MyHealth@Eu Medical Imaging Report
0.0.1 - ci-build
150
MyHealth@Eu Medical Imaging Report - Local Development build (v0.0.1) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Official URL: http://fhir.ehdsi.eu/imaging/ValueSet/eHDSIRareDisease | Version: 0.0.1 | |||
| Standards status: Draft | Maturity Level: 1 | Computable Name: EHDSIRareDisease | ||
| Other Identifiers: OID:1.3.6.1.4.1.12559.11.10.1.3.1.42.63 | ||||
The Value Set is used to describe the problems and medication reasons.
References
urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.44.5| Code | Display |
| 10 | 48,XXYY syndrome |
| 100 | Ataxia-telangiectasia |
| 1000 | Ocular albinism with late-onset sensorineural deafness |
| 100000 | Reticular perineurioma |
| 100001 | Sclerosing perineurioma |
| 100002 | Extraneural perineurioma |
| 100003 | Intraneural perineurioma |
| 100006 | ABeta amyloidosis, Dutch type |
| 100008 | ACys amyloidosis |
| 100011 | Lissencephaly with cerebellar hypoplasia type A |
| 100012 | Lissencephaly with cerebellar hypoplasia type B |
| 100013 | Lissencephaly with cerebellar hypoplasia type C |
| 100014 | Lissencephaly with cerebellar hypoplasia type D |
| 100015 | Lissencephaly with cerebellar hypoplasia type E |
| 100016 | Lissencephaly with cerebellar hypoplasia type F |
| 100019 | Refractory anemia with excess blasts type 1 |
| 100020 | Refractory anemia with excess blasts type 2 |
| 100021 | Primary plasmacytoma of the bone |
| 100022 | Extramedullary soft tissue plasmacytoma |
| 100024 | Mu-heavy chain disease |
| 100025 | Alpha-heavy chain disease |
| 100026 | Gamma-heavy chain disease |
| 100031 | Hypoplastic amelogenesis imperfecta |
| 100032 | Hypocalcified amelogenesis imperfecta |
| 100033 | Hypomaturation amelogenesis imperfecta |
| 100034 | Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism |
| 100035 | Solitary necrotic nodule of the liver |
| 100043 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type A |
| 100044 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type B |
| 100045 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type C |
| 100046 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type D |
| 100047 | Esophageal duplication cyst |
| 100048 | Tubular duplication of the esophagus |
| 100050 | Hereditary angioedema type 1 |
| 100051 | Hereditary angioedema type 2 |
| 100054 | F12-related hereditary angioedema with normal C1Inh |
| 100055 | Acquired angioedema type 2 |
| 100056 | Acquired angioedema type 1 |
| 100057 | Renin-angiotensin-aldosterone system-blocker-induced angioedema |
| 100067 | Waterhouse-Friderichsen syndrome |
| 100069 | Semantic dementia |
| 100070 | Progressive non-fluent aphasia |
| 100071 | Mosaic trisomy 3 |
| 100073 | Neurogenic thoracic outlet syndrome |
| 100075 | Neuroendocrine tumor of stomach |
| 100078 | Ileal neuroendocrine tumor |
| 100079 | Neuroendocrine neoplasm of appendix |
| 100080 | Neuroendocrine tumor of the colon |
| 100081 | Neuroendocrine tumor of the rectum |
| 100082 | Neuroendocrine tumor of anal canal |
| 100083 | Laryngeal neuroendocrine tumor |
| 100084 | Middle ear neuroendocrine tumor |
| 100085 | Primary hepatic neuroendocrine carcinoma |
| 100086 | Gallbladder neuroendocrine tumor |
| 100093 | Carcinoid syndrome |
| 1001 | 2q37 microdeletion syndrome |
| 1003 | Scalp defects-postaxial polydactyly syndrome |
| 1005 | Alopecia-contractures-dwarfism-intellectual disability syndrome |
| 1006 | Alopecia antibody deficiency |
| 1008 | Alopecia-epilepsy-pyorrhea-intellectual disability syndrome |
| 100924 | Porphyria due to ALA dehydratase deficiency |
| 100973 | FRAXE intellectual disability |
| 100974 | FRAXF syndrome |
| 100976 | Bathing suit ichthyosis |
| 100978 | Cloverleaf skull-asphyxiating thoracic dysplasia syndrome |
| 100984 | Autosomal dominant spastic paraplegia type 3 |
| 100985 | Autosomal dominant spastic paraplegia type 4 |
| 100986 | Autosomal recessive spastic paraplegia type 5A |
| 100988 | Autosomal dominant spastic paraplegia type 6 |
| 100989 | Autosomal dominant spastic paraplegia type 8 |
| 100991 | Autosomal dominant spastic paraplegia type 10 |
| 100993 | Autosomal dominant spastic paraplegia type 12 |
| 100994 | Autosomal dominant spastic paraplegia type 13 |
| 100995 | Autosomal recessive spastic paraplegia type 14 |
| 100996 | Autosomal recessive spastic paraplegia type 15 |
| 100997 | X-linked spastic paraplegia type 16 |
| 100998 | Autosomal dominant spastic paraplegia type 17 |
| 100999 | Autosomal dominant spastic paraplegia type 19 |
| 101 | Dentatorubral pallidoluysian atrophy |
| 1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia |
| 101000 | Autosomal recessive spastic paraplegia type 20 |
| 101001 | Autosomal recessive spastic paraplegia type 21 |
| 101003 | Autosomal recessive spastic paraplegia type 23 |
| 101004 | Autosomal recessive spastic paraplegia type 24 |
| 101005 | Autosomal recessive spastic paraplegia type 25 |
| 101006 | Autosomal recessive spastic paraplegia type 26 |
| 101007 | Autosomal recessive spastic paraplegia type 27 |
| 101008 | Autosomal recessive spastic paraplegia type 28 |
| 101009 | Autosomal dominant spastic paraplegia type 29 |
| 101010 | Autosomal spastic paraplegia type 30 |
| 101011 | Autosomal dominant spastic paraplegia type 31 |
| 101016 | Romano-Ward syndrome |
| 101023 | Cleft hard palate |
| 101028 | Transaldolase deficiency |
| 101029 | Sub-cortical nodular heterotopia |
| 101030 | Subependymal nodular heterotopia |
| 101039 | Female restricted epilepsy with intellectual disability |
| 101041 | Familial hypofibrinogenemia |
| 101043 | Congenital aortic valve dysplasia |
| 101046 | Autosomal dominant epilepsy with auditory features |
| 101049 | Familial hypocalciuric hypercalcemia type 2 |
| 101050 | Familial hypocalciuric hypercalcemia type 3 |
| 101063 | Situs inversus totalis |
| 101068 | Congenital stromal corneal dystrophy |
| 101070 | Bilateral frontoparietal polymicrogyria |
| 101071 | Unilateral hemispheric polymicrogyria |
| 101075 | X-linked Charcot-Marie-Tooth disease type 1 |
| 101076 | X-linked Charcot-Marie-Tooth disease type 2 |
| 101077 | X-linked Charcot-Marie-Tooth disease type 3 |
| 101078 | X-linked Charcot-Marie-Tooth disease type 4 |
| 101081 | Charcot-Marie-Tooth disease type 1A |
| 101082 | Charcot-Marie-Tooth disease type 1B |
| 101083 | Charcot-Marie-Tooth disease type 1C |
| 101084 | Charcot-Marie-Tooth disease type 1D |
| 101085 | Charcot-Marie-Tooth disease type 1F |
| 101088 | X-linked hyper-IgM syndrome |
| 101089 | Hyper-IgM syndrome type 2 |
| 101090 | Hyper-IgM syndrome type 3 |
| 101091 | Hyper-IgM syndrome type 4 |
| 101092 | Hyper-IgM syndrome type 5 |
| 101096 | Aregenerative anemia |
| 101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness |
| 101101 | Charcot-Marie-Tooth disease type 2B2 |
| 101102 | Charcot-Marie-Tooth disease type 2H |
| 101104 | Marin-Amat syndrome |
| 101108 | Spinocerebellar ataxia type 23 |
| 101109 | Spinocerebellar ataxia type 28 |
| 101110 | Spinocerebellar ataxia type 20 |
| 101111 | Spinocerebellar ataxia type 25 |
| 101112 | Spinocerebellar ataxia type 26 |
| 101150 | Autosomal recessive dopa-responsive dystonia |
| 101206 | Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome |
| 101330 | Porphyria cutanea tarda |
| 101334 | African tick typhus |
| 101351 | Familial isolated congenital asplenia |
| 1014 | Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome |
| 101685 | Rare non-syndromic intellectual disability |
| 1018 | X-linked Alport syndrome-diffuse leiomyomatosis |
| 101932 | Anomaly of the mitral subvalvular apparatus |
| 102 | Multiple system atrophy |
| 1020 | Early-onset autosomal dominant Alzheimer disease |
| 1021 | Amaurosis-hypertrichosis syndrome |
| 1023 | Congenital generalized hypertrichosis, Ambras type |
| 102379 | Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent |
| 102381 | Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor |
| 1027 | Autosomal recessive amelia |
| 102724 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation |
| 1028 | Amelo-onycho-hypohidrotic syndrome |
| 1031 | Enamel-renal syndrome |
| 1035 | Beta-mercaptolactate cysteine disulfiduria |
| 103907 | Chronic diarrhea due to glucoamylase deficiency |
| 103908 | Congenital sodium diarrhea |
| 103909 | Trehalase deficiency |
| 103910 | Congenital enterocyte heparan sulfate deficiency |
| 103918 | Tropical pancreatitis |
| 103920 | Undetermined colitis |
| 104 | Leber hereditary optic neuropathy |
| 1040 | Metaphyseal anadysplasia |
| 104075 | Adenocarcinoma of the small intestine |
| 104076 | Leiomyosarcoma of small intestine |
| 104077 | Myopathic intestinal pseudoobstruction |
| 104078 | Unclassified intestinal pseudoobstruction |
| 1041 | Hydrops fetalis |
| 1046 | Lethal hemolytic anemia-genital anomalies syndrome |
| 1048 | Isolated anencephaly/exencephaly |
| 105 | Atresia of urethra |
| 1051 | Ramos-Arroyo syndrome |
| 1052 | Mosaic variegated aneuploidy syndrome |
| 1053 | Vein of Galen aneurysmal malformation |
| 1054 | Aneurysm of sinus of Valsalva |
| 1055 | Congenital left ventricular aneurysm |
| 1059 | Blue rubber bleb nevus |
| 1062 | Hereditary neurocutaneous malformation |
| 1063 | Tufted angioma |
| 1064 | Aniridia-renal agenesis-psychomotor retardation syndrome |
| 1065 | Aniridia-cerebellar ataxia-intellectual disability syndrome |
| 1067 | Aniridia-ptosis-intellectual disability-familial obesity syndrome |
| 1068 | Aniridia-intellectual disability syndrome |
| 1069 | Aniridia-absent patella syndrome |
| 107 | BOR syndrome |
| 1070 | Anisakiasis |
| 1071 | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
| 1072 | Ankyloblepharon filiforme adnatum-cleft palate syndrome |
| 1074 | Ankyloblepharon filiforme adnatum-imperforate anus syndrome |
| 1077 | Dental ankylosis |
| 1078 | Thumb stiffness-brachydactyly-intellectual disability syndrome |
| 108 | Babesiosis |
| 1083 | Microlissencephaly |
| 1084 | Isolated lissencephaly type 1 without known genetic defects |
| 109 | Bannayan-Riley-Ruvalcaba syndrome |
| 1094 | Anonychia-microcephaly syndrome |
| 11 | Pentasomy X |
| 110 | Bardet-Biedl syndrome |
| 1101 | Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome |
| 1104 | Anophthalmia plus syndrome |
| 1106 | Microphthalmia with limb anomalies |
| 111 | Barth syndrome |
| 1110 | Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome |
| 1112 | Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome |
| 1113 | Aphalangy-syndactyly-microcephaly syndrome |
| 1114 | Aplasia cutis congenita |
| 1116 | Aplasia cutis congenita-intestinal lymphangiectasia syndrome |
| 1117 | Aplasia cutis-myopia syndrome |
| 1118 | Fibular aplasia-ectrodactyly syndrome |
| 112 | Bartter syndrome |
| 1120 | Lung agenesis-heart defect-thumb anomalies syndrome |
| 1121 | Radial deficiency-tibial hypoplasia syndrome |
| 1122 | Ulnar hypoplasia-split foot syndrome |
| 1123 | Caudal appendage-deafness syndrome |
| 1125 | Ocular motor apraxia, Cogan type |
| 1126 | Aprosencephaly cerebellar dysgenesis |
| 1129 | Arachnodactyly-abnormal ossification-intellectual disability syndrome |
| 113 | Bazex-Dupré-Christol syndrome |
| 1130 | Arachnodactyly-intellectual disability-dysmorphism syndrome |
| 1131 | X-linked mandibulofacial dysostosis |
| 1133 | AREDYLD syndrome |
| 1134 | Isolated arrhinia |
| 1135 | Arrhinia-choanal atresia-microphthalmia syndrome |
| 114 | Auriculoosteodysplasia |
| 1143 | Neurogenic arthrogryposis multiplex congenita |
| 1144 | Arthrogryposis-like hand anomaly-sensorineural deafness syndrome |
| 1145 | Infantile-onset X-linked spinal muscular atrophy |
| 1146 | Distal arthrogryposis type 1 |
| 1147 | Sheldon-Hall syndrome |
| 1149 | Kuskokwim syndrome |
| 115 | Congenital contractural arachnodactyly |
| 1150 | Arthrogryposis multiplex congenita-whistling face syndrome |
| 1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome |
| 1159 | Progressive pseudorheumatoid arthropathy of childhood |
| 116 | Beckwith-Wiedemann syndrome |
| 1160 | Chylous ascites |
| 1163 | Aspergillosis |
| 1164 | Allergic bronchopulmonary aspergillosis |
| 1166 | Congenital unilateral hypoplasia of depressor anguli oris |
| 1168 | Ataxia-oculomotor apraxia type 1 |
| 117 | Behçet disease |
| 1170 | Autosomal recessive cerebelloparenchymal disorder type 3 |
| 1171 | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome |
| 1173 | Cerebellar ataxia-hypogonadism syndrome |
| 1174 | Cerebellar ataxia-ectodermal dysplasia syndrome |
| 1175 | X-linked progressive cerebellar ataxia |
| 1177 | Early-onset cerebellar ataxia with retained tendon reflexes |
| 1178 | Ataxia-tapetoretinal degeneration syndrome |
| 1179 | Benign paroxysmal tonic upgaze of childhood with ataxia |
| 118 | Beta-mannosidosis |
| 1180 | Ataxia-hypogonadism-choroidal dystrophy syndrome |
| 1182 | Spastic ataxia with congenital miosis |
| 1183 | Opsoclonus-myoclonus syndrome |
| 1184 | Ataxia-photosensitivity-short stature syndrome |
| 1185 | Spinocerebellar ataxia-dysmorphism syndrome |
| 1186 | Infantile-onset spinocerebellar ataxia |
| 1187 | Lethal ataxia with deafness and optic atrophy |
| 1188 | Ataxia-deafness-intellectual disability syndrome |
| 119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 |
| 1190 | Atelosteogenesis type I |
| 1192 | Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome |
| 1193 | Atkin-Flaitz syndrome |
| 1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy |
| 1195 | Congenital atransferrinemia |
| 1198 | Colonic atresia |
| 1199 | Esophageal atresia |
| 1200 | Burn-McKeown syndrome |
| 1201 | Small bowel atresia |
| 1202 | Larynx atresia |
| 1203 | Duodenal atresia |
| 1205 | Mitral atresia |
| 1207 | Pulmonary atresia with ventricular septal defect |
| 1208 | Pulmonary atresia-intact ventricular septum syndrome |
| 1209 | Tricuspid atresia |
| 1214 | Progressive hemifacial atrophy |
| 1215 | Autosomal dominant optic atrophy plus syndrome |
| 1216 | Autosomal dominant congenital benign spinal muscular atrophy |
| 1217 | Spinal atrophy-ophthalmoplegia-pyramidal syndrome |
| 122 | Birt-Hogg-Dubé syndrome |
| 1221 | Cheilitis glandularis |
| 1223 | Balantidiasis |
| 1225 | Baller-Gerold syndrome |
| 1226 | Bamforth-Lazarus syndrome |
| 1227 | Bangstad syndrome |
| 1228 | Banki syndrome |
| 1229 | Congenital intrauterine infection-like syndrome |
| 123 | Björnstad syndrome |
| 1231 | Barber-Say syndrome |
| 1234 | Bartsocas-Papas syndrome |
| 1236 | Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome |
| 1237 | Beemer-Ertbruggen syndrome |
| 124 | Diamond-Blackfan anemia |
| 1240 | Metaphyseal acroscyphodysplasia |
| 1241 | Bencze syndrome |
| 1243 | Best vitelliform macular dystrophy |
| 1246 | Brachydactyly-nystagmus-cerebellar ataxia syndrome |
| 1247 | Schistosomiasis |
| 1248 | Maxillonasal dysplasia |
| 125 | Bloom syndrome |
| 1252 | Blepharonasofacial malformation syndrome |
| 1253 | Ascher syndrome |
| 1259 | Blepharoptosis-myopia-ectopia lentis syndrome |
| 126 | Blepharophimosis-ptosis-epicanthus inversus syndrome |
| 1261 | Bonnemann-Meinecke-Reich syndrome |
| 1262 | Böök syndrome |
| 1263 | Boomerang dysplasia |
| 1264 | Tricho-retino-dento-digital syndrome |
| 1267 | Botulism |
| 127 | Borjeson-Forssman-Lehmann syndrome |
| 1270 | Bowen-Conradi syndrome |
| 1272 | Aymé-Gripp syndrome |
| 1275 | Brachydactyly-elbow wrist dysplasia syndrome |
| 1276 | Brachydactyly-arterial hypertension syndrome |
| 1277 | Brachydactyly-mesomelia-intellectual disability-heart defects syndrome |
| 1278 | Brachydactyly-preaxial hallux varus syndrome |
| 128 | Diphyllobothriasis |
| 129 | Pseudopelade of Brocq |
| 1292 | Brachymorphism-onychodysplasia-dysphalangism syndrome |
| 1295 | Brachytelephalangy-dysmorphism-Kallmann syndrome |
| 1296 | Lambert syndrome |
| 1297 | Branchio-oculo-facial syndrome |
| 1299 | Branchioskeletogenital syndrome |
| 13 | 6-pyruvoyl-tetrahydropterin synthase deficiency |
| 130 | Brugada syndrome |
| 1300 | Autosomal dominant popliteal pterygium syndrome |
| 1302 | Cryptogenic organizing pneumonia |
| 1303 | Bronchiolitis obliterans with obstructive pulmonary disease |
| 1304 | Brucellosis |
| 1305 | Feingold syndrome |
| 1307 | Distal limb deficiencies-micrognathia syndrome |
| 1308 | C syndrome |
| 1309 | Medullary sponge kidney |
| 131 | Budd-Chiari syndrome |
| 1310 | Caffey disease |
| 1313 | Infantile choroidocerebral calcification syndrome |
| 1314 | Symmetrical thalamic calcifications |
| 1318 | Campomelia, Cumming type |
| 1319 | Camptobrachydactyly |
| 132 | Butyrylcholinesterase deficiency |
| 1320 | Idiopathic camptocormia |
| 1321 | Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome |
| 1323 | Camptodactyly-joint contractures-facial skeletal defects syndrome |
| 1325 | Camptodactyly-taurinuria syndrome |
| 1326 | Camptodactyly syndrome, Guadalajara type 2 |
| 1327 | Camptodactyly syndrome, Guadalajara type 1 |
| 1328 | Camurati-Engelmann disease |
| 1329 | Complete atrioventricular septal defect |
| 133 | Chronic beryllium disease |
| 1330 | Partial atrioventricular septal defect |
| 1331 | Familial prostate cancer |
| 1332 | Medullary thyroid carcinoma |
| 1333 | Familial pancreatic carcinoma |
| 1334 | Chronic mucocutaneous candidiasis |
| 1335 | Pentalogy of Cantrell |
| 1336 | Hyperkeratosis-hyperpigmentation syndrome |
| 1338 | Heart defect-tongue hamartoma-polysyndactyly syndrome |
| 134 | Beta-ketothiolase deficiency |
| 1340 | Cardiofaciocutaneous syndrome |
| 1342 | Heart-hand syndrome type 3 |
| 1344 | Atrial standstill |
| 1345 | Cardiomyopathy-cataract-hip spine disease syndrome |
| 1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss |
| 135 | CACH syndrome |
| 1350 | Heart-hand syndrome type 2 |
| 1352 | Atrioventricular defect-blepharophimosis-radial and anal defect syndrome |
| 1354 | Heart defects-limb shortening syndrome |
| 1355 | Congenital heart defect-round face-developmental delay syndrome |
| 1358 | Carey-Fineman-Ziter syndrome |
| 1359 | Carney complex |
| 136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy |
| 1361 | Carnosinase deficiency |
| 1366 | Autosomal recessive palmoplantar keratoderma and congenital alopecia |
| 1368 | Cataract-ataxia-deafness syndrome |
| 1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome |
| 1373 | Cataract-aberrant oral frenula-growth delay syndrome |
| 1375 | Cataract-hypertrichosis-intellectual disability syndrome |
| 137577 | Neonatal hypoxic and ischemic brain injury |
| 137583 | Vulvar intraepithelial neoplasia |
| 137593 | Infectious epithelial keratitis |
| 137596 | Neurotrophic keratopathy |
| 137599 | Herpes simplex virus stromal keratitis |
| 137602 | Corneal endotheliitis |
| 137605 | Legius syndrome |
| 137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome |
| 137617 | Nephrogenic systemic fibrosis |
| 137622 | Intractable diarrhea-choanal atresia-eye anomalies syndrome |
| 137625 | Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| 137628 | Cardiac anomalies-heterotaxy syndrome |
| 137631 | Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome |
| 137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome |
| 137639 | Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome |
| 137667 | Capillary malformation-arteriovenous malformation |
| 137672 | Pellucid marginal degeneration |
| 137675 | Histiocytoid cardiomyopathy |
| 137678 | Spondyloepiphyseal dysplasia with metatarsal shortening |
| 137681 | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
| 137686 | Asherman syndrome |
| 137698 | Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk |
| 1377 | Cataract-microcornea syndrome |
| 137754 | Neurological conditions associated with aminoacylase 1 deficiency |
| 137776 | Lethal congenital contracture syndrome type 2 |
| 137783 | Lethal congenital contracture syndrome type 3 |
| 137810 | Nodular cutaneous amyloidosis |
| 137814 | Macular amyloidosis |
| 137817 | Arachnoiditis |
| 137820 | Extrapelvic endometriosis |
| 137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome |
| 137834 | Frank-Ter Haar syndrome |
| 137839 | Lemierre syndrome |
| 137867 | Madras motor neuron disease |
| 137888 | Auriculocondylar syndrome |
| 137893 | Male infertility due to large-headed multiflagellar polyploid spermatozoa |
| 137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome |
| 137908 | Hypotonia with lactic acidemia and hyperammonemia |
| 137914 | Choanal atresia |
| 137917 | Choanal atresia, unilateral |
