distal arthrogryposis type 9
ORPHA:1150: Arthrogryposis multiplex congenita-whistling face syndrome
ORPHA:1150: Illum syndrome
ORPHA:1154: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
ORPHA:1154: Distal arthrogryposis type 5
ORPHA:1154: Distal arthrogryposis type IIB
ORPHA:1154: Distal arthrogryposis with ophthalmoplegia
ORPHA:1154: Oculomelic amyoplasia
ORPHA:1159: Progressive pseudorheumatoid dysplasia
ORPHA:1159: PPD
ORPHA:1159: Progressive pseudorheumatoid arthropathy of childhood
ORPHA:1159: Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
ORPHA:116: Beckwith-Wiedemann syndrome
ORPHA:116: BWS
ORPHA:116: Exomphalos-macroglossia-gigantism syndrome
ORPHA:116: Wiedemann-Beckwith syndrome
ORPHA:1160: Chylous ascites
ORPHA:1163: Aspergillosis
ORPHA:1164: Allergic bronchopulmonary aspergillosis
ORPHA:1164: ABPA
ORPHA:1164: Allergic aspergillosis
ORPHA:1164: Hinson-Pepys disease
ORPHA:1166: Congenital unilateral hypoplasia of depressor anguli oris
ORPHA:1166: Isolated asymmetric crying facies
ORPHA:1168: Ataxia-oculomotor apraxia type 1
ORPHA:1168: AOA1
ORPHA:117: Behçet disease
ORPHA:1170: Autosomal recessive cerebelloparenchymal disorder type 3
ORPHA:1170: Autosomal recessive spinocerebellar ataxia type 2
ORPHA:1170: SCAR2
ORPHA:1171: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
ORPHA:1171: CAPOS syndrome
ORPHA:1171: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome
ORPHA:1172: Autosomal recessive cerebellar ataxia
ORPHA:1172: ARCA
ORPHA:1173: Cerebellar ataxia-hypogonadism syndrome
ORPHA:1173: Gordon-Holmes syndrome
ORPHA:1173: Luteinizing hormone-releasing hormone deficiency with ataxia
ORPHA:1174: Cerebellar ataxia-ectodermal dysplasia syndrome
ORPHA:1175: X-linked progressive cerebellar ataxia
ORPHA:117569: Rare intestinal disease
ORPHA:117573: Syndromic anorectal malformation
ORPHA:1177: Early-onset cerebellar ataxia with retained tendon reflexes
ORPHA:1177: EOCA
ORPHA:1177: EOCARR
ORPHA:1177: Harding ataxia
ORPHA:1178: Ataxia-tapetoretinal degeneration syndrome
ORPHA:1179: Benign paroxysmal tonic upgaze of childhood with ataxia
ORPHA:1179: Ouvrier-Billson syndrome
ORPHA:118: Beta-mannosidosis
ORPHA:118: Beta-mannosidase deficiency
ORPHA:1180: Ataxia-hypogonadism-choroidal dystrophy syndrome
ORPHA:1180: Boucher-Neuhäuser syndrome
ORPHA:1182: Spastic ataxia with congenital miosis
ORPHA:1182: Autosomal dominant spastic ataxia type 7
ORPHA:1182: SPAX7
ORPHA:1183: Opsoclonus-myoclonus syndrome
ORPHA:1183: Ataxo-opso-myoclonus syndrome
ORPHA:1183: Dancing eye syndrome
ORPHA:1183: Dancing eye-dancing feet syndrome
ORPHA:1183: Kinsbourne syndrome
ORPHA:1183: OMA syndrome
ORPHA:1183: OMS
ORPHA:1183: Opsoclonus-myoclonus-ataxia syndrome
ORPHA:1183: POMA syndrome
ORPHA:1183: Paraneoplastic opsoclonus-myoclonus
ORPHA:1183: Paraneoplastic opsoclonus-myoclonus-ataxia syndrome
ORPHA:1184: Ataxia-photosensitivity-short stature syndrome
ORPHA:1184: Fenton-Wilkinson-Toselano syndrome
ORPHA:1185: Spinocerebellar ataxia-dysmorphism syndrome
ORPHA:1186: Infantile-onset spinocerebellar ataxia
ORPHA:1186: IOSCA
ORPHA:1186: Ohaha syndrome
ORPHA:1186: Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
ORPHA:1187: Lethal ataxia with deafness and optic atrophy
ORPHA:1187: Arts syndrome