| 137920 | Choanal atresia, bilateral |
| 137926 | Primary laryngeal lymphangioma |
| 137929 | Neonatal brainstem dysfunction |
| 137932 | Congenital laryngeal palsy |
| 137935 | Laryngotracheal angioma |
| 138 | CHARGE syndrome |
| 1380 | Cataract-nephropathy-encephalopathy syndrome |
| 1381 | Cataract-intellectual disability-anal atresia-urinary defects syndrome |
| 1383 | Cataract-deafness-hypogonadism syndrome |
| 1387 | Cataract-intellectual disability-hypogonadism syndrome |
| 1388 | Catel-Manzke syndrome |
| 1389 | Cortical blindness-intellectual disability-polydactyly syndrome |
| 139 | CHILD syndrome |
| 1390 | Night blindness-skeletal anomalies-dysmorphism syndrome |
| 1393 | Cerebrocostomandibular syndrome |
| 139396 | X-linked cerebral adrenoleukodystrophy |
| 139399 | Adrenomyeloneuropathy |
| 1394 | Cerebrofaciothoracic dysplasia |
| 139402 | Drug reaction with eosinophilia and systemic symptoms |
| 139406 | Encephalopathy due to prosaposin deficiency |
| 139411 | Carney triad |
| 139414 | Congenital panfollicular nevus |
| 139417 | Acute transverse myelitis |
| 139423 | Idiopathic acute transverse myelitis |
| 139426 | Perioral myoclonia with absences |
| 139431 | Jeavons syndrome |
| 139436 | Multicentric reticulohistiocytosis |
| 139441 | Hypomyelination with atrophy of basal ganglia and cerebellum |
| 139444 | Leukoencephalopathy with bilateral anterior temporal lobe cysts |
| 139447 | Progressive cavitating leukoencephalopathy |
| 139450 | Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome |
| 139455 | Autosomal recessive bestrophinopathy |
| 139466 | SERKAL syndrome |
| 139471 | Microphthalmia with brain and digit anomalies |
| 139474 | 17q11.2 microduplication syndrome |
| 139480 | Autosomal recessive spastic paraplegia type 39 |
| 139485 | Autosomal recessive ataxia due to ubiquinone deficiency |
| 139507 | Dietary iron overload disease |
| 139512 | Neuropathy with hearing impairment |
| 139515 | Charcot-Marie-Tooth disease type 4J |
| 139518 | Distal hereditary motor neuropathy type 1 |
| 139525 | Distal hereditary motor neuropathy type 2 |
| 139536 | Distal hereditary motor neuropathy type 5 |
| 139547 | Distal spinal muscular atrophy type 3 |
| 139552 | Distal hereditary motor neuropathy, Jerash type |
| 139557 | X-linked distal spinal muscular atrophy type 3 |
| 139564 | Hereditary sensory and autonomic neuropathy type 1B |
| 139573 | Hereditary sensory and autonomic neuropathy with deafness and global delay |
| 139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia |
| 139583 | X-linked hereditary sensory and autonomic neuropathy with deafness |
| 139589 | Distal hereditary motor neuropathy type 7 |
| 1397 | Hydrocephaly-cerebellar agenesis syndrome |
| 1398 | Isolated cerebellar agenesis |
| 1399 | Richards-Rundle syndrome |
| 14 | Abetalipoproteinemia |
| 140 | Campomelic dysplasia |
| 1401 | CHAND syndrome |
| 140286 | Secondary hypoparathyroidism due to impaired parathormon secretion |
| 140436 | Primary intraosseous venous malformation |
| 140481 | Autosomal dominant slowed nerve conduction velocity |
| 1406 | Charlie M syndrome |
| 140896 | Severe acute respiratory syndrome |
| 140905 | Hyperlipidemia due to hepatic triacylglycerol lipase deficiency |
| 140908 | Brachydactyly type B2 |
| 140917 | Stapes ankylosis with broad thumbs and toes |
| 140922 | Titin-related limb-girdle muscular dystrophy R10 |
| 140927 | Benign familial neonatal-infantile seizures |
| 140933 | Linear atrophoderma of Moulin |
| 140936 | Lelis syndrome |
| 140941 | Short stature due to primary acid-labile subunit deficiency |
| 140944 | CLOVES syndrome |
| 140949 | Low-flow priapism |
| 140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome |
| 140957 | Autosomal dominant macrothrombocytopenia |
| 140963 | Bilateral microtia-deafness-cleft palate syndrome |
| 140966 | Palmoplantar keratoderma, Nagashima type |
| 140969 | Saldino-Mainzer syndrome |
| 140976 | RHYNS syndrome |
| 140989 | Primary angiitis of the central nervous system |
| 141 | Canavan disease |
| 1410 | Uncombable hair syndrome |
| 141000 | Orofaciodigital syndrome type 11 |
| 141007 | Orofaciodigital syndrome type 9 |
| 141013 | First branchial cleft anomaly |
| 141022 | Second branchial cleft anomaly |
| 141030 | Third branchial cleft anomaly |
| 141037 | Fourth branchial cleft anomaly |
| 141046 | Cervical dermoid cyst |
| 141051 | Facial dermoid cyst |
| 141061 | Commissural lip fistula |
| 141064 | Lower lip fistula |
| 141067 | Cervicofacial fibrochondroma |
| 141071 | Digestive duplication cyst of the tongue |
| 141074 | External auditory canal aplasia/hypoplasia |
| 141077 | Epignathus |
| 141083 | Nasolacrimal duct cyst |
| 141091 | Polyrrhinia |
| 141096 | Supernumerary nostril |
| 141099 | Proboscis lateralis |
| 141103 | Nasal dermoid cyst |
| 141107 | Nasopharyngeal teratoma |
| 141112 | Nasal glial heterotopia |
| 141115 | Nasal ganglioglioma |
| 141118 | Nasal encephalocele |
| 141121 | Congenital subglottic stenosis |
| 141124 | Congenital laryngeal cyst |
| 141127 | Congenital tracheal stenosis |
| 141132 | Oculo-auriculo-vertebral spectrum |
| 141145 | Hemifacial hyperplasia |
| 141148 | Hemifacial myohyperplasia |
| 141152 | Isolated congenital hypoglossia/aglossia |
| 141163 | Glossopalatine ankylosis |
| 141168 | Frontonasal arteriovenous malformation |
| 141171 | Maxillary arteriovenous malformation |
| 141174 | Mandibular arteriovenous malformation |
| 141179 | Non-involuting congenital hemangioma |
| 141184 | Rapidly involuting congenital hemangioma |
| 141194 | Cerebrofacial arteriovenous metameric syndrome type 1 |
| 141199 | Cerebrofacial arteriovenous metameric syndrome type 3 |
| 1412 | Tarsal-carpal coalition syndrome |
| 141209 | Diffuse lymphatic malformation |
| 141214 | Isolated congenital syngnathia |
| 141219 | Nasal dorsum fistula |
| 141239 | Median cleft of the upper lip and maxilla |
| 141242 | Paramedian nasal cleft |
| 141258 | Tessier number 4 facial cleft |
| 141261 | Tessier number 5 facial cleft |
| 141265 | Tessier number 6 facial cleft |
| 141276 | Tessier number 7 facial cleft |
| 141288 | Midline cervical cleft |
| 141291 | Cleft lip and alveolus |
| 141327 | Orofaciodigital syndrome type 12 |
| 141330 | Orofaciodigital syndrome type 13 |
| 141333 | Biemond syndrome type 2 |
| 1414 | Cholestasis-lymphedema syndrome |
| 1415 | Cholestasis-pigmentary retinopathy-cleft palate syndrome |
| 1416 | Familial calcium pyrophosphate deposition |
| 142 | Anaplastic thyroid carcinoma |
| 1422 | Chondrodysplasia-difference of sex development syndrome |
| 1423 | Lethal recessive chondrodysplasia |
| 1425 | Desbuquois syndrome |
| 1426 | Greenberg dysplasia |
| 1427 | Otospondylomegaepiphyseal dysplasia |
| 1429 | Benign hereditary chorea |
| 143 | Parathyroid carcinoma |
| 1433 | Choroidal atrophy-alopecia syndrome |
| 1435 | Xq21 microdeletion syndrome |
| 1436 | X-linked skeletal dysplasia-intellectual disability syndrome |
| 1437 | Ring chromosome 1 syndrome |
| 1438 | Ring chromosome 10 syndrome |
| 1439 | Ring chromosome 12 syndrome |
| 144 | Lynch syndrome |
| 1440 | Ring chromosome 14 syndrome |
| 1441 | Ring chromosome 17 syndrome |
| 1442 | Ring chromosome 18 syndrome |
| 1443 | Ring chromosome 19 syndrome |
| 1444 | Ring chromosome 20 syndrome |
| 1445 | Ring chromosome 21 syndrome |
| 1446 | Ring chromosome 22 syndrome |
| 1447 | Ring chromosome 4 syndrome |
| 1448 | Ring chromosome 6 syndrome |
| 1449 | Ring chromosome 7 syndrome |
| 145 | Hereditary breast and/or ovarian cancer syndrome |
| 1450 | Ring chromosome 8 syndrome |
| 1451 | CINCA syndrome |
| 1452 | Cleidocranial dysplasia |
| 1453 | Cleidorhizomelic syndrome |
| 1454 | Joubert syndrome with hepatic defect |
| 1455 | Autosomal dominant coarctation of aorta |
| 1456 | Atypical coarctation of aorta |
| 1457 | Aorta coarctation |
| 1458 | CODAS syndrome |
| 1459 | Celiac disease-epilepsy-cerebral calcification syndrome |
| 146 | Differentiated thyroid carcinoma |
| 1460 | Isolated complex III deficiency |
| 1461 | Criss-cross heart |
| 1464 | Univentricular heart |
| 1465 | Coffin-Siris syndrome |
| 1466 | COFS syndrome |
| 1467 | Cogan syndrome |
| 147 | Carbamoyl-phosphate synthetase 1 deficiency |
| 1471 | Coloboma of macula-brachydactyly type B syndrome |
| 1473 | Uveal coloboma-cleft lip and palate-intellectual disability |
| 1475 | Renal coloboma syndrome |
| 1478 | Interatrial communication |
| 1479 | Atrial septal defect-atrioventricular conduction defects syndrome |
| 1482 | Gonococcal conjunctivitis |
| 1484 | Contractures-ectodermal dysplasia-cleft lip/palate syndrome |
| 1485 | Arthrogryposis-hyperkeratosis syndrome, lethal form |
| 1486 | Lethal congenital contracture syndrome type 1 |
| 1487 | Cooks syndrome |
| 1488 | Cooper-Jabs syndrome |
| 1489 | Whooping cough |
| 1490 | Corneal dystrophy-perceptive deafness syndrome |
| 1493 | Vici syndrome |
| 1495 | Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome |
| 1496 | Corpus callosum agenesis-neuronopathy syndrome |
| 1497 | X-linked complicated corpus callosum dysgenesis |
| 15 | Achondroplasia |
| 150 | Nasopharyngeal carcinoma |
| 1501 | Adrenocortical carcinoma |
| 1506 | Thin ribs-tubular bones-dysmorphism syndrome |
| 1507 | Autosomal recessive Robinow syndrome |
| 1508 | Coxoauricular syndrome |
| 1509 | Coxopodopatellar syndrome |
| 1512 | Crane-Heise syndrome |
| 1513 | Craniodiaphyseal dysplasia |
| 1514 | Craniodigital-intellectual disability syndrome |
| 1515 | Cranioectodermal dysplasia |
| 1516 | Non-syndromic bilambdoid and sagittal craniosynostosis |
| 1517 | Cantú syndrome |
| 1519 | SPECC1L-related hypertelorism syndrome |
| 1520 | Craniofrontonasal dysplasia |
| 1521 | Craniofrontonasal dysplasia-Poland anomaly syndrome |
| 1522 | Craniometaphyseal dysplasia |
| 1524 | Craniomicromelic syndrome |
| 1525 | Cranio-osteoarthropathy |
| 1527 | Craniosynostosis, Philadelphia type |
| 1528 | Craniotelencephalic dysplasia |
| 1529 | Craniofacial-deafness-hand syndrome |
| 1532 | Gómez-López-Hernández syndrome |
| 1538 | Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome |
| 154 | Familial isolated dilated cardiomyopathy |
| 1540 | Jackson-Weiss syndrome |
| 1541 | Craniosynostosis, Boston type |
| 1544 | Benign focal seizures of adolescence |
| 1545 | Crisponi syndrome |
| 1546 | Cryptococcosis |
| 1547 | Cryptomicrotia-brachydactyly-excess fingertip arch syndrome |
| 1548 | Cryptorchidism-arachnodactyly-intellectual disability syndrome |
| 1551 | Familial benign copper deficiency |
| 1552 | Currarino syndrome |
| 1553 | Curry-Jones syndrome |
| 1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome |
| 1556 | Cutis marmorata telangiectatica congenita |
| 155838 | Pinnae fistula or cyst |
| 155878 | Submucosal cleft palate |
| 155884 | Coloboma of superior eyelid |
| 155889 | Coloboma of inferior eyelid |
| 156 | Carnitine palmitoyl transferase 1A deficiency |
| 1560 | Cysticercosis |
| 1561 | Fatal infantile cytochrome C oxidase deficiency |
| 1562 | Dacryocystitis-osteopoikilosis syndrome |
| 1563 | Dahlberg-Borer-Newcomer syndrome |
| 1566 | Dandy-Walker malformation-postaxial polydactyly syndrome |
| 156728 | Spondyloepimetaphyseal dysplasia, matrilin-3 type |
| 156731 | Dyssegmental dysplasia, Rolland-Desbuquois type |
| 1568 | X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome |
| 157 | Carnitine palmitoyltransferase II deficiency |
| 1570 | Symbrachydactyly of hands and feet |
| 1571 | Knobloch syndrome |
| 1572 | Common variable immunodeficiency |
| 157215 | Hereditary hypophosphatemic rickets with hypercalciuria |
| 1573 | Hypotrichosis with juvenile macular degeneration |
| 1574 | Retinal degeneration-nanophthalmos-glaucoma syndrome |
| 157713 | Congenital or early infantile CACH syndrome |
| 157716 | Late infantile CACH syndrome |
| 157719 | Juvenile or adult CACH syndrome |
| 157769 | Situs ambiguus |
| 157791 | Epithelioid hemangioendothelioma |
| 157794 | Hereditary mixed polyposis syndrome |
| 157798 | Serrated polyposis syndrome |
| 1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency |
| 157801 | Mesoaxial synostotic syndactyly with phalangeal reduction |
| 157808 | Congenital pseudoarthrosis of the limbs |
| 157820 | Cold-induced sweating syndrome |
| 157823 | Klüver-Bucy syndrome |
| 157826 | Congenital epulis |
| 157832 | Craniorhiny |
| 157835 | Paroxysmal hemicrania |
| 157846 | Neuroferritinopathy |
| 157850 | Pantothenate kinase-associated neurodegeneration |
| 157941 | Huntington disease-like 1 |
| 157946 | Huntington disease-like 3 |
| 157949 | Combined immunodeficiency with granulomatosis |
| 157954 | ANE syndrome |
| 157962 | Oculoauricular syndrome, Schorderet type |
| 157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome |
| 157973 | Congenital muscular dystrophy due to LMNA mutation |
| 157991 | Generalized eruptive histiocytosis |
| 157997 | Benign cephalic histiocytosis |
| 158 | Systemic primary carnitine deficiency |
| 1580 | Distal deletion 10p |
| 158000 | Juvenile xanthogranuloma |
| 158003 | Xanthoma disseminatum |
| 158008 | Papular xanthoma |
| 158011 | Necrobiotic xanthogranuloma |
| 158014 | Rosaï-Dorfman disease |
| 158019 | Indeterminate cell histiocytosis |
| 158022 | Progressive nodular histiocytosis |
| 158025 | Hereditary progressive mucinous histiocytosis |
| 158029 | Sea-blue histiocytosis |
| 158048 | Hemophagocytic syndrome associated with an infection |
| 158057 | Acquired hemophagocytic lymphohistiocytosis associated with malignant disease |
| 158061 | Macrophage activation syndrome |
| 1581 | Non-distal deletion 10q |
| 158668 | Ectodermal dysplasia-skin fragility syndrome |
| 158673 | Localized dystrophic epidermolysis bullosa, acral form |
| 158676 | Localized dystrophic epidermolysis bullosa, nails only |
| 158681 | Epidermolysis bullosa simplex with circinate migratory erythema |
| 158684 | Epidermolysis bullosa simplex with pyloric atresia |
| 158687 | Lethal acantholytic erosive disorder |
| 1587 | Monosomy 13q14 |
| 158766 | Typical urticaria pigmentosa |
| 158769 | Plaque-form urticaria pigmentosa |
| 158772 | Nodular urticaria pigmentosa |
| 158775 | Smoldering systemic mastocytosis |
| 158778 | Isolated bone marrow mastocytosis |
| 159 | Carnitine-acylcarnitine translocase deficiency |
| 1590 | Distal deletion 13q |
| 1596 | Distal deletion 15q |
| 1597 | Distal deletion 17q |
| 1598 | Monosomy 18p |
| 16 | Blue cone monochromatism |
| 160 | Castleman disease |
| 1600 | Monosomy 18q |
| 160148 | Cap polyposis |
| 1606 | 1p36 deletion syndrome |
| 1617 | 2q24 microdeletion syndrome |
| 162 | Cataract-glaucoma syndrome |
| 1620 | Distal deletion 3p |
| 1621 | 3q13 microdeletion syndrome |
| 162516 | Isolated congenital nasal pyriform aperture stenosis |
| 162526 | Isolated congenital auditory ossicle malformation |
| 1627 | Deletion 5q35 |
| 163 | Hereditary hyperferritinemia-cataract syndrome |
| 163525 | Subacute cutaneous lupus erythematosus |
| 163596 | Hb Bart's hydrops fetalis |
| 1636 | Distal monosomy 7q36 |
| 163634 | Maffucci syndrome |
| 163649 | Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome |
| 163654 | Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome |
| 163662 | Spondyloepiphyseal dysplasia, Reardon type |
| 163665 | Spondyloepiphyseal dysplasia tarda, Kohn type |
| 163668 | Spondyloepiphyseal dysplasia, MacDermot type |
| 163681 | CNTNAP2-related developmental and epileptic encephalopathy |
| 163684 | Leukoencephalopathy-dystonia-motor neuropathy syndrome |
| 163690 | Hypotonia-cystinuria syndrome |
| 163693 | 2p21 microdeletion syndrome |
| 163696 | Action myoclonus-renal failure syndrome |
| 163699 | Alveolar soft tissue sarcoma |
| 163703 | Febrile infection-related epilepsy syndrome |
| 163708 | Cryptogenic late-onset epileptic spasms |
| 163717 | Benign familial mesial temporal lobe epilepsy |
| 163721 | Rolandic epilepsy-speech dyspraxia syndrome |
| 163727 | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome |
| 163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease |
| 163921 | Posttransplant acute limbic encephalitis |
| 163927 | Pustulosis palmaris et plantaris |
| 163931 | Acrodermatitis continua of Hallopeau |
| 163934 | Atopic keratoconjunctivitis |
| 163937 | X-linked intellectual disability, Najm type |
| 163956 | X-linked intellectual disability, Nascimento type |
| 163961 | X-linked cerebral-cerebellar-coloboma syndrome |
| 163966 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type |
| 163971 | X-linked intellectual disability, Cilliers type |
| 163976 | X-linked intellectual disability, Van Esch type |
| 163979 | X-linked intellectual disability-craniofacioskeletal syndrome |
| 163985 | Hyperekplexia-epilepsy syndrome |
| 1642 | Distal deletion 9p |
| 1643 | Xp22.3 microdeletion syndrome |
| 1646 | Partial chromosome Y deletion |
| 1647 | Oculocerebrocutaneous syndrome |
| 164726 | Acute myeloid leukemia and myelodysplastic syndromes related to radiation |
| 164736 | Familial advanced sleep-phase syndrome |
| 1652 | Dent disease |
| 1653 | Dentin dysplasia |
| 1655 | Müllerian derivatives-lymphangiectasia-polydactyly syndrome |
| 1656 | Dermatitis herpetiformis |
| 1657 | Dermatoosteolysis, Kirghizian type |
| 1658 | Absence of fingerprints-congenital milia syndrome |
| 165805 | Familial mesial temporal lobe epilepsy with febrile seizures |
| 1659 | Dermatoleukodystrophy |
| 165955 | Wound myiasis |
| 165958 | Cavitary myiasis |
| 165991 | Exercise-induced hyperinsulinism |
| 1660 | Dermoodontodysplasia |
| 166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly |
| 166011 | Multiple epiphyseal dysplasia, Beighton type |
| 166016 | Multiple epiphyseal dysplasia, Lowry type |
| 166024 | Multiple epiphyseal dysplasia, Al-Gazali type |
| 166029 | Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia |
| 166032 | Multiple epiphyseal dysplasia, with miniepiphyses |
| 166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome |
| 166038 | Metaphyseal chondrodysplasia, Kaitila type |
| 166063 | Pontocerebellar hypoplasia type 4 |
| 166073 | Pontocerebellar hypoplasia type 6 |
| 166078 | Von Willebrand disease type 1 |
| 166081 | Von Willebrand disease type 2 |
| 166084 | Von Willebrand disease type 2A |
| 166087 | Von Willebrand disease type 2B |
| 166090 | Von Willebrand disease type 2M |
| 166093 | Von Willebrand disease type 2N |
| 166096 | Von Willebrand disease type 3 |
| 1661 | X-linked corneal dermoid |
| 166100 | Autosomal dominant otospondylomegaepiphyseal dysplasia |
| 166105 | FASTKD2-related infantile mitochondrial encephalomyopathy |
| 166108 | Intellectual disability, Birk-Barel type |
| 166113 | Bazex syndrome |
| 166119 | Isolated osteopoikilosis |
| 1662 | Restrictive dermopathy |
| 166260 | Dentinogenesis imperfecta type 2 |
| 166265 | Dentinogenesis imperfecta type 3 |
| 166272 | Odontochondrodysplasia |
| 166277 | Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia |
| 166282 | Familial sick sinus syndrome |
| 166286 | Porokeratotic eccrine ostial and dermal duct nevus |
| 166291 | Dirofilariasis |
| 166299 | Benign partial epilepsy of infancy with complex partial seizures |
| 166302 | Benign partial epilepsy with secondarily generalized seizures in infancy |
| 166305 | Benign infantile seizures associated with mild gastroenteritis |
| 166308 | Benign infantile focal epilepsy with midline spikes and waves during sleep |
| 166409 | Photosensitive epilepsy |
| 166412 | Hot water reflex epilepsy |
| 166415 | Audiogenic seizures |
| 166418 | Eating reflex epilepsy |
| 166421 | Orgasm-induced seizures |
| 166424 | Thinking seizures |
| 166427 | Startle epilepsy |
| 166430 | Micturation-induced seizures |
| 166433 | Reading seizures |
| 1665 | Sporadic fetal brain disruption sequence |
| 1666 | Dextrocardia |
| 1667 | Wolcott-Rallison syndrome |
| 167 | Chédiak-Higashi syndrome |
| 1670 | Chronic diarrhea with villous atrophy |
| 1671 | Split cord malformation type I |
| 1672 | Diencephalic syndrome |
| 1675 | Dihydropyrimidine dehydrogenase deficiency |
| 1676 | Idiopathic pulmonary artery dilatation |
| 167635 | Scleromyxedema |
| 1677 | Familial idiopathic dilatation of the right atrium |
| 1679 | Diphtheria |
| 168 | Loose anagen syndrome |
| 1681 | Diprosopus |
| 1682 | Arterial dissection-lentiginosis syndrome |
| 168443 | Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome |
| 168451 | Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome |
| 168454 | Spondyloepimetaphyseal dysplasia, Geneviève type |