ORPHA:1187: Lethal ataxia with hearing loss and optic atrophy
ORPHA:1188: Ataxia-deafness-intellectual disability syndrome
ORPHA:1188: Ataxia-hearing loss-intellectual disability syndrome
ORPHA:1188: Reardon-Baraitser syndrome
ORPHA:119: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
ORPHA:119: Autosomal recessive limb-girdle muscular dystrophy type 2E
ORPHA:119: Beta-sarcoglycan-related LGMD R4
ORPHA:119: Beta-sarcoglycanopathy
ORPHA:119: LGMD due to beta-sarcoglycan deficiency
ORPHA:119: LGMD type 2E
ORPHA:119: LGMD2E
ORPHA:119: Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
ORPHA:119: Limb-girdle muscular dystrophy type 2E
ORPHA:1190: Atelosteogenesis type I
ORPHA:1190: AO1
ORPHA:1190: AOI
ORPHA:1190: Atelosteogenesis type 1
ORPHA:1190: Giant cell chondrodysplasia
ORPHA:1190: Spondylo-humero-femoral dysplasia
ORPHA:1192: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
ORPHA:1192: Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome
ORPHA:1192: Feigenbaum-Bergeron-Richardson syndrome
ORPHA:1193: Atkin-Flaitz syndrome
ORPHA:1193: X-linked intellectual disability, Atkin type
ORPHA:1194: TMEM70-related mitochondrial encephalo-cardio-myopathy
ORPHA:1194: Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
ORPHA:1194: Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
ORPHA:1194: Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
ORPHA:1195: Congenital atransferrinemia
ORPHA:1195: Congenital hypotransferrinemia
ORPHA:1198: Colonic atresia
ORPHA:1199: Esophageal atresia
ORPHA:1199: CEA
ORPHA:1199: Congenital esophageal atresia
ORPHA:1199: EA/TEF
ORPHA:1199: Esophageal atresia with or without trachea-esophageal fistula
ORPHA:1199: Oesophageal atresia
ORPHA:1200: Burn-McKeown syndrome
ORPHA:1200: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
ORPHA:1201: Small bowel atresia
ORPHA:1201: Atresia of small bowel
ORPHA:1201: Atresia of small intestine
ORPHA:1201: Jejunal atresia
ORPHA:1201: Jejunoileal atresia
ORPHA:1201: SBA
ORPHA:1201: Small intestinal atresia
ORPHA:1202: Larynx atresia
ORPHA:1203: Duodenal atresia
ORPHA:1205: Mitral atresia
ORPHA:1207: Pulmonary atresia with ventricular septal defect
ORPHA:1208: Pulmonary atresia-intact ventricular septum syndrome
ORPHA:1209: Tricuspid atresia
ORPHA:1214: Progressive hemifacial atrophy
ORPHA:1214: Hemifacial atrophy
ORPHA:1214: PHA
ORPHA:1214: Parry-Romberg syndrome
ORPHA:1214: Progressive facial hemiatrophy
ORPHA:1214: Romberg syndrome
ORPHA:1215: Autosomal dominant optic atrophy plus syndrome
ORPHA:1215: ADOA+
ORPHA:1215: DOA+
ORPHA:1215: Optic atrophy-deafness-polyneuropathy-myopathy syndrome
ORPHA:1215: Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
ORPHA:1216: Autosomal dominant congenital benign spinal muscular atrophy
ORPHA:1216: Autosomal dominant benign distal spinal muscular atrophy
ORPHA:1216: Congenital benign spinal muscular atrophy with contractures
ORPHA:1216: Congenital nonprogressive spinal muscular atrophy
ORPHA:1217: Spinal atrophy-ophthalmoplegia-pyramidal syndrome
ORPHA:1217: Hamano-Tsukamoto syndrome
ORPHA:122: Birt-Hogg-Dubé syndrome
ORPHA:122: Hornstein-Knickenberg syndrome
ORPHA:1221: Cheilitis glandularis
ORPHA:1223: Balantidiasis
ORPHA:1223: Balantidiosis
ORPHA:1223: Ciliary dysentery
ORPHA:1225: Baller-Gerold syndrome