| 168486 | Congenital neuronal ceroid lipofuscinosis |
| 168491 | Late infantile neuronal ceroid lipofuscinosis |
| 1685 | Distomatosis |
| 168544 | Spondylometaphyseal dysplasia, Golden type |
| 168549 | Axial spondylometaphyseal dysplasia |
| 168552 | Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome |
| 168555 | Spondylometaphyseal dysplasia, A4 type |
| 168558 | 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| 168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome |
| 168566 | Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
| 168569 | H syndrome |
| 168572 | Native American myopathy |
| 168577 | Hereditary cryohydrocytosis with reduced stomatin |
| 168583 | Hereditary North American Indian childhood cirrhosis |
| 168588 | Hyperandrogenism due to cortisone reductase deficiency |
| 168593 | Sudden infant death-dysgenesis of the testes syndrome |
| 168598 | Methionine adenosyltransferase I/III deficiency |
| 1686 | Cardiac diverticulum |
| 168601 | Congenital enteropathy due to enteropeptidase deficiency |
| 168606 | Seborrhea-like dermatitis with psoriasiform elements |
| 168612 | Congenital deficiency in alpha-fetoprotein |
| 168615 | Hereditary persistence of alpha-fetoprotein |
| 168621 | Dysplasia of head of femur, Meyer type |
| 168624 | Familial scaphocephaly syndrome, McGillivray type |
| 168629 | Autosomal thrombocytopenia with normal platelets |
| 168632 | Generalized basaloid follicular hamartoma syndrome |
| 168782 | Childhood disintegrative disorder |
| 168796 | Heart-hand syndrome, Slovenian type |
| 168811 | Malignant peritoneal mesothelioma |
| 168816 | Peritoneal cystic mesothelioma |
| 168829 | Primary peritoneal carcinoma |
| 168940 | Chronic eosinophilic leukemia |
| 168947 | Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement |
| 168950 | Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement |
| 168953 | Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement |
| 168960 | Refractory anemia with excess blasts in transformation |
| 168966 | Composite lymphoma |
| 168984 | CLAPO syndrome |
| 168999 | Malignant melanoma of the mucosa |
| 169 | Ringed hair disease |
| 169079 | Cernunnos-XLF deficiency |
| 169082 | Combined immunodeficiency due to CD3gamma deficiency |
| 169085 | Susceptibility to respiratory infections associated with CD8alpha chain mutation |
| 169090 | Combined immunodeficiency due to CRAC channel dysfunction |
| 169095 | Severe combined immunodeficiency due to FOXN1 deficiency |
| 169100 | Immunodeficiency due to CD25 deficiency |
| 169105 | Good syndrome |
| 169110 | Immunoglobulin heavy chain deficiency |
| 169139 | Transient hypogammaglobulinemia of infancy |
| 169142 | Recurrent infection due to specific granule deficiency |
| 169147 | Immunodeficiency due to a classical component pathway complement deficiency |
| 169150 | Immunodeficiency due to a late component of complement deficiency |
| 169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency |
| 169157 | T-B+ severe combined immunodeficiency due to CD45 deficiency |
| 169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta |
| 169186 | Autosomal recessive centronuclear myopathy |
| 169189 | Autosomal dominant centronuclear myopathy |
| 1692 | Mosaic trisomy 1 |
| 169464 | Primary CD59 deficiency |
| 169467 | Recurrent Neisseria infections due to factor D deficiency |
| 1695 | Non-distal duplication 10q |
| 169793 | Severe hemophilia B |
| 169796 | Moderate hemophilia B |
| 169799 | Mild hemophilia B |
| 1698 | Mosaic trisomy 12 |
| 169802 | Severe hemophilia A |
| 169805 | Moderate hemophilia A |
| 169808 | Mild hemophilia A |
| 1699 | Trisomy 12p |
| 17 | Fatal infantile lactic acidosis with methylmalonic aciduria |
| 170 | Woolly hair |
| 1702 | Non-distal duplication 13q |
| 1703 | Mosaic trisomy 14 |
| 1705 | Distal duplication 14q |
| 1706 | Mosaic trisomy 15 |
| 1707 | Distal duplication 15q |
| 1708 | Mosaic trisomy 16 |
| 171 | Primary sclerosing cholangitis |
| 1711 | Mosaic trisomy 17 |
| 171220 | Rectal duplication |
| 1713 | 17p11.2 microduplication syndrome |
| 171430 | Severe congenital nemaline myopathy |
| 171433 | Intermediate nemaline myopathy |
| 171436 | Typical nemaline myopathy |
| 171439 | Childhood-onset nemaline myopathy |
| 171442 | Adult-onset nemaline myopathy |
| 171445 | Muscle filaminopathy |
| 1715 | Trisomy 18p |
| 1716 | Distal duplication 18q |
| 171607 | X-linked spastic paraplegia type 34 |
| 171612 | Autosomal dominant spastic paraplegia type 37 |
| 171617 | Autosomal dominant spastic paraplegia type 38 |
| 171622 | Autosomal recessive spastic paraplegia type 32 |
| 171629 | Autosomal recessive spastic paraplegia type 35 |
| 171673 | Limbal stem cell deficiency |
| 171680 | Lissencephaly due to TUBA1A mutation |
| 171684 | Idiopathic bilateral vestibulopathy |
| 171690 | Metabolic myopathy due to lactate transporter defect |
| 171695 | Parkinsonian-pyramidal syndrome |
| 1717 | Distal duplication 19q |
| 171700 | Diffuse panbronchiolitis |
| 171703 | Microcephaly-polymicrogyria-corpus callosum agenesis syndrome |
| 171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency |
| 171709 | Male infertility due to globozoospermia |
| 171719 | Cutis laxa-Marfanoid syndrome |
| 171723 | White sponge nevus |
| 171829 | 6q16 microdeletion syndrome |
| 171839 | Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome |
| 171844 | Blindness-scoliosis-arachnodactyly syndrome |
| 171848 | Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome |
| 171851 | MEDNIK syndrome |
| 171863 | Autosomal dominant spastic paraplegia type 42 |
| 171866 | Spondyloepimetaphyseal dysplasia, aggrecan type |
| 171871 | Renal pseudohypoaldosteronism type 1 |
| 171876 | Generalized pseudohypoaldosteronism type 1 |
| 171881 | Cap myopathy |
| 171886 | Cylindrical spirals myopathy |
| 171889 | Myopathy with hexagonally cross-linked tubular arrays |
| 171929 | Trisomy 10p |
| 172 | Progressive familial intrahepatic cholestasis |
| 1723 | Mosaic trisomy 2 |
| 1724 | Mosaic trisomy 20 |
| 1727 | 22q11.2 duplication syndrome |
| 173 | Cholera |
| 1738 | Trisomy 4p |
| 174 | Metaphyseal chondrodysplasia, Schmid type |
| 1742 | Trisomy 5p |
| 1745 | Distal duplication 6p |
| 1747 | Mosaic trisomy 7 |
| 175 | Cartilage-hair hypoplasia |
| 1752 | Trisomy 8q |
| 1756 | Caudal duplication |
| 1757 | Fibular dimelia-diplopodia syndrome |
| 1759 | Thoraco-abdominal enteric duplication |
| 1762 | Proximal Xq28 duplication syndrome |
| 1764 | Familial dysautonomia |
| 1765 | Dyschondrosteosis-nephritis syndrome |
| 1766 | Dysequilibrium syndrome |
| 1768 | Familial caudal dysgenesis |
| 177 | Rhizomelic chondrodysplasia punctata |
| 1770 | XY type gonadal dysgenesis-associated anomalies syndrome |
| 1772 | 45,X/46,XY mixed gonadal dysgenesis |
| 1775 | Dyskeratosis congenita |
| 1777 | Temtamy syndrome |
| 1778 | Facial dysmorphism-shawl scrotum-joint laxity syndrome |
| 1779 | Dysmorphism-cleft palate-loose skin syndrome |
| 177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 |
| 177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 |
| 177907 | Prader-Willi syndrome due to translocation |
| 177910 | Prader-Willi syndrome due to imprinting mutation |
| 177926 | Bleeding disorder in hemophilia A carriers |
| 177929 | Bleeding disorder in hemophilia B carriers |
| 178 | Chordoma |
| 1780 | Thakker-Donnai syndrome |
| 178029 | Central diabetes insipidus |
| 178145 | Moderate multiminicore disease with hand involvement |
| 178148 | Antenatal multiminicore disease with arthrogryposis multiplex congenita |
| 1782 | Dysosteosclerosis |
| 178303 | 8q22.1 microdeletion syndrome |
| 178307 | Reticulate acropigmentation of Kitamura |
| 178311 | Isolated sternocostoclavicular hyperostosis |
| 178315 | Undifferentiated embryonal sarcoma of the liver |
| 178320 | Acute lung injury |
| 178333 | Åland Islands eye disease |
| 178338 | UV-sensitive syndrome |
| 178342 | Inflammatory myofibroblastic tumor |
| 178345 | Aromatase excess syndrome |
| 178355 | Smith-McCort dysplasia |
| 178364 | Syndromic microphthalmia type 5 |
| 178377 | Osteosclerosis-developmental delay-craniosynostosis syndrome |
| 178382 | Congenital vertical talus |
| 178389 | Osteopetrosis-hypogammaglobulinemia syndrome |
| 178396 | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation |
| 1784 | Acrofrontofacionasal dysostosis |
| 178400 | Distal myopathy with anterior tibial onset |
| 178461 | X-linked myopathy with postural muscle atrophy |
| 178464 | Hereditary myopathy with early respiratory failure |
| 178469 | Autosomal dominant non-syndromic intellectual disability |
| 178475 | Wound botulism |
| 178478 | Infant botulism |
| 178481 | Intestinal botulism |
| 178487 | Adult intestinal botulism |
| 178493 | Myopic macular degeneration |
| 178506 | Brain calcification, Rajab type |
| 178509 | Perry syndrome |
| 178512 | Folliculotropic mycosis fungoides |
| 178517 | Localized pagetoid reticulosis |
| 178522 | Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma |
| 178528 | Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma |
| 178533 | Primary cutaneous gamma/delta-positive T-cell lymphoma |
| 178536 | Primary cutaneous marginal zone B-cell lymphoma |
| 178540 | Primary cutaneous follicle center lymphoma |
| 178544 | Primary cutaneous diffuse large B-cell lymphoma, leg type |
| 1786 | Acrofacial dysostosis, Catania type |
| 1787 | Acrofacial dysostosis, Palagonia type |
| 1788 | Acrofacial dysostosis, Rodríguez type |
| 179 | Birdshot chorioretinopathy |
| 1790 | Hypomandibular faciocranial dysostosis |
| 1791 | Frontofacionasal dysplasia |
| 1794 | Oculomaxillofacial dysostosis |
| 179490 | Obesity due to congenital leptin resistance |
| 179494 | Obesity due to leptin receptor gene deficiency |
| 1795 | Peripheral dysostosis |
| 1797 | Autosomal dominant spondylocostal dysostosis |
| 1798 | Dysostosis, Stanescu type |
| 1799 | Familial developmental dysphasia |
| 18 | Distal renal tubular acidosis |
| 180 | Choroideremia |
| 180074 | True unicornuate uterus |
| 180079 | Pseudounicornuate uterus |
| 180086 | Didelphys uterus |
| 1801 | Kyphomelic dysplasia |
| 180106 | Bicervical bicornuate uterus and blind hemivagina |
| 180111 | Bicervical bicornuate uterus with patent cervix and vagina |
| 180114 | Unicervical bicornuate uterus |
| 180126 | Complete septate uterus |
| 180129 | Partial septate uterus |
| 180139 | Uterine hypoplasia |
| 180142 | Absence of uterine body |
| 180145 | Uterine cervical aplasia and agenesis |
| 180154 | Septate vagina |
| 180157 | Longitudinal vaginal septum |
| 180160 | Transverse vaginal septum |
| 180176 | Familial juvenile hypertrophy of the breast |
| 180182 | Supernumerary breasts |
| 180188 | Isolated congenital breast hypoplasia/aplasia |
| 1802 | Ghosal hematodiaphyseal dysplasia |
| 180226 | Embryonal carcinoma |
| 180229 | Polyembryoma |
| 180234 | Mixed germ cell tumor |
| 180237 | Benign tumor of fallopian tubes |
| 180242 | Malignant tumor of fallopian tubes |
| 180247 | Vaginal carcinoma |
| 180261 | Phyllodes tumor of the breast |
| 180267 | Giant adenofibroma of the breast |
| 180275 | Paget disease of the nipple |
| 1803 | Thoracomelic dysplasia |
| 1806 | Ectodermal dysplasia-blindness syndrome |
| 1807 | Focal facial dermal dysplasia type III |
| 1808 | Hidrotic ectodermal dysplasia, Christianson-Fourie type |
| 1809 | Hidrotic ectodermal dysplasia, Halal type |
| 181 | X-linked hypohidrotic ectodermal dysplasia |
| 1810 | Autosomal dominant hypohidrotic ectodermal dysplasia |
| 1811 | Odontomicronychial dysplasia |
| 1812 | Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome |
| 1816 | Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome |
| 1818 | Ectodermal dysplasia, trichoodontoonychial type |
| 182 | Chromomycosis |
| 182050 | MYH9-related disease |
| 182127 | Extragonadal germinoma |
| 1822 | Dysplasia epiphysealis hemimelica |
| 1824 | Lowry-Wood syndrome |
| 1825 | Epiphyseal dysplasia-hearing loss-dysmorphism syndrome |
| 1826 | Frontometaphyseal dysplasia |
| 1827 | Acromelic frontonasal dysplasia |
| 183 | Eosinophilic granulomatosis with polyangiitis |
| 1830 | Schimke immuno-osseous dysplasia |
| 1832 | Lethal osteosclerotic bone dysplasia |
| 1834 | Axial mesodermal dysplasia spectrum |
| 1836 | Mesomelic dysplasia, Kantaputra type |
| 183663 | Hyper-IgM syndrome with susceptibility to opportunistic infections |
| 183666 | Hyper-IgM syndrome without susceptibility to opportunistic infections |
| 183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency |
| 183678 | Hermansky-Pudlak syndrome due to AP-3 deficiency |
| 1837 | Ulna metaphyseal dysplasia syndrome |
| 183707 | Neutrophil immunodeficiency syndrome |
| 183713 | Bacterial susceptibility due to TLR signaling pathway deficiency |
| 1839 | Hereditary mucoepithelial dysplasia |
| 184 | Cherubism |
| 1842 | Bone dysplasia, lethal Holmgren type |
| 1848 | Renal agenesis, bilateral |
| 185 | Scimitar syndrome |
| 1851 | Multicystic dysplastic kidney |
| 1852 | X-linked retinal dysplasia |
| 1855 | Spondyloenchondrodysplasia |
| 1856 | Spondyloperipheral dysplasia-short ulna syndrome |
| 1858 | Skeletal dysplasia-epilepsy-short stature syndrome |
| 186 | Primary biliary cholangitis |
| 1860 | Thanatophoric dysplasia type 1 |
| 1861 | Thoracic dysplasia-hydrocephalus syndrome |
| 1865 | Dyssegmental dysplasia, Silverman-Handmaker type |
| 1867 | Hereditary bullous dystrophy, macular type |
| 1871 | Progressive cone dystrophy |
| 1872 | Cone rod dystrophy |
| 1873 | Jalili syndrome |
| 1875 | Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome |
| 1876 | Oculogastrointestinal muscular dystrophy |
| 1878 | TRIM32-related limb-girdle muscular dystrophy R8 |
| 1879 | Melorheostosis with osteopoikilosis |
| 188 | Systemic capillary leak syndrome |
| 1880 | Ebstein malformation of the tricuspid valve |
| 1882 | Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome |
| 1883 | Ectodermal dysplasia-sensorineural deafness syndrome |
| 1884 | Ectopia lentis-chorioretinal dystrophy-myopia syndrome |
| 1885 | Isolated ectopia lentis |
| 189 | Hidrotic ectodermal dysplasia |
| 1891 | Intellectual disability-spasticity-ectrodactyly syndrome |
| 1892 | Ectrodactyly-polydactyly syndrome |
| 189427 | Cushing syndrome due to bilateral macronodular adrenocortical disease |
| 189466 | Familial isolated hypoparathyroidism due to impaired PTH secretion |
| 1895 | Edinburgh malformation syndrome |
| 1896 | EEC syndrome |
| 1897 | EEM syndrome |
| 1899 | Arthrochalasia Ehlers-Danlos syndrome |
| 190 | Coats disease |
| 1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency |
| 1901 | Dermatosparaxis Ehlers-Danlos syndrome |
| 1902 | Ehrlichiosis |
| 1906 | Fetal valproate spectrum disorder |
| 1908 | Aminopterin/methotrexate embryofetopathy |
| 1909 | Indomethacin embryofetopathy |
| 191 | Cockayne syndrome |
| 1910 | Fetal iodine syndrome |
| 1911 | Cocaine embryofetopathy |
| 1912 | Fetal hydantoin syndrome |
| 1913 | Fetal trimethadione syndrome |
| 1914 | Vitamin K antagonist embryofetopathy |
| 1915 | Fetal alcohol syndrome |
| 1916 | Diethylstilbestrol syndrome |
| 1917 | Fetal methylmercury syndrome |
| 1918 | Fetal minoxidil syndrome |
| 1919 | Phenobarbital embryopathy |
| 192 | Coffin-Lowry syndrome |
| 1920 | Toluene embryopathy |
| 1923 | Methimazole embryofetopathy |
| 1926 | Diabetic embryopathy |
| 1927 | Emery-Nelson syndrome |
| 1928 | Congenital lobar emphysema |
| 1929 | Rasmussen subacute encephalitis |
| 193 | Cohen syndrome |
| 1930 | Herpes simplex virus encephalitis |
| 1931 | Frontal encephalocele |
| 1933 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria |
| 1934 | Early infantile epileptic encephalopathy |
| 1935 | Early myoclonic encephalopathy |
| 1937 | Eng-Strom syndrome |
| 1941 | Juvenile absence epilepsy |
| 1942 | Myoclonic-astatic epilepsy |
| 1943 | Early-onset progressive encephalopathy with migrant continuous myoclonus |
| 1945 | Rolandic epilepsy |
| 1946 | Amelocerebrohypohidrotic syndrome |
| 1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type |
| 1948 | Epilepsy-microcephaly-skeletal dysplasia syndrome |
| 1949 | Benign familial neonatal epilepsy |
| 195 | Cat-eye syndrome |
| 1951 | Epilepsy-telangiectasia syndrome |
| 1952 | Epiphyseal stippling-osteoclastic hyperplasia syndrome |
| 1954 | Congenital lethal erythroderma |
| 1955 | Spinocerebellar ataxia type 34 |
| 1957 | Esthesioneuroblastoma |
| 1959 | Evans syndrome |
| 1962 | Exostoses-anetodermia-brachydactyly type E syndrome |
| 1964 | Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome |
| 1968 | Flat face-microstomia-ear anomaly syndrome |
| 1969 | Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome |
| 1970 | Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome |
| 1972 | Lethal faciocardiomelic dysplasia |
| 1973 | Faciocardiorenal syndrome |
| 1974 | Autosomal recessive faciodigitogenital syndrome |
| 1979 | Lipodystrophy due to peptidic growth factors deficiency |
| 198 | Occipital horn syndrome |
| 1980 | Bilateral striopallidodentate calcinosis |
| 1986 | Gollop-Wolfgang complex |
| 1987 | Femoral agenesis/hypoplasia |
| 1988 | Femoral-facial syndrome |
| 199 | Cornelia de Lange syndrome |
| 199241 | Pulmonary capillary hemangiomatosis |
| 199244 | Nelson syndrome |
| 199247 | Corticosteroid-binding globulin deficiency |
| 199251 | Ledderhose disease |
| 199260 | Calcifying aponeurotic fibroma |
| 199267 | Infantile digital fibromatosis |
| 199276 | Familial multiple lipomatosis |
| 199279 | Familial angiolipomatosis |
| 199282 | Harlequin syndrome |
| 199285 | Hereditary hypercarotenemia and vitamin A deficiency |
| 199293 | Congenital microgastria |
| 199296 | Congenital isolated ACTH deficiency |
| 199299 | Late-onset isolated ACTH deficiency |
| 1993 | Pai syndrome |
| 199302 | Isolated cleft lip |
| 199306 | Cleft lip/palate |
| 199310 | Tetragametic chimerism |
| 199315 | Familial clubfoot with or without associated lower limb anomalies |
| 199318 | 15q13.3 microdeletion syndrome |
| 199323 | Endophthalmitis |
| 199326 | Isolated autosomal dominant hypomagnesemia, Glaudemans type |
| 199329 | Congenital myopathy, Paradas type |
| 199332 | Endocrine-cerebro-osteodysplasia syndrome |
| 199337 | Pancreatic insufficiency-anemia-hyperostosis syndrome |
| 199340 | Muscular dystrophy, Selcen type |
| 199343 | EAST syndrome |
| 199348 | Thiamine-responsive encephalopathy |
| 199351 | Adult-onset dystonia-parkinsonism |
| 199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy |
| 1995 | Cleft lip-retinopathy syndrome |
| 199627 | Atypical autism |
| 199630 | Isolated cerebellar vermis hypoplasia |
| 199642 | Isolated congenital microcephaly |
| 199647 | Isolated encephalocele |
| 1997 | Blepharo-cheilo-odontic syndrome |
| 20 | 3-hydroxy-3-methylglutaric aciduria |
| 200 | Isolated corpus callosum agenesis |
| 2001 | Cleft lip/palate-intestinal malrotation-cardiopathy syndrome |
| 2003 | Cleft lip/palate-deafness-sacral lipoma syndrome |
| 2004 | Laryngotracheoesophageal cleft |
| 200418 | Immunodeficiency with factor I anomaly |
| 200421 | Immunodeficiency with factor H anomaly |
| 2006 | Median cleft lip/mandible |
| 2007 | Alar cartilages hypoplasia-coloboma-telecanthus syndrome |
| 2008 | Acrocardiofacial syndrome |
| 201 | Cowden syndrome |
| 2010 | Cleft palate-stapes fixation-oligodontia syndrome |
| 2013 | Cleft palate-large ears-small head syndrome |
| 2015 | Cleft palate-short stature-vertebral anomalies syndrome |
| 2016 | Cleft palate-lateral synechia syndrome |
| 2017 | Sternal cleft |
| 2019 | Femur-fibula-ulna complex |
| 202 | Crandall syndrome |
| 2020 | Congenital fiber-type disproportion myopathy |
| 2021 | Fibrochondrogenesis |
| 2022 | Endocardial fibroelastosis |
| 2023 | Undifferentiated pleomorphic sarcoma |
| 2024 | Hereditary gingival fibromatosis |
| 2025 | Gingival fibromatosis-facial dysmorphism syndrome |
| 2026 | Gingival fibromatosis-hypertrichosis syndrome |
| 2027 | Gingival fibromatosis-progressive deafness syndrome |
| 2028 | Juvenile hyaline fibromatosis |
| 2030 | Fibrosarcoma |
| 2031 | Hepatic fibrosis-renal cysts-intellectual disability syndrome |
| 2032 | Idiopathic pulmonary fibrosis |
| 2035 | Lymphatic filariasis |
| 2036 | Scalp-ear-nipple syndrome |
| 2037 | Congenital aortopulmonary window |
| 2038 | Pulmonary arteriovenous malformation |
| 2039 | Congenital systemic arteriovenous fistula |
| 204 | Sporadic Creutzfeldt-Jakob disease |
| 2040 | Congenital respiratory-biliary fistula |
| 2041 | Coronary arterial fistula |
| 2044 | Floating-Harbor syndrome |
| 2045 | FLOTCH syndrome |
| 2047 | Flynn-Aird syndrome |
| 2048 | Foix-Chavany-Marie syndrome |
| 205 | Crigler-Najjar syndrome |
| 2050 | Cole-Carpenter syndrome |
| 2052 | Fraser syndrome |
| 2053 | Freeman-Sheldon syndrome |
| 2056 | Essential fructosuria |
| 2057 | Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome |
| 2058 | Fryns-Smeets-Thiry syndrome |
| 2059 | Fryns syndrome |
| 2062 | Progressive non-infectious anterior vertebral fusion |
| 2063 | Splenogonadal fusion-limb defects-micrognathia syndrome |
| 2064 | Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome |
| 206436 | Infantile Krabbe disease |
| 206443 | Late-infantile/juvenile Krabbe disease |
| 206448 | Adult Krabbe disease |
| 206470 | Cystadenoma of childhood |
| 206484 | Gonadoblastoma |
| 206489 | Malignant germ cell tumor of the vagina |
| 206492 | Vulvovaginal rhabdomyosarcoma |
| 2065 | Galloway-Mowat syndrome |
| 206538 | Malignant non-dysgerminomatous germ cell tumor of ovary |
| 206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers |
| 206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 |
| 206554 | Fukutin-related limb-girdle muscular dystrophy R13 |
| 206559 | POMT2-related limb-girdle muscular dystrophy R14 |
| 206564 | POMGNT1-related limb-girdle muscular dystrophy R15 |
| 206569 | Immune-mediated necrotizing myopathy |
| 206572 | Overlap myositis |
| 206575 | Rippling muscle disease with myasthenia gravis |
| 206580 | Autosomal recessive lower motor neuron disease with childhood onset |
| 206583 | Adult polyglucosan body disease |
| 206586 | Neurolymphomatosis |
| 206594 | Subacute inflammatory demyelinating polyneuropathy |
| 206599 | Isolated asymptomatic elevation of creatine phosphokinase |
| 2066 | Gamma-aminobutyric acid transaminase deficiency |
| 2067 | GAPO syndrome |
| 2069 | Gastrocutaneous syndrome |
| 206991 | Viral myositis |
| 206994 | Bacterial myositis |
| 207 | Crouzon syndrome |
| 2070 | Eosinophilic gastroenteritis |
| 207000 | Fungal myositis |
| 2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome |
| 2073 | Narcolepsy type 1 |
| 2074 | Gemignani syndrome |
| 2075 | Genitopalatocardiac syndrome |
| 2077 | German syndrome |
| 2078 | Geroderma osteodysplastica |
| 2083 | Prominent glabella-microcephaly-hypogenitalism syndrome |
| 2084 | Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome |
| 208441 | Bilateral parasagittal parieto-occipital polymicrogyria |
| 208444 | Bilateral frontal polymicrogyria |
| 208447 | Bilateral generalized polymicrogyria |
| 2085 | Glaucoma-sleep apnea syndrome |
| 208513 | Spinocerebellar ataxia type 29 |
| 208524 | Herpetiform pemphigus |
| 2086 | Optic pathway glioma |
| 2088 | Fanconi-Bickel syndrome |
| 2089 | Glycogen storage disease due to hepatic glycogen synthase deficiency |
| 208989 | Non-paraneoplastic sensory ganglionopathy |
| 208999 | Paraneoplastic sensory ganglionopathy |
| 2090 | GMS syndrome |
| 209004 | Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy |
| 2091 | Multinodular goiter-cystic kidney-polydactyly syndrome |
| 2092 | Focal dermal hypoplasia |
| 209335 | Autosomal dominant adult-onset proximal spinal muscular atrophy |
| 209341 | DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy |
| 209370 | Severe neonatal-onset encephalopathy with microcephaly |
| 2095 | Gorlin-Chaudhry-Moss syndrome |
| 2097 | Grant syndrome |
| 2098 | Acromesomelic dysplasia, Grebe type |
| 209867 | Autosomal dominant rhegmatogenous retinal detachment |
| 209902 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency |
| 209905 | Brain-lung-thyroid syndrome |
| 209908 | Isolated childhood apraxia of speech |
| 209916 | Extraskeletal myxoid chondrosarcoma |
| 209919 | Idiopathic copper-associated cirrhosis |
| 209932 | Cone dystrophy with supernormal rod response |
| 209943 | IRVAN syndrome |
| 209951 | Autosomal spastic paraplegia type 18 |
| 209956 | Idiopathic uveal effusion syndrome |
| 209959 | Phacoanaphylactic uveitis |
| 209964 | Solitary rectal ulcer syndrome |
| 209967 | Episodic ataxia type 6 |
| 209970 | Episodic ataxia type 7 |
| 209973 | Benign nocturnal alternating hemiplegia of childhood |
| 209981 | IRIDA syndrome |
| 209989 | Non-papillary transitional cell carcinoma of the bladder |
| 210 | Cyclosporiasis |
| 2101 | Grubben-de Cock-Borghgraef syndrome |
| 210110 | Intermediate osteopetrosis |
| 210115 | Sterile multifocal osteomyelitis with periostitis and pustulosis |
| 210122 | Congenital alveolar capillary dysplasia |
| 210128 | Urocanic aciduria |
| 210133 | Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome |
| 210136 | Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome |
| 210141 | Inherited congenital spastic tetraplegia |
| 210144 | Lethal polymalformative syndrome, Boissel type |
| 210159 | Adult hepatocellular carcinoma |
| 210163 | Congenital lethal myopathy, Compton-North type |
| 2102 | GTP cyclohydrolase I deficiency |
| 210272 | Mal de débarquement |
| 2104 | Dysmorphism-pectus carinatum-joint laxity syndrome |
| 210548 | Macrocephaly-intellectual disability-autism syndrome |
| 210571 | Dystonia 16 |
| 210576 | Congenital temporomandibular joint ankylosis |
| 210584 | Spindle cell hemangioma |
| 2107 | Hall-Riggs syndrome |
| 2108 | Hallermann-Streiff syndrome |
| 2109 | Hallermann-Streiff-like syndrome |
| 211 | Familial cylindromatosis |
| 2110 | Hallux varus-preaxial polysyndactyly syndrome |
| 211017 | Spinocerebellar ataxia type 30 |
| 211067 | Episodic ataxia type 5 |
| 2111 | Cystic hamartoma of lung and kidney |
| 2114 | Hip dysplasia, Beukes type |
| 2115 | Harrod syndrome |
| 2116 | Hartnup disease |
| 2117 | Hartsfield syndrome |
| 2118 | Hawkinsinuria |
| 2119 | HEC syndrome |
| 212 | Cystathioninuria |
| 2122 | Kaposiform hemangioendothelioma |
| 2123 | Diffuse neonatal hemangiomatosis |
| 2126 | Solitary fibrous tumor |
| 2128 | Isolated hemihyperplasia |
| 213 | Cystinosis |
| 2131 | Alternating hemiplegia of childhood |
| 2132 | Hemoglobin C disease |
| 2133 | Hemoglobin E disease |
| 2134 | Atypical hemolytic uremic syndrome |
| 2135 | Hennekam-Beemer syndrome |
| 213504 | Adenocarcinoma of ovary |
| 213512 | Malignant mixed Müllerian tumor of the ovary |
| 213528 | Rare adenocarcinoma of the breast |
| 213531 | Metaplastic carcinoma of the breast |
| 213557 | Salivary gland type cancer of the breast |
| 2136 | Hennekam syndrome |
| 213600 | Adenosarcoma of the corpus uteri |
| 213605 | Carcinofibroma of the corpus uteri |
| 213610 | Carcinosarcoma of the corpus uteri |
| 213615 | Rhabdomyosarcoma of the corpus uteri |
| 213625 | Leiomyosarcoma of the corpus uteri |
| 213630 | Primitive neuroectodermal tumor of the corpus uteri |
| 2137 | Autoimmune hepatitis |
| 213711 | Endometrial stromal sarcoma |
| 213716 | Squamous cell carcinoma of the corpus uteri |
| 213721 | Undifferentiated carcinoma of the corpus uteri |
| 213726 | Serous carcinoma of the corpus uteri |
| 213731 | High-grade neuroendocrine carcinoma of the corpus uteri |
| 213736 | Low-grade neuroendocrine tumor of the corpus uteri |
| 213746 | Transitional cell carcinoma of the corpus uteri |
| 213751 | Malignant germ cell tumor of the corpus uteri |
| 213767 | Squamous cell carcinoma of the cervix uteri |
| 213772 | Adenocarcinoma of the cervix uteri |
| 213777 | High-grade neuroendocrine carcinoma of the cervix uteri |
| 213787 | Carcinosarcoma of the cervix uteri |
| 213792 | Adenosarcoma of the cervix uteri |
| 2138 | 46,XX ovotesticular difference of sex development |
| 213802 | Rhabdomyosarcoma of the cervix uteri |
| 213807 | Leiomyosarcoma of the cervix uteri |
| 213812 | Primitive neuroectodermal tumor of the cervix uteri |
| 213823 | Adenoid cystic carcinoma of the cervix uteri |
| 213828 | Adenoid basal carcinoma of the cervix uteri |
| 213833 | Glassy cell carcinoma of the cervix uteri |
| 213837 | Malignant germ cell tumor of the cervix uteri |
| 2139 | Hernández-Aguirre Negrete syndrome |
| 214 | Cystinuria |
| 2140 | Congenital diaphragmatic hernia |
| 2141 | Diaphragmatic defect-limb deficiency-skull defect syndrome |
| 2143 | Donnai-Barrow syndrome |
| 2145 | Craniosynostosis, Herrmann-Opitz type |
| 2148 | Lissencephaly type 1 due to doublecortin gene mutation |
| 2149 | Nodular neuronal heterotopia |
| 215 | Congenital stationary night blindness |
| 2150 | Hirschsprung disease-type D brachydactyly syndrome |
| 2151 | Hirschsprung disease-ganglioneuroblastoma syndrome |
| 2152 | Mowat-Wilson syndrome |
| 2153 | Hirschsprung disease-nail hypoplasia-dysmorphism syndrome |
| 2155 | Hirschsprung disease-deafness-polydactyly syndrome |
| 2157 | Histidinemia |
| 2158 | Histidinuria-renal tubular defect syndrome |
| 2162 | Holoprosencephaly |
| 2163 | Holoprosencephaly-craniosynostosis syndrome |
| 2165 | Holoprosencephaly-caudal dysgenesis syndrome |
| 2166 | Holoprosencephaly-postaxial polydactyly syndrome |
| 216694 | Congenitally corrected transposition of the great arteries |
| 2167 | Holzgreve syndrome |
| 216718 | Isolated congenitally uncorrected transposition of the great arteries |
| 216729 | Congenitally uncorrected transposition of the great arteries with cardiac malformation |
| 216796 | Osteogenesis imperfecta type 1 |
| 216804 | Osteogenesis imperfecta type 2 |
| 216812 | Osteogenesis imperfecta type 3 |
| 216820 | Osteogenesis imperfecta type 4 |
| 216828 | Osteogenesis imperfecta type 5 |
| 216866 | Classic pantothenate kinase-associated neurodegeneration |
| 216873 | Atypical pantothenate kinase-associated neurodegeneration |
| 2169 | Methylcobalamin deficiency type cblE |
| 216972 | Niemann-Pick disease type C, severe perinatal form |
| 216975 | Niemann-Pick disease type C, severe early infantile neurologic onset |
| 216978 | Niemann-Pick disease type C, late infantile neurologic onset |
| 216981 | Niemann-Pick disease type C, juvenile neurologic onset |
| 216986 | Niemann-Pick disease type C, adult neurologic onset |
| 217 | Isolated Dandy-Walker malformation |
| 2170 | Methylcobalamin deficiency type cblG |
| 217008 | Bockenheimer syndrome |
| 217012 | Spinocerebellar ataxia type 31 |
| 217017 | Zechi-Ceide syndrome |
| 217026 | Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type |
| 217055 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type A |
| 217059 | Isolated congenital digital clubbing |
| 217064 | 5-fluorouracil poisoning |
| 217067 | Pouchitis |
| 217080 | Pulmonary fungal infections in patients deemed at risk |
| 217085 | Mucopolysaccharidosis type 2, severe form |
| 217093 | Mucopolysaccharidosis type 2, attenuated form |
| 2172 | Microcephaly-glomerulonephritis-marfanoid habitus syndrome |
| 217253 | NMDA receptor encephalitis |
| 217260 | Progressive multifocal leukoencephalopathy |
| 217266 | BNAR syndrome |
| 217330 | REN-related autosomal dominant tubulointerstitial kidney disease |
| 217335 | RIN2 syndrome |
| 217340 | 17q21.31 microduplication syndrome |
| 217346 | 19q13.11 microdeletion syndrome |
| 217371 | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins |
| 217377 | Microduplication Xp11.22p11.23 syndrome |
| 217382 | Neurodegenerative syndrome due to cerebral folate transport deficiency |
| 217385 | 17p13.3 microduplication syndrome |
| 217390 | Combined immunodeficiency due to DOCK8 deficiency |
| 217396 | Progressive polyneuropathy with bilateral striatal necrosis |
| 217399 | Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation |
| 217407 | Hereditary hypotrichosis with recurrent skin vesicles |
| 217467 | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency |
| 217557 | Pulmonary interstitial glycogenosis |
| 217560 | Neuroendocrine cell hyperplasia of infancy |
| 217563 | Neonatal acute respiratory distress due to SP-B deficiency |
| 217566 | Chronic respiratory distress with surfactant metabolism deficiency |
| 2176 | Infantile systemic hyalinosis |
| 217622 | Sensorineural deafness with dilated cardiomyopathy |
| 217656 | Familial isolated arrhythmogenic right ventricular dysplasia |
| 2177 | Hydranencephaly |
| 218 | Darier disease |
| 2180 | Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome |
| 2181 | Hydrocephaly-tall stature-joint laxity syndrome |
| 2182 | Hydrocephalus with stenosis of the aqueduct of Sylvius |
| 2183 | Hydrocephalus-obesity-hypogonadism syndrome |
| 2184 | Hydrocephaly-low insertion umbilicus syndrome |
| 2185 | Congenital hydrocephalus |
| 2186 | Hydrocephalus-blue sclerae-nephropathy syndrome |
| 2189 | Hydrolethalus |
| 219 | Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 |
| 2194 | Anti-HLA hyperimmunization |
| 2195 | Dicarboxylic aminoaciduria |
| 2196 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement |
| 2197 | Idiopathic hypercalciuria |
| 2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome |
| 2199 | Epidermolytic palmoplantar keratoderma |
| 22 | Succinic semialdehyde dehydrogenase deficiency |
| 220 | Denys-Drash syndrome |
| 2200 | Focal palmoplantar and gingival keratoderma |
| 2201 | Palmoplantar keratoderma-spastic paralysis syndrome |
| 2202 | Palmoplantar keratoderma-deafness syndrome |
| 220295 | Xeroderma pigmentosum-Cockayne syndrome complex |
| 2203 | Hyperlysinemia |
| 220386 | Semilobar holoprosencephaly |
| 220393 | Diffuse cutaneous systemic sclerosis |
| 2204 | Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type |
| 220402 | Limited cutaneous systemic sclerosis |
| 220407 | Limited systemic sclerosis |
| 220436 | Quebec platelet disorder |
| 220443 | Bleeding diathesis due to thromboxane synthesis deficiency |
| 220448 | Macrothrombocytopenia with mitral valve insufficiency |
| 220460 | Attenuated familial adenomatous polyposis |
| 220465 | Laron syndrome with immunodeficiency |
| 220493 | Joubert syndrome with ocular defect |
| 220497 | Joubert syndrome with renal defect |
| 2206 | Ankylosing vertebral hyperostosis with tylosis |
| 2209 | Maternal phenylketonuria |
| 221 | Dermatomyositis |
| 221008 | Rothmund-Thomson syndrome type 1 |
| 221016 | Rothmund-Thomson syndrome type 2 |
| 221039 | Hereditary sclerosing poikiloderma, Weary type |
| 221043 | Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome |
| 221046 | Poikiloderma with neutropenia |
| 221054 | Acrocephalopolydactyly |
| 221061 | Familial cerebral cavernous malformation |
| 221074 | Marchiafava-Bignami disease |
| 221078 | Combined hyperactive dysfunction syndrome of the cranial nerves |
| 221083 | Hemifacial spasm |
| 221091 | Trigeminal neuralgia |
| 221098 | Glossopharyngeal neuralgia |
| 2211 | Hypertelorism-hypospadias-polysyndactyly syndrome |
| 221117 | Gerstmann syndrome |
| 221120 | Pseudoaminopterin syndrome |
| 221126 | Fowler vasculopathy |
| 221139 | Combined immunodeficiency with facio-oculo-skeletal anomalies |
| 221142 | Confetti-like macular atrophy |
| 221145 | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies |
| 2213 | Hypertelorism-microtia-facial clefting syndrome |
| 2215 | Multiple pterygium-malignant hyperthermia syndrome |
| 2216 | Maternal hyperthermia-induced birth defects |
| 2218 | Cervical hypertrichosis-peripheral neuropathy syndrome |
| 222 | Erosive pustular dermatosis of the scalp |
| 2220 | Hypertrichosis cubiti |
| 2221 | Acquired hypertrichosis lanuginosa |
| 2222 | Hypertrichosis lanuginosa congenita |
| 2224 | Hypertryptophanemia |
| 2228 | Hypodontia-dysplasia of nails syndrome |
| 2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome |
| 223 | Nephrogenic diabetes insipidus |
| 2230 | Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome |
| 2232 | Primary hypergonadotropic hypogonadism-partial alopecia syndrome |
| 2233 | Hypogonadism-mitral valve prolapse-intellectual disability syndrome |
| 2234 | Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome |
| 2235 | Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome |
| 2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome |
| 2238 | Familial isolated hypoparathyroidism |
| 2239 | Familial isolated hypoparathyroidism due to agenesis of parathyroid gland |
| 2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome |
| 2246 | Cerebellar hypoplasia-tapetoretinal degeneration syndrome |
| 2248 | Hypoplastic left heart syndrome |
| 2249 | Ulna hypoplasia-intellectual disability syndrome |
| 225 | Maternally-inherited diabetes and deafness |
| 2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome |
| 2251 | Thumb deformity-alopecia-pigmentation anomaly syndrome |
| 225123 | TFR2-related hemochromatosis |
| 225147 | Sporadic infantile bilateral striatal necrosis |
| 225154 | Familial infantile bilateral striatal necrosis |
| 2252 | Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome |
| 2253 | Foveal hypoplasia-presenile cataract syndrome |
| 2254 | Pontocerebellar hypoplasia type 1 |
| 2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| 2256 | Fibulo-ulnar hypoplasia-renal anomalies syndrome |
| 2257 | Primary pulmonary hypoplasia |
| 226 | Dihydropteridine reductase deficiency |
| 2260 | Oligomeganephronia |
| 2261 | Hypospadias-intellectual disability, Goldblatt type syndrome |
| 226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function |
| 226313 | Congenital hypothyroidism due to maternal intake of antithyroid drugs |
| 226316 | Genetic transient congenital hypothyroidism |
| 2266 | Hypotrichosis-intellectual disability, Lopes type |
| 2268 | ICF syndrome |
| 2269 | Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome |
| 227 | Diphallia |
| 2271 | Congenital ichthyosis-microcephalus-tetraplegia syndrome |
| 2272 | Ichthyosis-oral and digital anomalies syndrome |
| 2273 | Ichthyosis follicularis-alopecia-photophobia syndrome |
| 2274 | Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome |
| 227510 | Multiple system atrophy, cerebellar type |
| 227535 | Hereditary breast cancer |
| 227796 | Fundus albipunctatus |
| 2278 | Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome |
| 227972 | Toxic oil syndrome |
| 227976 | Autosomal recessive optic atrophy, OPA7 type |
| 227982 | Autoimmune polyendocrinopathy type 3 |
| 227990 | Autoimmune polyendocrinopathy type 4 |
| 228000 | Idiopathic CD4 lymphocytopenia |
| 228003 | Severe combined immunodeficiency due to CORO1A deficiency |
| 228012 | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome |
| 228113 | Anal fistula |
| 228116 | Hughes-Stovin syndrome |
| 228119 | Fusariosis |
| 228123 | Coccidioidomycosis |
| 228140 | Idiopathic ventricular fibrillation, non Brugada type |
| 228157 | Marburg acute multiple sclerosis |
| 228165 | Baló concentric sclerosis |
| 228169 | Autosomal dominant striatal neurodegeneration |
| 228174 | Autosomal dominant Charcot-Marie-Tooth disease type 2N |
| 228179 | Autosomal dominant Charcot-Marie-Tooth disease type 2M |
| 228190 | Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome |
| 2282 | Dysmorphism-short stature-deafness-difference of sex development syndrome |
| 228227 | Late-onset focal dermal elastosis |
| 228236 | Linear focal elastosis |
| 228240 | Elastoderma |
| 228243 | Elastofibroma dorsi |
| 228247 | Acquired pseudoxanthoma elasticum |
| 228254 | Elastoma |
| 228264 | Papular elastorrhexis |
| 228272 | Primary anetoderma |
| 228277 | Familial anetoderma |
| 228285 | Acquired cutis laxa |
| 228290 | White fibrous papulosis of the neck |
| 228293 | Pseudoxanthoma elasticum-like papillary dermal elastolysis |
| 228299 | Mid-dermal elastolysis |
| 228302 | Carnitine palmitoyl transferase II deficiency, myopathic form |
| 228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form |
| 228308 | Carnitine palmitoyl transferase II deficiency, neonatal form |
| 228329 | CLN1 disease |
| 228337 | CLN10 disease |
| 228340 | CLN4A disease |
| 228343 | CLN4B disease |
| 228346 | CLN3 disease |
| 228349 | CLN2 disease |
| 228354 | CLN8 disease |
| 228357 | CLN9 disease |
| 228360 | CLN5 disease |
| 228363 | CLN6 disease |
| 228366 | CLN7 disease |
| 228371 | Foodborne botulism |
| 228374 | Charcot-Marie-Tooth disease type 2B5 |
| 228379 | Virus-associated trichodysplasia spinulosa |
| 228384 | 5q14.3 microdeletion syndrome |
| 228387 | Spondylo-megaepiphyseal-metaphyseal dysplasia |
| 228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome |
| 228396 | Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome |
| 228399 | 8q12 microduplication syndrome |
| 228402 | 2q23.1 microdeletion syndrome |