ORPHA:1226: Bamforth-Lazarus syndrome
ORPHA:1226: Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
ORPHA:1226: Bamforth syndrome
ORPHA:1226: Hypothyroidism-cleft palate syndrome
ORPHA:1227: Bangstad syndrome
ORPHA:1227: Ataxia-diabetes-goiter-gonadal insufficiency syndrome
ORPHA:1228: Banki syndrome
ORPHA:1229: Congenital intrauterine infection-like syndrome
ORPHA:1229: BLC-PMG
ORPHA:1229: Baraitser-Brett-Piesowicz syndrome
ORPHA:1229: Baraitser-Reardon syndrome
ORPHA:1229: Bilateral band-like calcification with polymicrogyria
ORPHA:1229: Microcephaly-intracranial calcification-intellectual disability syndrome
ORPHA:1229: Pseudo-TORCH syndrome
ORPHA:123: Björnstad syndrome
ORPHA:123: Deafness-pili torti-hypogonadism syndrome
ORPHA:123: Hearing loss-pili torti-hypogonadism syndrome
ORPHA:1231: Barber-Say syndrome
ORPHA:1231: Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome
ORPHA:1234: Bartsocas-Papas syndrome
ORPHA:1234: Autosomal recessive popliteal pterygium syndrome
ORPHA:1234: Lethal popliteal pterygium syndrome
ORPHA:1236: Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
ORPHA:1237: Beemer-Ertbruggen syndrome
ORPHA:1237: Lethal hydrocephalus-cardiac malformation-dense bones syndrome
ORPHA:1239: Behr syndrome
ORPHA:124: Diamond-Blackfan anemia
ORPHA:124: Congenital PRCA
ORPHA:124: Congenital pure red cell aplasia
ORPHA:124: Diamond-Blackfan anemia syndrome
ORPHA:1241: Bencze syndrome
ORPHA:1241: Hemifacial hyperplasia-strabismus syndrome
ORPHA:1243: Best vitelliform macular dystrophy
ORPHA:1243: BMD
ORPHA:1243: BVMD
ORPHA:1243: Best disease
ORPHA:1243: Best macular dystrophy
ORPHA:1243: Early-onset vitelliform macular dystrophy
ORPHA:1243: Juvenile-onset vitelliform macular dystrophy
ORPHA:1243: Polymorphic vitelline macular degeneration
ORPHA:1243: Vitelliform macular dystrophy type 2
ORPHA:1246: Brachydactyly-nystagmus-cerebellar ataxia syndrome
ORPHA:1246: Biemond syndrome
ORPHA:1247: Schistosomiasis
ORPHA:1247: Bilharziasis
ORPHA:1248: Maxillonasal dysplasia
ORPHA:1248: Binder syndrome
ORPHA:1248: Maxillonasal dysostosis
ORPHA:125: Bloom syndrome
ORPHA:125: BSyn
ORPHA:1252: Blepharonasofacial malformation syndrome
ORPHA:1252: Pashayan syndrome
ORPHA:1252: Pashayan-Pruzansky syndrome
ORPHA:1253: Ascher syndrome
ORPHA:1253: Blepharochalasis-double lip syndrome
ORPHA:1259: Blepharoptosis-myopia-ectopia lentis syndrome
ORPHA:126: Blepharophimosis-ptosis-epicanthus inversus syndrome
ORPHA:126: BPES
ORPHA:1261: Bonnemann-Meinecke-Reich syndrome
ORPHA:1261: Encephalopathy-intracerebral calcification-retinal degeneration syndrome
ORPHA:1262: Böök syndrome
ORPHA:1263: Boomerang dysplasia
ORPHA:1264: Tricho-retino-dento-digital syndrome
ORPHA:1264: Bork syndrome
ORPHA:1264: Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome
ORPHA:1267: Botulism
ORPHA:127: Borjeson-Forssman-Lehmann syndrome
ORPHA:127: BFLS
ORPHA:127: Intellectual disability-epilepsy-endocrine disorders syndrome
ORPHA:1270: Bowen-Conradi syndrome
ORPHA:1270: Bowen syndrome, Hutterite type
ORPHA:1272: Aymé-Gripp syndrome
ORPHA:1272: Brachycephaly-deafness-cataract-intellectual disability syndrome
ORPHA:1272: Brachycephaly-hearing loss-cataract-intellectual disability syndrome
ORPHA:1272: Fine-Lubinsky syndrome
ORPHA:1275: Brachydactyly-elbow wrist dysplasia syndrome
ORPHA:1275: Brachydactyly-joint dysplasia syndrome
ORPHA:1275: Liebenberg syndrome
ORPHA:1276: Brachydactyly-arterial hypertension syndrome
ORPHA:1276: Bilginturan brachydactyly
ORPHA:1276: Bilginturan syndrome
ORPHA:1276: Brachydactyly type E, with short stature and hypertension
ORPHA:1277: Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
ORPHA:1277: Stratton-Garcia-Young syndrome
ORPHA:1278: Brachydactyly-preaxial hallux varus syndrome
ORPHA:128: Diphyllobothriasis
ORPHA:128: Bothriocephalosis
ORPHA:129: Pseudopelade of Brocq
ORPHA:1292: Brachymorphism-onychodysplasia-dysphalangism syndrome
ORPHA:1292: BOD syndrome
ORPHA:1292: Senior syndrome
ORPHA:1293: Brachyolmia
ORPHA:1295: Brachytelephalangy-dysmorphism-Kallmann syndrome
ORPHA:1296: Lambert syndrome
ORPHA:1296: Branchial dysplasia-intellectual disability-inguinal hernia syndrome
ORPHA:1297: Branchio-oculo-facial syndrome
ORPHA:1297: BOFS
ORPHA:1299: Branchioskeletogenital syndrome
ORPHA:1299: BSG syndrome
ORPHA:1299: Elsahy-Waters syndrome
ORPHA:13: 6-pyruvoyl-tetrahydropterin synthase deficiency
ORPHA:13: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
ORPHA:130: Brugada syndrome
ORPHA:130: Idiopathic ventricular fibrillation, Brugada type
ORPHA:1300: Autosomal dominant popliteal pterygium syndrome
ORPHA:1300: Facio-genito-popliteal syndrome
ORPHA:1300: Popliteal web syndrome
ORPHA:1302: Cryptogenic organizing pneumonia
ORPHA:1302: BOOP
ORPHA:1302: Bronchiolitis obliterans organizing pneumonia
ORPHA:1302: COP
ORPHA:1303: Bronchiolitis obliterans
ORPHA:1303: Constrictive bronchiolitis
ORPHA:1303: Obliterative bronchiolitis
ORPHA:1304: Brucellosis
ORPHA:1305: Feingold syndrome
ORPHA:1305: Brunner-Winter syndrome
ORPHA:1305: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
ORPHA:1305: FGLDS
ORPHA:1305: FS
ORPHA:1305: MMT
ORPHA:1305: MODED syndrome
ORPHA:1305: Microcephaly-digital anomalies-normal intelligence syndrome
ORPHA:1305: Microcephaly-intellectual disability-tracheoesophageal fistula syndrome
ORPHA:1305: Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome
ORPHA:1305: ODED syndrome
ORPHA:1305: Oculo-digito-esophageal-duodenal syndrome
ORPHA:1307: Distal limb deficiencies-micrognathia syndrome
ORPHA:1307: 10q24 microduplication syndrome
ORPHA:1307: Buttiens-Fryns syndrome
ORPHA:1308: C syndrome
ORPHA:1308: OTCS
ORPHA:1308: Opitz C trigonocephaly
ORPHA:1308: Opitz trigonocephaly C syndrome
ORPHA:1308: Opitz trigonocephaly syndrome
ORPHA:1308: Trigonocephaly C syndrome
ORPHA:1309: Medullary sponge kidney
ORPHA:1309: Cacchi-Ricci disease
ORPHA:1309: MSK
ORPHA:1309: Precalicial canalicular ectasia
ORPHA:131: Budd-Chiari syndrome
ORPHA:131: BCS
ORPHA:1310: Caffey disease
ORPHA:1310: Infantile cortical hyperostosis
ORPHA:1313: Infantile choroidocerebral calcification syndrome
ORPHA:1314: Symmetrical thalamic calcifications
ORPHA:1314: Bilateral symmetrical thalamic gliosis
ORPHA:1318: Campomelia, Cumming type
ORPHA:1318: Cumming syndrome
ORPHA:1319: Camptobrachydactyly
ORPHA:132: Hereditary butyrylcholinesterase deficiency
ORPHA:132: Hereditary pseudocholinesterase deficiency
ORPHA:1320: Idiopathic camptocormia
ORPHA:1320: Idiopathic camptocormism