| 228410 | Polyvalvular heart disease syndrome |
| 228415 | 5q35 microduplication syndrome |
| 228423 | Monocytopenia with susceptibility to infections |
| 228426 | Syndromic multisystem autoimmune disease due to Itch deficiency |
| 2285 | Primary basilar invagination |
| 2287 | Fused mandibular incisors |
| 2289 | Neuronal intranuclear inclusion disease |
| 229 | Familial aortic dissection |
| 2290 | Microvillus inclusion disease |
| 2291 | Congenital velopharyngeal incompetence |
| 2295 | Familial articular hypermobility syndrome |
| 2297 | Insulin-resistance syndrome type A |
| 229717 | Isolated agammaglobulinemia |
| 2298 | Insulin-resistance syndrome type B |
| 2299 | Aortic arch interruption |
| 23 | Argininosuccinic aciduria |
| 230 | Dopamine beta-hydroxylase deficiency |
| 2300 | Multiple intestinal atresia |
| 2301 | Congenital short bowel syndrome |
| 2302 | Asbestos intoxication |
| 2305 | Isotretinoin syndrome |
| 2306 | Isotretinoin-like syndrome |
| 2307 | IVIC syndrome |
| 2308 | Jacobsen syndrome |
| 230800 | Toxin-mediated infectious botulism |
| 230839 | Classical-like Ehlers-Danlos syndrome type 1 |
| 230851 | Cardiac-valvular Ehlers-Danlos syndrome |
| 230857 | Ehlers-Danlos/osteogenesis imperfecta syndrome |
| 2309 | Pachyonychia congenita |
| 231 | Dracunculiasis |
| 2310 | Absence deformity of leg-cataract syndrome |
| 231013 | Congenital trigeminal anesthesia |
| 231031 | Erythema palmare hereditarium |
| 231040 | Familial generalized lentiginosis |
| 231080 | High-grade dysplasia in patients with Barrett esophagus |
| 2311 | Autosomal recessive spondylocostal dysostosis |
| 231108 | Rhabdoid tumor predisposition syndrome |
| 231111 | Drug-induced lupus erythematosus |
| 231117 | Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 |
| 231120 | Beckwith-Wiedemann syndrome due to CDKN1C mutation |
| 231127 | Beckwith-Wiedemann syndrome due to 11p15 microdeletion |
| 231130 | Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion |
| 231137 | Silver-Russell syndrome due to 7p11.2p13 microduplication |
| 231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 |
| 231144 | Silver-Russell syndrome due to 11p15 microduplication |
| 231147 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 |
| 231154 | Combined immunodeficiency due to partial RAG1 deficiency |
| 231160 | Familial cerebral saccular aneurysm |
| 231169 | Usher syndrome type 1 |
| 231178 | Usher syndrome type 2 |
| 231183 | Usher syndrome type 3 |
| 2312 | Transient familial neonatal hyperbilirubinemia |
| 231214 | Beta-thalassemia major |
| 231222 | Beta-thalassemia intermedia |
| 231226 | Dominant beta-thalassemia |
| 231237 | Delta-beta-thalassemia |
| 231242 | Hemoglobin C-beta-thalassemia syndrome |
| 231249 | Hemoglobin E-beta-thalassemia syndrome |
| 231393 | Beta-thalassemia-X-linked thrombocytopenia syndrome |
| 2314 | Autosomal dominant hyper-IgE syndrome |
| 231401 | Alpha-thalassemia-myelodysplastic syndrome |
| 231426 | Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome |
| 231445 | Paraparetic variant of Guillain-Barré syndrome |
| 231450 | Acute pure sensory neuropathy |
| 231457 | Acute pandysautonomia |
| 231466 | Acute sensory ataxic neuropathy |
| 2315 | Johanson-Blizzard syndrome |
| 231500 | Hermansky-Pudlak syndrome due to BLOC-3 deficiency |
| 231512 | Hermansky-Pudlak syndrome due to BLOC-2 deficiency |
| 231531 | Hermansky-Pudlak syndrome due to BLOC-1 deficiency |
| 231556 | Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome |
| 231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa |
| 231573 | Congenital erosive and vesicular dermatosis |
| 231580 | Primary unilateral adrenal hyperplasia |
| 2316 | Johnson neuroectodermal syndrome |
| 231625 | Adrenocortical carcinoma with pure aldosterone hypersecretion |
| 231632 | Ectopic aldosterone-producing tumor |
| 231662 | Isolated growth hormone deficiency type IA |
| 231671 | Isolated growth hormone deficiency type IB |
| 231679 | Isolated growth hormone deficiency type II |
| 231692 | Isolated growth hormone deficiency type III |
| 231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome |
| 231736 | Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome |
| 231742 | Epibulbar lipodermoid-preauricular appendage-polythelia syndrome |
| 2318 | Joubert syndrome with oculorenal defect |
| 2319 | Juberg-Hayward syndrome |
| 232 | Sickle cell anemia |
| 2321 | Jung syndrome |
| 2322 | Kabuki syndrome |
| 2323 | Sanjad-Sakati syndrome |
| 2324 | Osteopenia-intellectual disability-sparse hair syndrome |
| 2325 | Epidermolysis bullosa simplex with anodontia/hypodontia |
| 2326 | Kallmann syndrome-heart disease syndrome |
| 2328 | Kapur-Toriello syndrome |
| 2329 | Karsch-Neugebauer syndrome |
| 233 | Duane retraction syndrome |
| 2330 | Kasabach-Merritt syndrome |
| 2331 | Kawasaki disease |
| 2332 | KBG syndrome |
| 2333 | Kenny-Caffey syndrome |
| 2334 | Autosomal dominant keratitis |
| 2337 | Non-epidermolytic palmoplantar keratoderma |
| 2339 | Keratosis follicularis-dwarfism-cerebral atrophy syndrome |
| 234 | Dubin-Johnson syndrome |
| 2340 | Keratosis follicularis spinulosa decalvans |
| 2342 | Haim-Munk syndrome |
| 2345 | Isolated Klippel-Feil syndrome |
| 2347 | Lethal Kniest-like dysplasia |
| 2348 | Familial partial lipodystrophy, Dunnigan type |
| 2349 | Muscular pseudohypertrophy-hypothyroidism syndrome |
| 235 | Dubowitz syndrome |
| 2351 | Kousseff syndrome |
| 2353 | Schilbach-Rott syndrome |
| 2356 | Arachnoid cyst |
| 2357 | Bronchogenic cyst |
| 236 | Trisomy 9p |
| 2363 | Lacrimoauriculodentodigital syndrome |
| 2364 | Glycogen storage disease due to lactate dehydrogenase deficiency |
| 2368 | Gastroschisis |
| 2369 | Limb body wall complex |
| 237 | Duplication of urethra |
| 2370 | Larsen-like osseous dysplasia-short stature syndrome |
| 2371 | Lethal Larsen-like syndrome |
| 2372 | Laryngocele |
| 2373 | Congenital laryngomalacia |
| 2374 | Congenital laryngeal web |
| 2375 | Laryngeal abductor paralysis-intellectual disability syndrome |
| 2377 | Laurence-Moon syndrome |
| 2378 | Laurin-Sandrow syndrome |
| 2379 | Early-onset parkinsonism-intellectual disability syndrome |
| 238 | Digestive duplication |
| 2380 | Legg-Calvé-Perthes disease |
| 2382 | Lennox-Gastaut syndrome |
| 238269 | AApoAII amyloidosis |
| 238305 | Infundibulo-neurohypophysitis |
| 238329 | Severe X-linked mitochondrial encephalomyopathy |
| 238446 | 15q11q13 microduplication syndrome |
| 238455 | Infantile dystonia-parkinsonism |
| 238459 | SLC35A1-CDG |
| 238468 | Hypohidrotic ectodermal dysplasia |
| 238475 | Familial hypercholanemia |
| 238505 | Combined immunodeficiency due to CD27 deficiency |
| 238523 | Atypical hypotonia-cystinuria syndrome |
| 238557 | Chuvash erythrocytosis |
| 238569 | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome |
| 238578 | Familial clubfoot due to 17q23.1q23.2 microduplication |
| 238583 | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency |
| 238593 | IgG4-related mesenteritis |
| 2386 | Leukoencephalopathy-palmoplantar keratoderma syndrome |
| 238606 | Primary orthostatic tremor |
| 238613 | Beckwith-Wiedemann syndrome due to NSD1 mutation |
| 238621 | Ileal pouch anal anastomosis related faecal incontinence |
| 238624 | Idiopathic intracranial hypertension |
| 238637 | Megacystis-megaureter syndrome |
| 238642 | Primary megaureter, adult-onset form |
| 238646 | Congenital primary megaureter, obstructed form |
| 238650 | Congenital primary megaureter, refluxing form |
| 238654 | Congenital primary megaureter, nonrefluxing and unobstructed form |
| 238666 | Isolated congenital hypogonadotropic hypogonadism |
| 238670 | Isolated thyrotropin-releasing hormone deficiency |
| 238688 | Neonatal iodine exposure |
| 2387 | Leukonychia totalis |
| 238722 | Familial congenital mirror movements |
| 238744 | Mammary-digital-nail syndrome |
| 238750 | 4q21 microdeletion syndrome |
| 238763 | Glaucoma secondary to spherophakia/ectopia lentis and megalocornea |
| 238769 | 1q44 microdeletion syndrome |
| 2388 | Choreoacanthocytosis |
| 239 | Dyggve-Melchior-Clausen disease |
| 2390 | Lichtenstein syndrome |
| 2391 | Congenitally short costocoracoid ligament |
| 2394 | Pyruvate dehydrogenase E3 deficiency |
| 2396 | Encephalocraniocutaneous lipomatosis |
| 2398 | Multiple symmetric lipomatosis |
| 2399 | Nasopalpebral lipoma-coloboma syndrome |
| 24 | Fumaric aciduria |
| 240 | Léri-Weill dyschondrosteosis |
| 2400 | Peripheral motor neuropathy-dysautonomia syndrome |
| 240071 | Classic progressive supranuclear palsy syndrome |
| 240085 | Progressive supranuclear palsy-parkinsonism syndrome |
| 240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome |
| 240103 | Progressive supranuclear palsy-corticobasal syndrome |
| 240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome |
| 2404 | Loiasis |
| 2405 | Thickened earlobes-conductive deafness syndrome |
| 2406 | Locked-in syndrome |
| 2407 | Laryngo-onycho-cutaneous syndrome |
| 240760 | Nijmegen breakage syndrome-like disorder |
| 2408 | Lowe-Kohn-Cohen syndrome |
| 2409 | Lowry-MacLean syndrome |
| 241 | Dyschromatosis universalis hereditaria |
| 2410 | Hypergonadotropic hypogonadism-cataract syndrome |
| 2412 | Dislocation of the hip-dysmorphism syndrome |
| 2414 | Congenital pulmonary lymphangiectasia |
| 242 | 46,XY complete gonadal dysgenesis |
| 2420 | Primary pulmonary lymphoma |
| 2427 | Macrocephaly-short stature-paraplegia syndrome |
| 2429 | Macrocephaly-spastic paraplegia-dysmorphism syndrome |
| 243 | 46,XX gonadal dysgenesis |
| 2430 | Congenital macroglossia |
| 2432 | Macrosomia-microphthalmia-cleft palate syndrome |
| 243343 | Dimethylglycine dehydrogenase deficiency |
| 243367 | Acute fatty liver of pregnancy |
| 2435 | Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome |
| 2437 | Czeizel-Losonci syndrome |
| 2438 | Hand-foot-genital syndrome |
| 2439 | Patterson-Stevenson-Fontaine syndrome |
| 244 | Primary ciliary dyskinesia |
| 2440 | Isolated split hand-split foot malformation |
| 244242 | HELLP syndrome |
| 244275 | De novo thrombotic microangiopathy after kidney transplantation |
| 244283 | Biliary atresia with splenic malformation syndrome |
| 244305 | Dominant hypophosphatemia with nephrolithiasis or osteoporosis |
| 244310 | RFT1-CDG |
| 2444 | Congenital pulmonary airway malformation |
| 245 | Nager syndrome |
| 2451 | Mucocutaneous venous malformations |
| 2456 | Familial supernumerary nipples |
| 2457 | Mandibuloacral dysplasia |
| 2459 | Mansonelliasis |
| 246 | Postaxial acrofacial dysostosis |
| 2460 | Van den Ende-Gupta syndrome |
| 2461 | Marden-Walker syndrome |
| 2462 | Shprintzen-Goldberg syndrome |
| 2463 | Marfanoid habitus-autosomal recessive intellectual disability syndrome |
| 2464 | Marfanoid syndrome, De Silva type |
| 2466 | MASA syndrome |
| 2470 | Matthew-Wood syndrome |
| 2471 | McDonough syndrome |
| 247165 | Infantile mercury poisoning |
| 247198 | Progressive cerebello-cerebral atrophy |
| 247203 | Collecting duct carcinoma |
| 247234 | Sporadic adult-onset ataxia of unknown etiology |
| 247245 | Superficial siderosis |
| 247257 | Inhalational anthrax |
| 247262 | Hyperphosphatasia-intellectual disability syndrome |
| 2473 | McKusick-Kaufman syndrome |
| 247353 | Generalized pustular psoriasis |
| 247378 | Autosomal recessive secondary polycythemia not associated with VHL gene |
| 2475 | White forelock with malformations |
| 247511 | Autosomal dominant secondary polycythemia |
| 247522 | Primary ciliary dyskinesia-retinitis pigmentosa syndrome |
| 247525 | Citrullinemia type I |
| 247546 | Acute neonatal citrullinemia type I |
| 247573 | Late-onset citrullinemia type I |
| 247585 | Citrullinemia type II |
| 247598 | Neonatal intrahepatic cholestasis due to citrin deficiency |
| 2476 | Dysraphism-cleft lip/palate-limb reduction defects syndrome |
| 247604 | Juvenile primary lateral sclerosis |
| 247623 | Perinatal lethal hypophosphatasia |
| 247638 | Prenatal benign hypophosphatasia |
| 247651 | Infantile hypophosphatasia |
| 247667 | Childhood-onset hypophosphatasia |
| 247676 | Adult hypophosphatasia |
| 247685 | Odontohypophosphatasia |
| 247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
| 247698 | Multiple endocrine neoplasia type 2A |
| 2477 | Megalencephaly |
| 247709 | Multiple endocrine neoplasia type 2B |
| 247718 | Inflammatory myopathy with abundant macrophages |
| 247724 | Idiopathic eosinophilic myositis |
| 247762 | Lipoblastoma |
| 247768 | Müllerian aplasia and hyperandrogenism |
| 247775 | Mayer-Rokitansky-Küster-Hauser syndrome type 1 |
| 247790 | FTH1-related iron overload |
| 247794 | Juvenile cataract-microcornea-renal glucosuria syndrome |
| 247798 | MUTYH-related attenuated familial adenomatous polyposis |
| 2478 | Megalencephalic leukoencephalopathy with subcortical cysts |
| 247806 | APC-related attenuated familial adenomatous polyposis |
| 247815 | Autosomal recessive ataxia due to PEX10 deficiency |
| 247820 | Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome |
| 247827 | Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome |
| 247834 | Occult macular dystrophy |
| 247868 | NLRP12-associated hereditary periodic fever syndrome |
| 2479 | Megalocornea-intellectual disability syndrome |
| 248 | Autosomal recessive hypohidrotic ectodermal dysplasia |
| 2481 | Neurocutaneous melanocytosis |
| 248111 | Juvenile Huntington disease |
| 2482 | Melhem-Fahl syndrome |
| 2483 | Melkersson-Rosenthal syndrome |
| 248340 | Isolated delta-storage pool disease |
| 2484 | Melnick-Needles syndrome |
| 248408 | Familial hypodysfibrinogenemia |
| 2485 | Melorheostosis |
| 2487 | Lower limb malformation-hypospadias syndrome |
| 2489 | Upper limb defect-eye and ear abnormalities syndrome |
| 249 | Fibrous dysplasia of bone |
| 2491 | Müllerian duct anomalies-limb anomalies syndrome |
| 2492 | FATCO syndrome |
| 2494 | Ménétrier disease |
| 2495 | Meningioma |
| 2496 | Mesomelia-synostoses syndrome |
| 2497 | Upper limb mesomelic dysplasia |
| 2498 | Syndactyly type 8 |
| 2499 | Metachondromatosis |
| 25 | Glutaryl-CoA dehydrogenase deficiency |
| 2500 | Acrogeria |
| 2501 | Metaphyseal chondrodysplasia, Spahr type |
| 2502 | Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome |
| 2504 | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome |
| 2505 | Multiple benign circumferential skin creases on limbs |
| 2508 | Corpus callosum agenesis-abnormal genitalia syndrome |
| 250831 | Logopenic progressive aphasia |
| 250923 | Isolated aniridia |
| 250932 | Autosomal dominant optic atrophy and peripheral neuropathy |
| 250972 | Polymicrogyria with optic nerve hypoplasia |
| 250977 | AICA-ribosiduria |
| 250984 | Autosomal recessive Stickler syndrome |
| 250989 | 1q21.1 microdeletion syndrome |
| 250994 | 1q21.1 microduplication syndrome |
| 250999 | 1q41q42 microdeletion syndrome |
| 2510 | Micro syndrome |
| 251004 | Paternal uniparental disomy of chromosome 1 |
| 251009 | Maternal uniparental disomy of chromosome 1 |
| 251014 | 2q31.1 microdeletion syndrome |
| 251019 | 2q32q33 microdeletion syndrome |
| 251028 | SATB2-associated syndrome due to a chromosomal rearrangement |
| 251038 | 3q29 microduplication syndrome |
| 251043 | Ring chromosome 5 syndrome |
| 251046 | 6p22 microdeletion syndrome |
| 251056 | 6q25 microdeletion syndrome |
| 251061 | 7q31 microdeletion syndrome |
| 251066 | 8p11.2 deletion syndrome |
| 251071 | 8p23.1 microdeletion syndrome |
| 251076 | 8p23.1 duplication syndrome |
| 2511 | Microbrachycephaly-ptosis-cleft lip syndrome |
| 2512 | Autosomal recessive primary microcephaly |
| 251262 | Familial osteochondritis dissecans |
| 251274 | Familial hyperaldosteronism type III |
| 251279 | Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome |
| 251282 | Autosomal dominant spastic ataxia type 1 |
| 251287 | Benign concentric annular macular dystrophy |
| 251290 | Parietal foramina with clavicular hypoplasia |
| 251295 | Pigmented paravenous retinochoroidal atrophy |
| 2513 | Microcephaly-albinism-digital anomalies syndrome |
| 251304 | Infantile onset panniculitis with uveitis and systemic granulomatosis |
| 251307 | Idiopathic recurrent pericarditis |
| 251325 | Drug-induced vasculitis |
| 251328 | Unclassified vasculitis |
| 251332 | Unexplained long-lasting fever/inflammatory syndrome |
| 251347 | Ataxia-telangiectasia-like disorder |
| 251359 | Sickle cell-beta-thalassemia disease syndrome |
| 251365 | Sickle cell-hemoglobin C disease syndrome |
| 251370 | Sickle cell-hemoglobin D disease syndrome |
| 251375 | Sickle cell-hemoglobin E disease syndrome |
| 251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome |
| 251383 | CK syndrome |
| 251393 | Localized junctional epidermolysis bullosa |
| 2514 | Autosomal dominant primary microcephaly |
| 2515 | Microcephaly-cardiomyopathy syndrome |
| 251510 | 46,XY partial gonadal dysgenesis |
| 251515 | Distal arthrogryposis type 10 |
| 251523 | Hyperzincemia and hypercalprotectinemia |
| 251576 | Gliosarcoma |
| 251579 | Giant cell glioblastoma |
| 251582 | Gliomatosis cerebri |
| 251589 | Anaplastic astrocytoma |
| 251595 | Diffuse astrocytoma |
| 251598 | Protoplasmic astrocytoma |
| 2516 | Microcephaly-cardiac defect-lung malsegmentation syndrome |
| 251601 | Fibrillary astrocytoma |
| 251604 | Gemistocytic astrocytoma |
| 251607 | Pleomorphic xanthoastrocytoma |
| 251612 | Pilocytic astrocytoma |
| 251615 | Pilomyxoid astrocytoma |
| 251618 | Subependymal giant cell astrocytoma |
| 251623 | Pituicytoma |
| 251627 | Oligodendroglioma |
| 251630 | Anaplastic oligodendroglioma |
| 251636 | Ependymoma |
| 251639 | Subependymoma |
| 251643 | Myxopapillary ependymoma |
| 251646 | Anaplastic ependymoma |
| 251656 | Oligoastrocytoma |
| 251663 | Anaplastic oligoastrocytoma |
| 251671 | Angiocentric glioma |
| 251674 | Chordoid glioma |
| 251679 | Astroblastoma |
| 2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome |
| 251855 | Anaplastic/large cell medulloblastoma |
| 251858 | Medulloblastoma with extensive nodularity |
| 251863 | Desmoplastic/nodular medulloblastoma |
| 251867 | Classic medulloblastoma |
| 251877 | Ganglioneuroblastoma |
| 251880 | Ependymoblastoma |
| 251883 | Medulloepithelioma of the central nervous system |
| 251899 | Choroid plexus carcinoma |
| 2519 | Microcephaly-seizures-intellectual disability-heart disease syndrome |
| 251902 | Atypical papilloma of choroid plexus |
| 251909 | Pineoblastoma |
| 251912 | Pineocytoma |
| 251915 | Papillary tumor of the pineal region |
| 251919 | Pineal parenchymal tumor of intermediate differenciation |
| 251927 | Extraventricular neurocytoma |
| 251931 | Cerebellar liponeurocytoma |
| 251937 | Gangliocytoma |
| 251940 | Desmoplastic infantile astrocytoma/ganglioglioma |
| 251946 | Dysembryoplastic neuroepithelial tumor |
| 251949 | Ganglioglioma |
| 251957 | Anaplastic ganglioglioma |
| 251962 | Papillary glioneuronal tumor |
| 251975 | Rosette-forming glioneuronal tumor |
| 251992 | Ganglioneuroma |
| 252006 | Yolk sac tumor of central nervous system |
| 252015 | Choriocarcinoma of the central nervous system |
| 252018 | Teratoma of the central nervous system |
| 252021 | Mixed germ cell tumor of central nervous system |
| 252031 | Diffuse leptomeningeal melanocytosis |
| 252046 | Meningeal melanocytoma |
| 252050 | Primary melanoma of the central nervous system |
| 252054 | Hemangioblastoma |
| 2521 | Microcephaly-cleft palate-abnormal retinal pigmentation syndrome |
| 252128 | Malignant peripheral nerve sheath tumor with perineurial differentiation |
| 252164 | Benign schwannoma |
| 252175 | Vestibular schwannoma |
| 252183 | Neurofibroma |
| 2522 | Microcephaly-cervical spine fusion anomalies syndrome |
| 252202 | Constitutional mismatch repair deficiency syndrome |
| 252206 | Melanoma and neural system tumor syndrome |
| 252212 | Malignant triton tumor |
| 2523 | Microcephaly-brain defect-spasticity-hypernatremia syndrome |
| 2524 | Pontocerebellar hypoplasia type 2 |
| 2526 | Microcephaly-lymphedema-chorioretinopathy syndrome |
| 2528 | Microcephaly-microcornea syndrome, Seemanova type |
| 2533 | Microcephaly-deafness-intellectual disability syndrome |
| 2536 | Microcornea-glaucoma-absent frontal sinuses syndrome |
| 2538 | Microgastria-limb reduction defect syndrome |
| 254334 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type B |
| 254343 | Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome |
| 254346 | 19p13.12 microdeletion syndrome |