ORPHA:1320: Idiopathic progressive lumbar kyphosis
ORPHA:1321: Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
ORPHA:1321: Goodman camptodactyly
ORPHA:1323: Camptodactyly-joint contractures-facial skeletal defects syndrome
ORPHA:1323: Rozin camptodactyly syndrome
ORPHA:1325: Camptodactyly-taurinuria syndrome
ORPHA:1325: Familial streblodactyly with amino-aciduria
ORPHA:1326: Camptodactyly syndrome, Guadalajara type 2
ORPHA:1327: Camptodactyly syndrome, Guadalajara type 1
ORPHA:1328: Camurati-Engelmann disease
ORPHA:1328: Progressive diaphyseal dysplasia
ORPHA:1329: Complete atrioventricular septal defect
ORPHA:1329: CAVC
ORPHA:1329: Complete AVSD
ORPHA:1329: Complete atrioventricular canal
ORPHA:1329: Complete atrioventricular canal defect
ORPHA:1329: Complete atrioventricular septal defect with atrial and ventricular components
ORPHA:133: Chronic beryllium disease
ORPHA:133: Berylliosis
ORPHA:133: Chronic berylliosis
ORPHA:133: Chronic beryllium lung disease
ORPHA:1330: Partial atrioventricular septal defect
ORPHA:1330: PAVC
ORPHA:1330: Partial AVSD
ORPHA:1330: Partial atrioventricular canal defect
ORPHA:1331: Familial prostate cancer
ORPHA:1332: Medullary thyroid carcinoma
ORPHA:1332: MTC
ORPHA:1333: Familial pancreatic carcinoma
ORPHA:1333: Familial pancreatic cancer
ORPHA:1334: Chronic mucocutaneous candidiasis
ORPHA:1334: CMC
ORPHA:1335: Pentalogy of Cantrell
ORPHA:1335: Cantrell deformity
ORPHA:1335: Cantrell syndrome
ORPHA:1335: Thoraco-abdominal syndrome
ORPHA:1336: Hyperkeratosis-hyperpigmentation syndrome
ORPHA:1338: Heart defect-tongue hamartoma-polysyndactyly syndrome
ORPHA:1338: Ostravik-Lindemann-Solberg syndrome
ORPHA:134: Beta-ketothiolase deficiency
ORPHA:134: 3-ketothiolase deficiency
ORPHA:134: 3-oxothiolase deficiency
ORPHA:134: Alpha methylacetoacetic aciduria
ORPHA:134: Alpha-methyl-acetoacetyl-CoA thiolase deficiency
ORPHA:134: Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
ORPHA:134: T2 deficiency
ORPHA:1340: Cardiofaciocutaneous syndrome
ORPHA:1340: CFC syndrome
ORPHA:1342: Heart-hand syndrome type 3
ORPHA:1342: Atriodigital dysplasia type 3
ORPHA:1342: Cardiomelic syndrome type 3
ORPHA:1342: Heart-hand syndrome, Spanish type
ORPHA:1342: Heart-limb syndrome type 3
ORPHA:1344: Atrial standstill
ORPHA:1344: Atrial cardiomyopathy with heart block
ORPHA:1345: Cardiomyopathy-cataract-hip spine disease syndrome
ORPHA:1345: Krasnow-Qazi syndrome
ORPHA:1349: Mitochondrial DNA-related cardiomyopathy and hearing loss
ORPHA:1349: Maternally-inherited cardiomyopathy and deafness
ORPHA:1349: mtDNA-related cardiomyopathy and deafness
ORPHA:1349: mtDNA-related cardiomyopathy and hearing loss
ORPHA:1349: tRNA-LYS-related cardiomyopathy-hearing loss syndrome
ORPHA:135: CACH syndrome
ORPHA:135: Childhood ataxia with diffuse central nervous system hypomyelination
ORPHA:135: Leukoencephalopathy with vanishing white matter
ORPHA:135: Myelinosis centralis diffusa
ORPHA:1350: Heart-hand syndrome type 2
ORPHA:1350: Atriodigital dysplasia type 2
ORPHA:1350: Tabatznik syndrome
ORPHA:1352: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
ORPHA:1352: Houlston-Ironton-Temple syndrome
ORPHA:1354: Heart defects-limb shortening syndrome
ORPHA:1355: Congenital heart defect-round face-developmental delay syndrome