| 254351 | Distal 7q11.23 microdeletion syndrome |
| 254361 | Plectin-related limb-girdle muscular dystrophy R17 |
| 254379 | Linear lichen planus |
| 254395 | Actinic lichen planus |
| 254411 | Annular atrophic lichen planus |
| 254424 | Annular lichen planus |
| 254449 | Atrophic lichen planus |
| 254463 | Lichen planus pigmentosus |
| 254478 | Lichen planus pemphigoides |
| 254492 | Frontal fibrosing alopecia |
| 254504 | Inhalational botulism |
| 254509 | Iatrogenic botulism |
| 254516 | Temple syndrome |
| 254519 | Kagami-Ogata syndrome |
| 254525 | Temple syndrome due to paternal 14q32.2 microdeletion |
| 254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion |
| 254531 | Temple syndrome due to paternal 14q32.2 hypomethylation |
| 254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation |
| 254688 | Complete hydatidiform mole |
| 254693 | Partial hydatidiform mole |
| 254698 | Epithelioid trophoblastic tumor |
| 2547 | Microphthalmia-microtia-fetal akinesia syndrome |
| 254704 | Genetic hyperferritinemia without iron overload |
| 254851 | Mitochondrial DNA-related dystonia |
| 254854 | Pure mitochondrial myopathy |
| 254857 | Lethal infantile mitochondrial myopathy |
| 254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency |
| 254875 | Mitochondrial DNA depletion syndrome, myopathic form |
| 254881 | Spinocerebellar ataxia with epilepsy |
| 254886 | Autosomal recessive progressive external ophthalmoplegia |
| 254892 | Autosomal dominant progressive external ophthalmoplegia |
| 254898 | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome |
| 2549 | Oculoauriculovertebral spectrum with radial defects |
| 254902 | Renal tubulopathy-encephalopathy-liver failure syndrome |
| 254905 | Isolated cytochrome C oxidase deficiency |
| 254913 | Isolated ATP synthase deficiency |
| 254920 | Combined oxidative phosphorylation defect type 2 |
| 254925 | Combined oxidative phosphorylation defect type 4 |
| 254930 | Combined oxidative phosphorylation defect type 7 |
| 2551 | Microspherophakia-metaphyseal dysplasia syndrome |
| 255132 | Adult-onset autosomal recessive sideroblastic anemia |
| 255138 | Pyruvate dehydrogenase E1-beta deficiency |
| 255182 | Pyruvate dehydrogenase E3-binding protein deficiency |
| 2552 | Microsporidiosis |
| 255210 | Mitochondrial DNA-associated Leigh syndrome |
| 255229 | Navajo neurohepatopathy |
| 255235 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy |
| 2554 | Ear-patella-short stature syndrome |
| 2556 | Microphthalmia with linear skin defects syndrome |
| 2557 | Mietens syndrome |
| 2558 | Mikati-Najjar-Sahli syndrome |
| 256 | Early-onset generalized limb-onset dystonia |
| 2560 | Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome |
| 2561 | Pyramidal molars-abnormal upper lip syndrome |
| 2563 | MOMO syndrome |
| 2564 | Tetramelic monodactyly |
| 2565 | Mononen-Karnes-Senac syndrome |
| 2566 | Chronic Epstein-Barr virus infection syndrome |
| 257 | Epidermolysis bullosa simplex with muscular dystrophy |
| 2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome |
| 2571 | X-linked immunoneurologic disorder |
| 2572 | Spastic ataxia-corneal dystrophy syndrome |
| 2573 | Moyamoya disease |
| 2574 | Moynahan syndrome |
| 2575 | Cystic fibrosis-gastritis-megaloblastic anemia syndrome |
| 2576 | Mulibrey nanism |
| 2578 | Mayer-Rokitansky-Küster-Hauser syndrome type 2 |
| 2579 | Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome |
| 258 | Laminin subunit alpha 2-related congenital muscular dystrophy |
| 2582 | Myalgia-eosinophilia syndrome associated with tryptophan |
| 2583 | Mycetoma |
| 2584 | Classic mycosis fungoides |
| 2585 | Ataxia-pancytopenia syndrome |
| 2587 | Myeloperoxidase deficiency |
| 2588 | Myhre syndrome |
| 2589 | Myoclonus-cerebellar ataxia-deafness syndrome |
| 2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome |
| 2591 | Infantile myofibromatosis |
| 2593 | Tubular aggregate myopathy |
| 2596 | Myopathy and diabetes mellitus |
| 25968 | Benign occipital epilepsy |
| 2597 | Mitochondrial myopathy-lactic acidosis-deafness syndrome |
| 2598 | Mitochondrial myopathy and sideroblastic anemia |
| 25980 | X-linked myopathy with excessive autophagy |
| 26 | Methylmalonic acidemia with homocystinuria |
| 260305 | Autosomal recessive sideroblastic anemia |
| 2604 | Familial visceral myopathy |
| 2608 | N syndrome |
| 2609 | Isolated complex I deficiency |
| 261 | Emery-Dreifuss muscular dystrophy |
| 26106 | Hereditary diffuse gastric cancer |
| 2611 | Linear verrucous nevus syndrome |
| 261102 | Distal 7q11.23 microduplication syndrome |
| 261112 | Monosomy 9p |
| 261120 | 14q11.2 microdeletion syndrome |
| 261144 | FOXG1 syndrome due to 14q12 microdeletion |
| 261183 | 15q11.2 microdeletion syndrome |
| 261190 | 15q14 microdeletion syndrome |
| 261197 | Proximal 16p11.2 microdeletion syndrome |
| 2612 | Linear nevus sebaceus syndrome |
| 261204 | 16p11.2p12.2 microduplication syndrome |
| 261211 | 16p11.2p12.2 microdeletion syndrome |
| 261222 | Distal 16p11.2 microdeletion syndrome |
| 261229 | 14q11.2 microduplication syndrome |
| 261236 | 16p13.11 microdeletion syndrome |
| 261243 | 16p13.11 microduplication syndrome |
| 261250 | 16q24.3 microdeletion syndrome |
| 261257 | Distal 17p13.3 microdeletion syndrome |
| 261265 | 17q12 microdeletion syndrome |
| 261272 | 17q12 microduplication syndrome |
| 261279 | 17q23.1q23.2 microdeletion syndrome |
| 261290 | Trisomy 17p |
| 261295 | 20p12.3 microdeletion syndrome |
| 2613 | Nail-patella-like renal disease |
| 261304 | Paternal 20q13.2q13.3 microdeletion syndrome |
| 261311 | 20q13.33 microdeletion syndrome |
| 261318 | Trisomy 20p |
| 261323 | 21q22.11q22.12 microdeletion syndrome |
| 261330 | Distal 22q11.2 microdeletion syndrome |
| 261337 | Distal 22q11.2 microduplication syndrome |
| 261344 | Trisomy 1q |
| 261349 | 2p15p16.1 microdeletion syndrome |
| 26137 | Juvenile temporal arteritis |
| 2614 | Nail-patella syndrome |
| 261476 | Xp21 deletion syndrome |
| 261483 | Xq27.3q28 duplication syndrome |
| 261494 | Kleefstra syndrome |
| 261501 | Atypical Norrie disease due to Xp11.3 microdeletion |
| 261519 | Maternal uniparental disomy of chromosome X |
| 261524 | Paternal uniparental disomy of chromosome X |
| 261529 | Ring chromosome Y syndrome |
| 261534 | 49,XXXYY syndrome |
| 261537 | Mowat-Wilson syndrome due to monosomy 2q22 |
| 261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation |
| 261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion |
| 2616 | 3M syndrome |
| 261600 | Alagille syndrome due to 20p12 microdeletion |
| 261619 | Alagille syndrome due to a JAG1 point mutation |
| 261629 | Alagille syndrome due to a NOTCH2 point mutation |
| 261638 | Okihiro syndrome due to 20q13 microdeletion |
| 261647 | Okihiro syndrome due to a point mutation |
| 261652 | Kleefstra syndrome due to a point mutation |
| 2617 | Microcephalic primordial dwarfism, Montreal type |
| 2619 | Brachydactylous dwarfism, Mseleni type |
| 2623 | Geleophysic dysplasia |
| 2631 | Mesomelic dwarfism-cleft palate-camptodactyly syndrome |
| 2632 | Langer mesomelic dysplasia |
| 263297 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency |
| 2633 | Mesomelic dysplasia, Nievergelt type |
| 263310 | Thymoma type A |
| 263317 | Thymoma type B |
| 263324 | Thymoma type AB |
| 263331 | Well-differentiated thymic neuroendocrine carcinoma |
| 263335 | Moderately-differentiated thymic neuroendocrine carcinoma |
| 263339 | Poorly differentiated thymic neuroendocrine carcinoma |
| 263347 | MRCS syndrome |
| 263352 | Postcardiotomy right ventricular failure |
| 2634 | Mesomelic dwarfism, Reinhardt-Pfeiffer type |
| 263410 | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome |
| 263413 | Angiosarcoma |
| 263425 | Nevus of Ota |
| 263432 | Nevus of Ito |
| 263435 | Congenital smooth muscle hamartoma |
| 263455 | Congenital hyperinsulinism due to HNF4A deficiency |
| 263458 | Hyperinsulinism due to INSR deficiency |
| 263463 | CHST3-related skeletal dysplasia |
| 263479 | Fuchs heterochromic iridocyclitis |
| 26348 | Acquired prothrombin deficiency |
| 263482 | Spondyloepiphyseal dysplasia, Maroteaux type |
| 263487 | COG5-CDG |
| 26349 | Protein S acquired deficiency |
| 263494 | DPM3-CDG |
| 2635 | Metatropic dysplasia |
| 263501 | COG4-CDG |
| 263508 | COG1-CDG |
| 263516 | Progressive myoclonic epilepsy type 3 |
| 263524 | Acute necrotizing encephalopathy of childhood |
| 263534 | Acral peeling skin syndrome |
| 263543 | Generalized peeling skin syndrome |
| 263548 | Peeling skin syndrome type A |
| 263553 | Peeling skin syndrome type B |
| 2636 | Microcephalic osteodysplastic primordial dwarfism types I and III |
| 263662 | Familial multiple meningioma |
| 263665 | NK-cell enteropathy |
| 2637 | Microcephalic osteodysplastic primordial dwarfism type II |
| 2639 | Fibular aplasia-complex brachydactyly syndrome |
| 264200 | 14q22q23 microdeletion syndrome |
| 2643 | Microcephalic primordial dwarfism, Toriello type |
| 264450 | Trisomy 8p |
| 2645 | Osteoglosphonic dysplasia |
| 264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency |
| 2646 | Parastremmatic dwarfism |
| 264675 | Hereditary pulmonary alveolar proteinosis |
| 264688 | Congenital chylothorax |
| 264691 | Isolated pulmonary capillaritis |
| 264978 | Drug or radiation exposure-related interstitial lung disease |
| 2653 | Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome |
| 2655 | Thanatophoric dysplasia |
| 2658 | Lenz-Majewski hyperostotic dwarfism |
| 266 | Autosomal dominant limb-girdle muscular dystrophy type 1A |
| 2662 | Keipert syndrome |
| 2663 | Nathalie syndrome |
| 2665 | Congenital mesoblastic nephroma |
| 2666 | Adult familial nephronophthisis-spastic quadriparesia syndrome |
| 2668 | Nephropathy-deafness-hyperparathyroidism syndrome |
| 2669 | Nephrosis-deafness-urinary tract-digital malformations syndrome |
| 267 | Calpain-3-related limb-girdle muscular dystrophy R1 |
| 2670 | Pierson syndrome |
| 2671 | Neu-Laxova syndrome |
| 2672 | Neuhauser-Eichner-Opitz syndrome |
| 2673 | Neurofaciodigitorenal syndrome |
| 2674 | Cyprus facial-neuromusculoskeletal syndrome |
| 2678 | Familial isolated café-au-lait macules |
| 26790 | Pseudomyxoma peritonei |
| 26791 | Multiple acyl-CoA dehydrogenase deficiency |
| 26792 | Short chain acyl-CoA dehydrogenase deficiency |
| 26793 | Very long chain acyl-CoA dehydrogenase deficiency |
| 268 | Dysferlin-related limb-girdle muscular dystrophy R2 |
| 2680 | Hypomyelination neuropathy-arthrogryposis syndrome |
| 268114 | RAS-associated autoimmune leukoproliferative disease |
| 268129 | Spheroid body myopathy |
| 268139 | Intraocular medulloepithelioma |
| 268145 | Classic maple syrup urine disease |
| 268162 | Intermediate maple syrup urine disease |
| 268173 | Intermittent maple syrup urine disease |
| 268184 | Thiamine-responsive maple syrup urine disease |
| 268249 | Mycophenolate mofetil embryopathy |
| 268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
| 268316 | Complication in hemodialysis |
| 268322 | Hereditary thrombocytopenia with normal platelets |
| 268363 | Open iniencephaly |
| 268366 | Closed iniencephaly |
| 2686 | Cyclic neutropenia |
| 2688 | Adult idiopathic neutropenia |
| 268810 | Isolated posterior meningocele |
| 268820 | Cranial meningocele |
| 268823 | Occipital encephalocele |
| 268826 | Parietal encephalocele |
| 268829 | Basal encephalocele |
| 268861 | Primary tethered cord syndrome |
| 268865 | Neurenteric cyst |
| 268868 | Isolated amyelia |
| 268882 | Arnold-Chiari malformation type I |
| 268920 | Isolated megalencephaly |
| 268936 | Isolated arhinencephaly |
| 268940 | Bilateral polymicrogyria |
| 268943 | Unilateral polymicrogyria |
| 268947 | Unilateral focal polymicrogyria |
| 268961 | Isolated focal cortical dysplasia type I |
| 268973 | Isolated focal cortical dysplasia type Ia |
| 268980 | Isolated focal cortical dysplasia type Ib |
| 268987 | Isolated focal cortical dysplasia type Ic |
| 268994 | Isolated focal cortical dysplasia type II |
| 269 | Facioscapulohumeral dystrophy |
| 2690 | Neutropenia-monocytopenia-deafness syndrome |
| 269001 | Isolated focal cortical dysplasia type IIa |
| 269008 | Isolated focal cortical dysplasia type IIb |
| 269197 | Glioependymal/ependymal cyst |
| 269203 | Isolated cerebellar vermis agenesis |
| 269206 | Isolated total cerebellar vermis agenesis |
| 269209 | Isolated partial cerebellar vermis agenesis |
| 269212 | Isolated Dandy-Walker malformation with hydrocephalus |
| 269215 | Isolated Dandy-Walker malformation without hydrocephalus |
| 269218 | Isolated unilateral hemispheric cerebellar hypoplasia |
| 269221 | Isolated bilateral hemispheric cerebellar hypoplasia |
| 269229 | Pontine tegmental cap dysplasia |
| 2695 | Bifid nose |
| 269505 | Congenital communicating hydrocephalus |
| 269510 | Congenital non-communicating hydrocephalus |
| 2697 | Arthrogryposis-renal dysfunction-cholestasis syndrome |
| 2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome |
| 2699 | Median nodule of the upper lip |
| 27 | Vitamin B12-unresponsive methylmalonic acidemia |
| 270 | Oculopharyngeal muscular dystrophy |
| 2700 | Noma |
| 2701 | Noonan syndrome-like disorder with loose anagen hair |
| 2703 | Port-wine nevi-mega cisterna magna-hydrocephalus syndrome |
| 2704 | Ochoa syndrome |
| 2707 | Oculocerebrofacial syndrome, Kaufman type |
| 2709 | Oculodental syndrome, Rutherfurd type |
| 2710 | Oculodentodigital dysplasia |
| 2712 | Oculofaciocardiodental syndrome |
| 2713 | Oculoosteocutaneous syndrome |
| 2714 | Oculo-palato-cerebral syndrome |
| 2715 | Severe oculo-renal-cerebellar syndrome |
| 2717 | Oculotrichoanal syndrome |
| 2718 | Oculotrichodysplasia |
| 2719 | Oculocerebral hypopigmentation syndrome, Cross type |
| 272 | Congenital muscular dystrophy, Fukuyama type |
| 2720 | Oculocerebral hypopigmentation syndrome, Preus type |
| 2721 | Odonto-onycho-dermal dysplasia |
| 2722 | Odonto-onycho dysplasia-alopecia syndrome |
| 2723 | Odontotrichomelic syndrome |
| 2724 | Odontomatosis-aortae esophagus stenosis syndrome |
| 2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type |
| 2729 | Okamoto syndrome |
| 273 | Steinert myotonic dystrophy |
| 2730 | Postaxial tetramelic oligodactyly |
| 2732 | Olivopontocerebellar atrophy-deafness syndrome |
| 2733 | Omodysplasia |
| 2736 | Lethal omphalocele-cleft palate syndrome |
| 2737 | Onchocerciasis |
| 274 | Bernard-Soulier syndrome |
| 2741 | Ophthalmomandibulomelic dysplasia |
| 2743 | Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome |
| 2744 | Horizontal gaze palsy with progressive scoliosis |
| 2745 | Opitz GBBB syndrome |
| 2746 | Opsismodysplasia |
| 275 | Severe combined immunodeficiency due to DCLRE1C deficiency |
| 2750 | Orofaciodigital syndrome type 1 |
| 2751 | Orofaciodigital syndrome type 2 |
| 2752 | Orofaciodigital syndrome type 3 |
| 2753 | Orofaciodigital syndrome type 4 |
| 2754 | Orofaciodigital syndrome type 6 |
| 2755 | Orofaciodigital syndrome type 8 |
| 275517 | Autoimmune lymphoproliferative syndrome with recurrent viral infections |
| 275523 | Dianzani autoimmune lymphoproliferative disease |
| 275543 | L1 syndrome |
| 275555 | Preeclampsia |
| 2756 | Orofaciodigital syndrome type 10 |
| 275761 | Lysosomal acid lipase deficiency |
| 275766 | Idiopathic pulmonary arterial hypertension |
| 275777 | Heritable pulmonary arterial hypertension |
| 275864 | Behavioral variant of frontotemporal dementia |
| 275872 | Frontotemporal dementia with motor neuron disease |
| 2759 | Imperforate oropharynx-costovertebral anomalies syndrome |
| 275944 | Hemolytic disease of the newborn with Kell alloimmunization |
| 276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency |
| 2760 | OSLAM syndrome |
| 276066 | Bile acid CoA ligase deficiency and defective amidation |
| 276145 | Malignant epithelial tumor of salivary glands |
| 276148 | Benign epithelial tumor of salivary glands |
| 276152 | Multiple endocrine neoplasia type 4 |
| 276174 | Idiopathic recurrent stupor |
| 276183 | Spinocerebellar ataxia type 32 |
| 276193 | Spinocerebellar ataxia type 35 |
| 276198 | Spinocerebellar ataxia type 36 |
| 2762 | Progressive osseous heteroplasia |
| 276212 | Mucopolysaccharidosis type 6, rapidly progressing |
| 276223 | Mucopolysaccharidosis type 6, slowly progressing |
| 276234 | Non-syndromic male infertility due to sperm motility disorder |
| 276238 | Machado-Joseph disease type 1 |
| 276241 | Machado-Joseph disease type 2 |
| 276244 | Machado-Joseph disease type 3 |
| 276280 | Hemihyperplasia-multiple lipomatosis syndrome |
| 2763 | Osteocraniostenosis |
| 276399 | Familial multinodular goiter |
| 2764 | Osteochondritis dissecans |
| 276405 | Hyperbiliverdinemia |
| 276413 | 10q22.3q23.3 microdeletion syndrome |
| 276422 | 10q22.3q23.3 microduplication syndrome |
| 276429 | Hypnic headache |
| 276432 | Ogden syndrome |
| 276435 | Lower motor neuron syndrome with late-adult onset |
| 276556 | Hyperinsulinism due to UCP2 deficiency |
| 276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency |
| 276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency |
| 276598 | Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency |
| 276603 | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency |
| 276608 | Non-insulinoma pancreatogenous hypoglycemia syndrome |
| 276621 | Sporadic pheochromocytoma/secreting paraganglioma |
| 276630 | Symptomatic form of Coffin-Lowry syndrome in female carriers |
| 2767 | Carpotarsal osteochondromatosis |
| 2768 | Blount disease |
| 2769 | Familial osteodysplasia, Anderson type |
| 277 | Severe combined immunodeficiency due to adenosine deaminase deficiency |
| 2770 | Nasu-Hakola disease |
| 2771 | Bruck syndrome |
| 2772 | Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome |
| 2773 | Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome |
| 2774 | Multicentric carpo-tarsal osteolysis with or without nephropathy |
| 2776 | Autosomal recessive distal osteolysis syndrome |
| 2777 | Osteomesopyknosis |
| 2779 | Osteopathia striata-pigmentary dermopathy-white forelock syndrome |
| 2780 | Osteopathia striata-cranial sclerosis syndrome |
| 2783 | Autosomal dominant osteopetrosis type 1 |
| 2785 | Osteopetrosis with renal tubular acidosis |
| 2786 | Osteoporosis-oculocutaneous hypopigmentation syndrome |
| 2787 | Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome |
| 2788 | Osteoporosis-pseudoglioma syndrome |
| 2789 | Lateral meningocele syndrome |
| 2790 | Endosteal hyperostosis, Worth type |
| 2791 | Otodental syndrome |
| 2792 | Otofaciocervical syndrome |
| 2793 | Otoonychoperoneal syndrome |
| 2795 | Fowler urethral sphincter dysfunction syndrome |
| 2796 | Pachydermoperiostosis |
| 2798 | Pachygyria-intellectual disability-epilepsy syndrome |
| 279882 | Spasmus nutans |
| 279888 | Acute endophthalmitis |
| 279891 | Chronic endophthalmitis |
| 279894 | Toxic maculopathy due to antimalarial drugs |
| 279897 | Primary oculocerebral lymphoma |
| 279904 | Primary intraocular lymphoma |
| 279914 | Intermediate uveitis |
| 279919 | Infectious posterior uveitis |
| 279922 | Infectious anterior uveitis |
| 279925 | Infectious panuveitis |
| 279928 | Paraneoplastic uveitis |
| 279934 | Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency |
| 279943 | Hereditary neutrophilia |
| 279947 | Postorgasmic illness syndrome |
| 28 | Vitamin B12-responsive methylmalonic acidemia |
| 280 | Wolf-Hirschhorn syndrome |
| 2800 | Extramammary Paget disease |
| 280062 | Calciphylaxis |
| 280065 | Calciphylaxis cutis |
| 280068 | Visceral calciphylaxis |
| 280071 | ALG11-CDG |
| 2801 | Juvenile Paget disease |
| 280133 | Complement component 3 deficiency |
| 280142 | Severe combined immunodeficiency due to LCK deficiency |
| 280183 | Methylmalonic aciduria due to transcobalamin receptor defect |
| 280195 | Septopreoptic holoprosencephaly |
| 2802 | X-linked sideroblastic anemia and spinocerebellar ataxia |
| 280200 | Microform holoprosencephaly |
| 280205 | Laryngotracheoesophageal cleft type 0 |
| 280210 | Pelizaeus-Merzbacher disease, connatal form |
| 280219 | Pelizaeus-Merzbacher disease, classic form |
| 280224 | Pelizaeus-Merzbacher disease, transitional form |
| 280229 | Pelizaeus-Merzbacher disease in female carriers |
| 280234 | Null syndrome |
| 280270 | Pelizaeus-Merzbacher-like disease |
| 280282 | Pelizaeus-Merzbacher-like disease due to GJC2 mutation |
| 280288 | Pelizaeus-Merzbacher-like disease due to HSPD1 mutation |
| 280293 | Pelizaeus-Merzbacher-like disease due to AIMP1 mutation |
| 280302 | Autoimmune pancreatitis type 1 |
| 280315 | Autoimmune pancreatitis type 2 |
| 280325 | Distal deletion 12p |
| 280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 |
| 280356 | PLIN1-related familial partial lipodystrophy |
| 280365 | Autosomal semi-dominant severe lipodystrophic laminopathy |
| 280379 | Erythropoietic uroporphyria associated with myeloid malignancy |
| 280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome |
| 280397 | Familial Alzheimer-like prion disease |
| 2804 | W syndrome |
| 280403 | Familial omphalocele syndrome with facial dysmorphism |
| 280406 | Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| 2805 | Partial pancreatic agenesis |
| 280553 | Fatal infantile hypertonic myofibrillar myopathy |
| 280558 | Warsaw breakage syndrome |
| 280576 | Nestor-Guillermo progeria syndrome |
| 280586 | Chondrodysplasia with joint dislocations, gPAPP type |
| 280598 | Hereditary sensorimotor neuropathy with hyperelastic skin |
| 2806 | Subacute sclerosing leukoencephalitis |
| 280615 | Hemoglobinopathy Toms River |
| 280620 | Progressive myoclonic epilepsy type 6 |
| 280628 | Familial progressive hyper- and hypopigmentation |
| 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome |
| 280640 | Occipital pachygyria and polymicrogyria |
| 280654 | Autosomal recessive nail dysplasia |
| 280671 | Megaconial congenital muscular dystrophy |
| 280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome |
| 2807 | Papilloma of choroid plexus |
| 280763 | Severe intellectual disability and progressive spastic paraplegia |
| 280774 | Generalized essential telangiectasia |
| 280779 | Cutaneous collagenous vasculopathy |
| 280785 | Bullous diffuse cutaneous mastocytosis |
| 280794 | Pseudoxanthomatous diffuse cutaneous mastocytosis |
| 2808 | Laryngeal abductor paralysis |
| 280802 | Intralobar congenital pulmonary sequestration |
| 280811 | Extralobar congenital pulmonary sequestration |
| 280821 | Communicating congenital bronchopulmonary-foregut malformation |
| 280827 | Congenital pulmonary airway malformation type 0 |
| 280832 | Congenital pulmonary airway malformation type 1 |
| 280840 | Congenital pulmonary airway malformation type 2 |
| 280847 | Congenital pulmonary airway malformation type 3 |
| 280854 | Congenital pulmonary airway malformation type 4 |
| 2809 | Familial recurrent peripheral facial palsy |
| 280917 | Idiopathic posterior uveitis |
| 280921 | Idiopathic panuveitis |
| 281 | Monosomy 5p |
| 281090 | Syndromic recessive X-linked ichthyosis |
| 281122 | Self-improving collodion baby |
| 281127 | Acral self-healing collodion baby |
| 281139 | Annular epidermolytic ichthyosis |
| 281190 | Congenital reticular ichthyosiform erythroderma |
| 2812 | Parana hard skin syndrome |
| 281201 | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome |
| 2815 | Spastic paraparesis-deafness syndrome |
| 2818 | Spastic paraplegia-glaucoma-intellectual disability syndrome |
| 2819 | Spastic paraplegia-facial-cutaneous lesions syndrome |
| 2820 | Spastic paraplegia-nephritis-deafness syndrome |
| 2821 | Spastic paraplegia-neuropathy-poikiloderma syndrome |
| 282166 | Inherited Creutzfeldt-Jakob disease |
| 2822 | Autosomal recessive spastic paraplegia type 11 |
| 2824 | Paraplegia-intellectual disability-hyperkeratosis syndrome |
| 2825 | PARC syndrome |
| 2826 | Spastic paraplegia-precocious puberty syndrome |
| 2828 | Young-onset Parkinson disease |
| 283 | Demodicidosis |
| 2831 | Rhizomelic dysplasia, Patterson-Lowry type |
| 2832 | Short tarsus-absence of lower eyelashes syndrome |
| 2833 | Stiff skin syndrome |
| 2834 | Wrinkly skin syndrome |
| 2835 | Pectus excavatum-macrocephaly-dysplastic nails syndrome |
| 2836 | PEHO syndrome |
| 28378 | Tyrosinemia type 2 |
| 2838 | Renal caliceal diverticuli-deafness syndrome |
| 2839 | Pelvis-shoulder dysplasia |
| 284 | Alveolar echinococcosis |
| 2840 | Pelvic dysplasia-arthrogryposis of lower limbs syndrome |
| 2841 | Familial benign chronic pemphigus |
| 284139 | Larsen-like syndrome, B3GAT3 type |
| 284149 | Craniosynostosis-dental anomalies |
| 284160 | 8q21.11 microdeletion syndrome |
| 284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion |
| 284180 | Xp22.13p22.2 duplication syndrome |
| 2842 | Penoscrotal transposition |
| 284227 | TEMPI syndrome |
| 284232 | Autosomal dominant Charcot-Marie-Tooth disease type 2O |
| 284247 | Familial retinal arterial macroaneurysm |
| 284271 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome |
| 284282 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency |
| 284289 | Adult-onset autosomal recessive cerebellar ataxia |
| 2843 | Pentosuria |
| 284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia |
| 284332 | Infantile-onset autosomal recessive nonprogressive cerebellar ataxia |
| 284339 | Pontocerebellar hypoplasia type 7 |
| 284343 | DICER1 tumor-predisposition syndrome |
| 284362 | Fetal lung interstitial tumor |
| 284388 | Reversible cerebral vasoconstriction syndrome |
| 284395 | Well-differentiated fetal adenocarcinoma of the lung |
| 284400 | Small cell carcinoma of the bladder |
| 284411 | Glycerol kinase deficiency, juvenile form |
| 284414 | Glycerol kinase deficiency, adult form |
| 284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form |
| 284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency |
| 284435 | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency |
| 284448 | CLIPPERS |
| 284454 | Acute zonal occult outer retinopathy |
| 284460 | Acute annular outer retinopathy |
| 2847 | Pericardial and diaphragmatic defect |
| 2848 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome |
| 2849 | Perlman syndrome |
| 284963 | Marfan syndrome type 1 |
| 284973 | Marfan syndrome type 2 |
| 284979 | Neonatal Marfan syndrome |
| 284984 | Aneurysm-osteoarthritis syndrome |
| 285 | Hypermobile Ehlers-Danlos syndrome |
| 2850 | Alopecia-intellectual disability syndrome |
| 2854 | Fuhrmann syndrome |
| 2855 | Perrault syndrome |
| 2856 | Persistent Müllerian duct syndrome |
| 286 | Vascular Ehlers-Danlos syndrome |
| 2863 | Short stature-wormian bones-dextrocardia syndrome |
| 2865 | Short stature-webbed neck-heart disease syndrome |
| 2866 | Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome |
| 2867 | Short stature, Brussels type |
| 2868 | Short stature-valvular heart disease-characteristic facies syndrome |
| 2869 | Peutz-Jeghers syndrome |
| 287 | Classical Ehlers-Danlos syndrome |
| 2871 | Pfeiffer-Palm-Teller syndrome |
| 2872 | Cardiocranial syndrome, Pfeiffer type |
| 2874 | Phakomatosis pigmentokeratotica |
| 2875 | Phakomatosis pigmentovascularis |
| 2876 | PHAVER syndrome |
| 2878 | Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome |
| 2879 | Phocomelia, Schinzel type |
| 288 | Hereditary elliptocytosis |
| 2880 | Phosphoenolpyruvate carboxykinase deficiency |
| 2881 | Cutaneous photosensitivity-lethal colitis syndrome |
| 2882 | Sitosterolemia |
| 2884 | Piebaldism |
| 2885 | Piebald trait-neurologic defects syndrome |
| 2886 | TARP syndrome |
| 2888 | Pierre Robin syndrome-faciodigital anomaly syndrome |
| 2889 | Pili torti |
| 289 | Ellis Van Creveld syndrome |
| 2890 | Pili torti-onychodysplasia syndrome |
| 2891 | Pili torti-developmental delay-neurological abnormalities syndrome |
| 289157 | Hypocalcemic vitamin D-dependent rickets |
| 289176 | Autosomal recessive hypophosphatemic rickets |
| 2892 | Pilodental dysplasia-refractive errors syndrome |
| 289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation |
| 289290 | Hypermethioninemia encephalopathy due to adenosine kinase deficiency |
| 289307 | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency |
| 289326 | Tropical spastic paraparesis |
| 289347 | Infective dermatitis associated with HTLV-1 |
| 289356 | Primary non-gestational choriocarcinoma of ovary |
| 289362 | Non-central nervous system-localized embryonal carcinoma |
| 289365 | Familial vesicoureteral reflux |
| 289377 | Early-onset myopathy with fatal cardiomyopathy |
| 289380 | Myosclerosis |
| 289385 | Malignancy diagnosed during pregnancy |
| 289390 | Primary Sjögren syndrome |
| 289465 | Isolated congenital adermatoglyphia |
| 289478 | PASH syndrome |
| 289483 | Intellectual disability-alacrima-achalasia syndrome |
| 289494 | 4H leukodystrophy |
| 289499 | Congenital cataract microcornea with corneal opacity |
| 289504 | Combined malonic and methylmalonic acidemia |
| 289513 | 12q15q21.1 microdeletion syndrome |
| 289522 | Microtriplication 11q24.1 |
| 289539 | BAP1-related tumor predisposition syndrome |
| 289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency |
| 289553 | Dysmorphism-conductive hearing loss-heart defect syndrome |
| 289560 | Mitochondrial membrane protein-associated neurodegeneration |
| 289586 | Exfoliative ichthyosis |
| 289596 | Juvenile nasopharyngeal angiofibroma |
| 2896 | Pitt-Hopkins syndrome |
| 289601 | Hereditary arterial and articular multiple calcification syndrome |
| 289661 | Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly |
| 289666 | Plasmablastic lymphoma |
| 289682 | Lymphoepithelial-like carcinoma |
| 289685 | Myopericytoma |
| 2897 | Pityriasis rubra pilaris |
| 2898 | X-linked intellectual disability-plagiocephaly syndrome |
| 289846 | Glutathione synthetase deficiency with 5-oxoprolinuria |
| 289849 | Glutathione synthetase deficiency without 5-oxoprolinuria |
| 289857 | Neonatal glycine encephalopathy |
| 289860 | Infantile glycine encephalopathy |
| 289863 | Atypical glycine encephalopathy |
| 289877 | Transient hyperammonemia of the newborn |
| 289891 | Hypermethioninemia due to glycine N-methyltransferase deficiency |
| 2899 | Brachyolmia-amelogenesis imperfecta syndrome |
| 289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 |
| 29 | Mevalonic aciduria |
| 290 | Congenital rubella syndrome |
| 2900 | Leri pleonosteosis |
| 2901 | Neuralgic amyotrophy |
| 2902 | Idiopathic chronic eosinophilic pneumonia |
| 2903 | Familial spontaneous pneumothorax |
| 2905 | POEMS syndrome |
| 2907 | Hereditary acrokeratotic poikiloderma |
| 29072 | Hereditary pheochromocytoma-paraganglioma |
| 29073 | Multiple myeloma |
| 2908 | Kindler epidermolysis bullosa |
| 2909 | Rothmund-Thomson syndrome |
| 291 | Congenital varicella syndrome |
| 2911 | Poland syndrome |
| 2912 | Poliomyelitis |
| 2916 | Postaxial polydactyly-dental and vertebral anomalies syndrome |
| 2917 | Polydactyly-myopia syndrome |
| 2919 | Orofaciodigital syndrome type 5 |
| 292 | Congenital enterovirus infection |
| 2920 | Oliver syndrome |
| 29207 | Reactive arthritis |
| 2921 | Preaxial polydactyly-colobomata-intellectual disability syndrome |
| 2924 | Isolated polycystic liver disease |
| 2926 | Digital extensor muscle aplasia-polyneuropathy |
| 2928 | Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome |
| 2929 | Juvenile polyposis syndrome |
| 293 | Congenital herpes simplex virus infection |
| 2930 | Cronkhite-Canada syndrome |
| 293144 | Familial clubfoot due to 5q31 microdeletion |
| 293150 | Familial clubfoot due to PITX1 point mutation |
| 293165 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome |
| 293168 | Infantile-onset ascending hereditary spastic paralysis |
| 293173 | Acute generalized exanthematous pustulosis |
| 293181 | Malignant migrating focal seizures of infancy |
| 293199 | Pleomorphic rhabdomyosarcoma |
| 2932 | Chronic inflammatory demyelinating polyneuropathy |
| 293202 | Epithelioid sarcoma |
| 293208 | Celiac artery compression syndrome |
| 293284 | Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria |
| 293375 | Grayson-Wilbrandt corneal dystrophy |
| 293381 | Epithelial recurrent erosion dystrophy |
| 2934 | Polysyndactyly-cardiac malformation syndrome |
| 293462 | Pre-Descemet corneal dystrophy |
| 2935 | Crossed polysyndactyly |
| 293603 | Congenital hereditary endothelial dystrophy type II |
| 293621 | X-linked endothelial corneal dystrophy |
| 293633 | PYCR1-related De Barsy syndrome |
| 293707 | Blepharophimosis-intellectual disability syndrome, MKB type |
| 293725 | Blepharophimosis-intellectual disability syndrome, Verloes type |
| 293807 | Ketamine-induced biliary dilatation |
| 293812 | Fixed drug eruption |
| 293822 | MITF-related melanoma and renal cell carcinoma predisposition syndrome |
| 293825 | Congenital dyserythropoietic anemia type IV |
| 293843 | 3MC syndrome |
| 293864 | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome |
| 293888 | Familial isolated arrhythmogenic ventricular dysplasia, left dominant form |
| 293899 | Familial isolated arrhythmogenic ventricular dysplasia, biventricular form |
| 293910 | Familial isolated arrhythmogenic ventricular dysplasia, right dominant form |
| 293925 | Lethal occipital encephalocele-skeletal dysplasia syndrome |
| 293936 | EDICT syndrome |
| 293939 | Distal Xq28 microduplication syndrome |
| 293948 | 1p21.3 microdeletion syndrome |
| 293955 | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| 293958 | Hypertelorism-preauricular sinus-punctual pits-deafness syndrome |
| 293964 | Hypoinsulinemic hypoglycemia and body hemihypertrophy |
| 293967 | Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome |
| 293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome |
| 293987 | Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome |
| 294 | Fetal cytomegalovirus syndrome |
| 2940 | Porencephaly |
| 294016 | Microcephaly-capillary malformation syndrome |
| 294023 | Neonatal inflammatory skin and bowel disease |
| 294026 | Syndactyly-nystagmus syndrome due to 2q31.1 microduplication |
| 2941 | Porencephaly-cerebellar hypoplasia-internal malformations syndrome |
| 2942 | Postpoliomyelitis syndrome |
| 294415 | Renal-hepatic-pancreatic dysplasia |
| 294422 | Chronic intestinal failure |
| 2946 | Brachydactyly-long thumb syndrome |
| 2947 | Triphalangeal thumbs-brachyectrodactyly syndrome |
| 294967 | Amelia of upper limb |
| 294969 | Amelia of lower limb |
| 294971 | Tetra-amelia |
| 294973 | Humeral agenesis/hypoplasia |
| 294975 | Congenital absence of upper arm and forearm with hand present |
| 294977 | Congenital absence of thigh and lower leg with foot present |
| 294979 | Congenital absence of both forearm and hand |
| 294981 | Congenital absence of both lower leg and foot |
| 294983 | Acheiria |
| 294986 | Apodia |
| 294988 | Congenital hypoplasia of thumb |
| 295 | Fetal parvovirus syndrome |
| 295000 | Constriction rings syndrome |
| 295002 | Hyperphalangy |
| 295004 | Central polydactyly |
| 295012 | Syndactyly type 6 |
| 295014 | Familial isolated clinodactyly of fingers |
| 295016 | Camptodactyly of fingers |
| 295018 | Congenital pseudoarthrosis of the tibia |
| 295020 | Congenital pseudoarthrosis of the femur |
| 295022 | Congenital pseudoarthrosis of the fibula |
| 295024 | Congenital pseudoarthrosis of the radius |
| 295026 | Congenital pseudoarthrosis of the ulna |
| 295028 | Tibio-fibular synostosis |
| 295030 | True congenital shoulder dislocation |
| 295032 | Isolated congenital radial head dislocation |
| 295034 | Congenital knee dislocation |
| 295036 | Congenital patella dislocation |
| 295044 | Macrodactyly of fingers |
| 295047 | Macrodactyly of toes |
| 295049 | Upper limb hypertrophy |
| 295051 | Lower limb hypertrophy |
| 2951 | Absent thumb-short stature-immunodeficiency syndrome |
| 295187 | Zygodactyly type 1 |
| 295189 | Zygodactyly type 2 |
| 295191 | Zygodactyly type 3 |
| 295193 | Zygodactyly type 4 |
| 295195 | Synpolydactyly type 1 |
| 295197 | Synpolydactyly type 2 |
| 295199 | Synpolydactyly type 3 |
| 2952 | Adducted thumbs-arthrogryposis syndrome, Christian type |
| 295201 | Congenital vertical talus, unilateral |
| 295203 | Congenital vertical talus, bilateral |
| 295213 | Humero-ulnar synostosis, unilateral |
| 295215 | Humero-ulnar synostosis, bilateral |
| 295217 | Radio-ulnar synostosis, unilateral |
| 295219 | Radio-ulnar synostosis, bilateral |
| 295225 | Congenital elbow dislocation, unilateral |
| 295227 | Congenital elbow dislocation, bilateral |
| 295229 | Congenital genu recurvatum |
| 295232 | Congenital genu flexum |
| 295239 | Macrodactyly of fingers, unilateral |
| 295241 | Macrodactyly of fingers, bilateral |
| 295243 | Macrodactyly of toes, unilateral |
| 295245 | Macrodactyly of toes, bilateral |
| 2953 | Musculocontractural Ehlers-Danlos syndrome |
| 2956 | Acrodysplasia scoliosis |
| 2957 | Guttmacher syndrome |
| 2958 | X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome |
| 2959 | Progeria-short stature-pigmented nevi syndrome |
| 296 | Ollier disease |
| 2962 | De Barsy syndrome |
| 2963 | Progeroid syndrome, Petty type |
| 2964 | Autosomal dominant prognathism |
| 2965 | Prolactinoma |
| 2966 | Properdin deficiency |
| 2967 | Transcobalamin I deficiency |
| 2968 | Leukocyte adhesion deficiency |
| 2969 | Proteus-like syndrome |
| 297 | Tick-borne encephalitis |
| 2970 | Prune belly syndrome |
| 2971 | Peroxisomal acyl-CoA oxidase deficiency |
| 2972 | Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome |
| 2973 | 46,XX difference of sex development-anorectal anomalies syndrome |
| 2975 | 46,XX difference of sex development-skeletal anomalies syndrome |
| 2976 | Pseudoleprechaunism syndrome, Patterson type |
| 2978 | Chronic intestinal pseudoobstruction |
| 298 | Mitochondrial neurogastrointestinal encephalomyopathy |
| 2980 | Acrootoocular syndrome |
| 29822 | Spontaneous periodic hypothermia |
| 2983 | Difference of sex development-intellectual disability syndrome |
| 2985 | Pseudoprogeria syndrome |
| 2987 | Antecubital pterygium syndrome |
| 2988 | Pterygium colli-intellectual disability-digital anomalies syndrome |
| 2989 | Familial pterygium of the conjunctiva |
| 2990 | Autosomal recessive multiple pterygium syndrome |
| 2994 | Short stature-craniofacial anomalies-genital hypoplasia syndrome |
| 2995 | Baraitser-Winter cerebrofrontofacial syndrome |
| 2997 | Ptosis-vocal cord paralysis syndrome |
| 2999 | Ptosis-strabismus-ectopic pupils syndrome |
| 30 | Hereditary orotic aciduria |
| 300 | Bifunctional enzyme deficiency |
| 3000 | Familial peripheral male-limited precocious puberty |
| 300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency |
| 3002 | Immune thrombocytopenia |
| 300284 | Connective tissue disorder due to lysyl hydroxylase-3 deficiency |
| 300293 | Transient infantile hypertriglyceridemia and hepatosteatosis |
| 300298 | Severe congenital hypochromic anemia with ringed sideroblasts |
| 3003 | Pyknoachondrogenesis |
| 300305 | 11p15.4 microduplication syndrome |
| 300313 | Congenital cataract-hearing loss-severe developmental delay syndrome |
| 300319 | Charcot-Marie-Tooth disease type 2P |
| 300324 | Persistent polyclonal B-cell lymphocytosis |
| 300333 | Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome |
| 300345 | Autosomal systemic lupus erythematosus |
| 300359 | PLCG2-associated antibody deficiency and immune dysregulation |
| 300373 | X-linked acrogigantism |
| 300382 | Progeroid and marfanoid aspect-lipodystrophy syndrome |
| 300385 | Pituitary carcinoma |
| 3004 | Mirror polydactyly-vertebral segmentation-limbs defects syndrome |
| 300493 | Sagliker syndrome |
| 300496 | Multiple congenital anomalies-hypotonia-seizures syndrome type 2 |
| 3005 | Pyle disease |
| 300501 | Painful orbital and systemic neurofibromas-marfanoid habitus syndrome |
| 300504 | Onychocytic matricoma |
| 300512 | Onychomatricoma |
| 300525 | Pseudohypoaldosteronism type 2D |
| 300530 | Pseudohypoaldosteronism type 2E |
| 300536 | DDOST-CDG |
| 300547 | Autosomal recessive infantile hypercalcemia |
| 300552 | Follicular cholangitis and pancreatitis |
| 300557 | Carcinoma of the ampulla of Vater |
| 300564 | Combined pulmonary fibrosis-emphysema syndrome |
| 300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation |
| 300573 | Polymicrogyria due to TUBB2B mutation |
| 300576 | Oligodontia-cancer predisposition syndrome |
| 3006 | Pyridoxine-dependent epilepsy |
| 300605 | Juvenile amyotrophic lateral sclerosis |
| 300751 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation |
| 3008 | Pyruvate carboxylase deficiency |
| 300849 | Diffuse large B-cell lymphoma of the central nervous system |
| 300857 | T-cell/histiocyte rich large B cell lymphoma |
| 300865 | Primary cutaneous anaplastic large cell lymphoma |
| 300869 | Splenic diffuse red pulp small B-cell lymphoma |
| 300878 | Hairy cell leukemia variant |
| 300888 | Diffuse large B-cell lymphoma with chronic inflammation |
| 300895 | ALK-positive anaplastic large cell lymphoma |
| 300903 | ALK-negative anaplastic large cell lymphoma |
| 3010 | Qazi-Markouizos syndrome |
| 3011 | Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome |
| 3015 | Radio-renal syndrome |
| 3016 | Absent radius-anogenital anomalies syndrome |
| 3018 | Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome |
| 3019 | Ramon syndrome |
| 302 | Epidermodysplasia verruciformis |
| 3020 | Ramsay Hunt syndrome |
| 3021 | RAPADILINO syndrome |
| 3023 | External auditory canal atresia-vertical talus-hypertelorism syndrome |
| 3026 | Radial ray hypoplasia-choanal atresia syndrome |
| 3027 | Caudal regression syndrome |
| 3032 | NPHP3-related Meckel-like syndrome |
| 3033 | Renal tubular dysgenesis |
| 3034 | Delayed membranous cranial ossification |
| 3035 | Growth delay-hydrocephaly-lung hypoplasia syndrome |
| 3038 | Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome |
| 30391 | Isolated biliary atresia |
| 3041 | Intellectual disability-balding-patella luxation-acromicria syndrome |
| 3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome |
| 3044 | Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome |
| 3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type |
| 3051 | Nicolaides-Baraitser syndrome |
| 3052 | X-linked intellectual disability-seizures-psoriasis syndrome |
| 3055 | X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome |
| 3057 | Monoamine oxidase A deficiency |
| 306 | Benign familial infantile epilepsy |
| 3063 | X-linked intellectual disability, Snyder type |
| 306431 | Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies |
| 306504 | Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome |
| 306511 | Autosomal recessive spastic paraplegia type 48 |
| 306516 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis |
| 306527 | Isolated hereditary congenital facial paralysis |
| 306530 | Congenital hereditary facial paralysis-variable hearing loss syndrome |
| 306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome |
| 306547 | Porencephaly-microcephaly-bilateral congenital cataract syndrome |
| 306550 | FADD-related immunodeficiency |
| 306553 | Myospherulosis |
| 306558 | Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome |
| 306577 | Sodium channelopathy-related small fiber neuropathy |
| 306617 | X-linked complicated spastic paraplegia type 1 |
| 306644 | Complication after organ transplantation |
| 306658 | Familial normophosphatemic tumoral calcinosis |
| 306661 | Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome |
| 306669 | Hemiparkinsonism-hemiatrophy syndrome |
| 306674 | Kufor-Rakeb syndrome |
| 306682 | Manganese poisoning |
| 306686 | Delayed encephalopathy due to carbon monoxide poisoning |
| 306692 | Cyanide-induced parkinsonism-dystonia |
| 306731 | Sydenham chorea |
| 306734 | Primary dystonia, DYT21 type |
| 306741 | Hemidystonia-hemiatrophy syndrome |
| 306776 | Sporadic hyperekplexia |
| 3068 | Intellectual disability-myopathy-short stature-endocrine defect syndrome |
| 307 | Juvenile myoclonic epilepsy |
| 3071 | Costello syndrome |
| 3074 | Intellectual disability-short stature-hypertelorism syndrome |
| 3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome |
| 307766 | Curly hair-acral keratoderma-caries syndrome |
| 3078 | Severe X-linked intellectual disability, Gustavson type |
| 3079 | Intellectual disability, Buenos-Aires type |
| 307936 | Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome |
| 308 | Progressive myoclonic epilepsy type 1 |
| 3080 | Intellectual disability, Wolff type |
| 308013 | Focal acral hyperkeratosis |
| 3082 | Intellectual disability-polydactyly-uncombable hair syndrome |
| 308380 | Methylcobalamin deficiency type cblDv1 |
| 308386 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A |
| 308393 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| 308400 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C |
| 308410 | Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency |
| 308425 | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
| 308442 | Vitamin B12-responsive methylmalonic acidemia, type cblDv2 |
| 308473 | Erythrocyte galactose epimerase deficiency |
| 308487 | Generalized galactose epimerase deficiency |
| 3085 | Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome |
| 308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset |
| 3086 | Autosomal dominant vitreoretinochoroidopathy |
| 308621 | Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form |
| 308638 | Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form |
| 308655 | Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form |
| 308670 | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form |
| 308684 | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form |
| 308698 | Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form |
| 308712 | Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form |
| 3088 | Revesz syndrome |
| 309015 | Familial lipoprotein lipase deficiency |
| 309020 | Familial apolipoprotein C-II deficiency |
| 309025 | Mevalonate kinase deficiency |
| 309031 | Pancreatic triacylglycerol lipase deficiency |
| 309108 | Pancreatic colipase deficiency |
| 309111 | Combined pancreatic lipase-colipase deficiency |
| 309147 | Hyper-beta-alaninemia |
| 309155 | Sandhoff disease, infantile form |
| 309162 | Sandhoff disease, juvenile form |
| 309169 | Sandhoff disease, adult form |
| 309178 | Tay-Sachs disease, B variant, infantile form |
| 309185 | Tay-Sachs disease, B variant, juvenile form |
| 309192 | Tay-Sachs disease, B variant, adult form |
| 3092 | Fixed subaortic stenosis |
| 309239 | Tay-Sachs disease, B1 variant |
| 30924 | Primary hypomagnesemia with secondary hypocalcemia |
| 309246 | GM2 gangliosidosis, AB variant |
| 30925 | Hereditary central diabetes insipidus |
| 309252 | Atypical Gaucher disease due to saposin C deficiency |
| 309256 | Metachromatic leukodystrophy, late infantile form |
| 309263 | Metachromatic leukodystrophy, juvenile form |
| 309271 | Metachromatic leukodystrophy, adult form |
| 309282 | Alpha-mannosidosis, infantile form |
| 309288 | Alpha-mannosidosis, adult form |
| 309297 | Mucopolysaccharidosis type 4A |
| 3093 | Congenital aortic valve stenosis |
| 309310 | Mucopolysaccharidosis type 4B |
| 309324 | Free sialic acid storage disease, infantile form |
| 309331 | Intermediate severe Salla disease |
| 309334 | Salla disease |
| 3095 | Atypical Rett syndrome |
| 3096 | Reye syndrome |
| 3097 | Meacham syndrome |
| 309789 | Rhizomelic chondrodysplasia punctata type 1 |
| 309796 | Rhizomelic chondrodysplasia punctata type 2 |
| 3098 | Rhizomelic syndrome, Urbach type |
| 309803 | Rhizomelic chondrodysplasia punctata type 3 |
| 309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome |
| 3099 | Rheumatic fever |
| 31 | Oxoglutaric aciduria |
| 3101 | Richieri Costa-da Silva syndrome |
| 3102 | Richieri Costa-Pereira syndrome |
| 3103 | Roberts syndrome |
| 3104 | Robin sequence-oligodactyly syndrome |
| 31043 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement |
| 3107 | Autosomal dominant Robinow syndrome |
| 3109 | Mayer-Rokitansky-Küster-Hauser syndrome |
| 3110 | Rombo syndrome |
| 3111 | Rotor syndrome |
| 31112 | Dermatofibrosarcoma protuberans |
| 3115 | Roussy-Lévy syndrome |
| 31150 | Tangier disease |
| 312 | Autosomal dominant epidermolytic ichthyosis |
| 31202 | Melioidosis |
| 31204 | Nocardiosis |
| 31205 | Rat-bite fever |
| 3121 | Ruvalcaba syndrome |
| 3124 | Saccharopinuria |
| 3129 | Sarcosinemia |
| 313 | Lamellar ichthyosis |
| 3130 | Satoyoshi syndrome |
| 3132 | Say-Barber-Miller syndrome |
| 3134 | SCARF syndrome |
| 3137 | Alpha-N-acetylgalactosaminidase deficiency |
| 313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome |
| 313781 | 20p13 microdeletion syndrome |
| 313795 | Jawad syndrome |
| 3138 | Ulnar-mammary syndrome |
| 313800 | Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome |
| 313808 | Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia |
| 313838 | Coats plus syndrome |
| 313846 | Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome |
| 313850 | Infantile cerebellar-retinal degeneration |
| 313855 | FGFR2-related bent bone dysplasia |
| 313884 | 12p12.1 microdeletion syndrome |
| 313892 | Developmental and speech delay due to SOX5 deficiency |
| 313906 | Congenital pancreatic cyst |
| 313920 | Epstein-Barr virus-associated gastric carcinoma |
| 313936 | PENS syndrome |
| 313947 | 2q23.1 microduplication syndrome |
| 314 | Erythroderma desquamativum |
| 314002 | Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome |
| 314017 | Idiopathic linear interstitial keratitis |
| 314022 | Gastric adenocarcinoma and proximal polyposis of the stomach |
| 314029 | High bone mass osteogenesis imperfecta |
| 314034 | 7p22.1 microduplication syndrome |
| 314041 | Marfanoid habitus-inguinal hernia-advanced bone age syndrome |
| 314051 | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome |
| 3143 | Autoimmune polyendocrinopathy type 2 |
| 314373 | Chronic infantile diarrhea due to guanylate cyclase 2C overactivity |
| 314376 | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency |
| 314381 | Hereditary sensory and autonomic neuropathy type 6 |
| 314389 | Xq12-q13.3 duplication syndrome |
| 314394 | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| 314399 | Autosomal dominant aplasia and myelodysplasia |
| 3144 | Schneckenbecken dysplasia |
| 314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome |
| 314419 | Ameloblastoma |
| 314422 | Ameloblastic carcinoma |
| 314432 | Spigelian hernia-cryptorchidism syndrome |
| 314451 | Meigs syndrome |
| 314459 | Pseudo-Meigs syndrome |
| 314466 | Atypical Meigs syndrome |
| 314473 | Ovarian fibroma |
| 314478 | Ovarian fibrothecoma |
| 314485 | Young adult-onset distal hereditary motor neuropathy |
| 3145 | Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome |
| 314555 | Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome |
| 314566 | Primary progressive apraxia of speech |
| 314572 | Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome |
| 314575 | Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome |
| 314585 | 15q overgrowth syndrome |
| 314588 | Distal triplication 15q |
| 314597 | Chudley-McCullough syndrome |
| 314603 | Autosomal recessive spastic ataxia with leukoencephalopathy |
| 314613 | Growing teratoma syndrome |
| 314621 | Duplication of the pituitary gland |
| 314629 | CLN11 disease |
| 314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis |
| 314637 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency |
| 314647 | Non-progressive cerebellar ataxia with intellectual disability |
| 314652 | Variant ABeta2M amyloidosis |
| 314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion |
| 314662 | Segmental progressive overgrowth syndrome with fibroadipose hyperplasia |
| 314667 | TMEM165-CDG |
| 314679 | Cerebrofacioarticular syndrome |
| 314684 | Primary bone lymphoma |
| 314689 | Combined immunodeficiency due to STK4 deficiency |
| 314697 | Acquired porencephaly |
| 314701 | Primary systemic amyloidosis |
| 314709 | Primary localized amyloidosis |
| 314718 | Lethal arteriopathy syndrome due to fibulin-4 deficiency |
| 314721 | Atypical dentin dysplasia due to SMOC2 deficiency |
| 314769 | Somatomammotropinoma |
| 314777 | Familial isolated pituitary adenoma |
| 314786 | Silent pituitary adenoma |
| 314790 | Null pituitary adenoma |
| 314795 | SHOX-related short stature |
| 3148 | Malignant peripheral nerve sheath tumor |
| 314802 | Short stature due to partial GHR deficiency |
| 314811 | Short stature due to GHSR deficiency |
| 314889 | Autosomal dominant proximal renal tubular acidosis |
| 314911 | Severe Canavan disease |
| 314918 | Mild Canavan disease |
| 314950 | Primary hypereosinophilic syndrome |
| 314962 | Secondary hypereosinophilic syndrome |
| 314970 | Lymphocytic hypereosinophilic syndrome |
| 314978 | X-linked non progressive cerebellar ataxia |
| 314993 | Cataract-congenital heart disease-neural tube defect syndrome |
| 315 | Erythrokeratoderma ''en cocardes'' |
| 3151 | Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome |
| 3152 | Sclerosteosis |
| 315306 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form |
| 315311 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form |
| 3156 | Senior-Loken syndrome |
| 3157 | Septo-optic dysplasia spectrum |
| 316 | Progressive symmetric erythrokeratodermia |
| 3161 | Congenital pulmonary sequestration |
| 3162 | Sézary syndrome |
| 3163 | SHORT syndrome |
| 3164 | Omphalocele syndrome, Shprintzen-Goldberg type |
| 3165 | Eosinophilic fasciitis |
| 3166 | Sialuria |
| 3167 | Siegler-Brewer-Carey syndrome |
| 3168 | Sillence syndrome |
| 3169 | Sirenomelia |
| 317 | Erythrokeratodermia variabilis |
| 31709 | Infantile convulsions and choreoathetosis |
| 3172 | Eyebrow duplication-syndactyly syndrome |
| 3173 | Infantile spasms-broad thumbs syndrome |
| 317425 | Severe combined immunodeficiency due to DNA-PKcs deficiency |
| 317428 | Combined immunodeficiency due to ORAI1 deficiency |
| 317430 | Combined immunodeficiency due to STIM1 deficiency |
| 317473 | Pancytopenia due to IKZF1 mutations |
| 317476 | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
| 3175 | X-linked spasticity-intellectual disability-epilepsy syndrome |
| 3176 | Spina bifida-hypospadias syndrome |
| 3177 | Spinocerebellar degeneration-corneal dystrophy syndrome |
| 318 | Acute erythroid leukemia |
| 3180 | Spondylocamptodactyly syndrome |
| 3181 | Sprengel deformity |
| 31824 | Colchicine poisoning |
| 31825 | Methanol poisoning |
| 31826 | Ethylene glycol poisoning |
| 31827 | Paraquat poisoning |
| 31828 | Digitalis poisoning |
| 31837 | Pulmonary venoocclusive disease |
| 3184 | Steatocystoma multiplex-natal teeth syndrome |
| 3186 | Holoprosencephaly-radial heart renal anomalies syndrome |
| 3189 | Congenital pulmonary valvar stenosis |
| 319 | Skeletal Ewing sarcoma |
| 3190 | Subpulmonary stenosis |
| 3191 | Subaortic stenosis-short stature syndrome |
| 319160 | Congenital myopathy with internal nuclei and atypical cores |
| 319171 | Distal 17p13.1 microdeletion syndrome |
| 319182 | Wiedemann-Steiner syndrome |
| 319189 | Familial cortical myoclonus |
| 319192 | Diencephalic-mesencephalic junction dysplasia |
| 319195 | Chondroectodermal dysplasia with night blindness |
| 319199 | Autosomal recessive spastic paraplegia type 53 |
| 3192 | Supravalvular pulmonary stenosis |
| 319205 | Bilateral massive adrenal hemorrhage |
| 319213 | Lujo hemorrhagic fever |
| 319218 | Ebola hemorrhagic fever |
| 319223 | Argentine hemorrhagic fever |
| 319229 | Bolivian hemorrhagic fever |
| 319234 | Venezuelan hemorrhagic fever |
| 319239 | Brazilian hemorrhagic fever |
| 319244 | Chapare hemorrhagic fever |
| 319247 | Hantavirus pulmonary syndrome |
| 319251 | Rift valley fever |
| 319254 | Kyasanur forest disease |
| 319266 | Omsk hemorrhagic fever |
| 319276 | Clear cell renal carcinoma |
| 319287 | Multilocular cystic renal neoplasm of low malignant potential |
| 319298 | Papillary renal cell carcinoma |
| 3193 | Supravalvular aortic stenosis |
| 319303 | Chromophobe renal cell carcinoma |
| 319308 | MiT family translocation renal cell carcinoma |
| 319319 | Renal medullary carcinoma |
| 319322 | Mucinous tubular and spindle cell renal carcinoma |
| 319325 | Tubulocystic renal cell carcinoma |
| 319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita |
| 319340 | Carney complex-trismus-pseudocamptodactyly syndrome |
| 3194 | Corneodermatoosseous syndrome |
| 319462 | Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations |
| 319465 | Inherited acute myeloid leukemia |
| 319480 | Acute myeloid leukemia with CEBPA somatic mutations |
| 319487 | Familial papillary or follicular thyroid carcinoma |
| 319504 | Combined oxidative phosphorylation defect type 8 |
| 319509 | Combined oxidative phosphorylation defect type 9 |
| 319514 | Combined oxidative phosphorylation defect type 13 |
| 319519 | Combined oxidative phosphorylation defect type 14 |
| 319524 | Combined oxidative phosphorylation defect type 15 |
| 319547 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency |
| 319552 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| 319558 | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| 319563 | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
| 319569 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency |
| 319574 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency |
| 319581 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency |
| 319589 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency |
| 319595 | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency |
| 3196 | Steroid dehydrogenase deficiency-dental anomalies syndrome |
| 319600 | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency |
| 319605 | X-linked mendelian susceptibility to mycobacterial diseases |
| 319612 | X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency |
| 319623 | X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency |
| 319635 | Amyloidosis cutis dyschromia |
| 319640 | Retinal macular dystrophy type 2 |
| 319646 | PGM1-CDG |
| 319651 | Constitutional megaloblastic anemia with severe neurologic disease |
| 319667 | Primary lymphoma of the conjunctiva |
| 319671 | Alazami syndrome |
| 319675 | Microcephalic primordial dwarfism, Dauber type |
| 319678 | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
| 3197 | Hereditary hyperekplexia |
| 3198 | Stiff person spectrum disorder |
| 3199 | Stimmler syndrome |
| 32 | Glutathione synthetase deficiency |
| 320 | Apparent mineralocorticoid excess |
| 3200 | Arthrogryposis-ectodermal dysplasia syndrome |
| 3201 | Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome |
| 3202 | Dehydrated hereditary stomatocytosis |
| 3203 | Overhydrated hereditary stomatocytosis |
| 320355 | Autosomal dominant spastic paraplegia type 41 |
| 320360 | MT-ATP6-related mitochondrial spastic paraplegia |
| 320365 | Autosomal dominant spastic paraplegia type 36 |
| 320370 | Autosomal recessive spastic paraplegia type 43 |
| 320375 | Autosomal recessive spastic paraplegia type 55 |
| 320380 | Autosomal recessive spastic paraplegia type 54 |
| 320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation |
| 320391 | Autosomal recessive spastic paraplegia type 46 |
| 320396 | Autosomal recessive spastic paraplegia type 45 |
| 3204 | Stormorken-Sjaastad-Langslet syndrome |
| 320401 | Autosomal recessive spastic paraplegia type 44 |
| 320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome |
| 320411 | Autosomal recessive spastic paraplegia type 56 |
| 3205 | Sturge-Weber syndrome |
| 3206 | Stüve-Wiedemann syndrome |
| 3207 | White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome |
| 3208 | Isolated succinate-CoQ reductase deficiency |
| 321 | Multiple osteochondromas |
| 3210 | Summitt syndrome |
| 3214 | Deaf blind hypopigmentation syndrome, Yemenite type |
| 3216 | Conductive deafness-malformed external ear syndrome |
| 3217 | Deafness-small bowel diverticulosis-neuropathy syndrome |
| 3218 | Deafness-epiphyseal dysplasia-short stature syndrome |
| 3219 | Fountain syndrome |
| 322 | Exstrophy-epispadias complex |
| 3220 | Deafness-enamel hypoplasia-nail defects syndrome |
| 3222 | Phosphoribosylpyrophosphate synthetase superactivity |
| 3224 | Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome |
| 3225 | Hearing loss-familial salivary gland insensitivity to aldosterone syndrome |
| 3226 | Deafness-lymphedema-leukemia syndrome |
| 3230 | Deafness-oligodontia syndrome |
| 3232 | Deafness-ear malformation-facial palsy syndrome |
| 3233 | Cochleosaccular degeneration-cataract syndrome |
| 3235 | Progressive deafness with stapes fixation |
| 3236 | Conductive deafness-ptosis-skeletal anomalies syndrome |
| 3237 | Multiple synostoses syndrome |
| 3238 | Cardiospondylocarpofacial syndrome |
| 3239 | Deafness-vitiligo-achalasia syndrome |
| 324 | Fabry disease |
| 3240 | Central nervous system calcification-deafness-tubular acidosis-anemia syndrome |
| 3241 | Deafness-craniofacial syndrome |
| 3242 | Renpenning syndrome |
| 324262 | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency |
| 324290 | Early-onset Lafora body disease |
| 324294 | T-cell immunodeficiency with epidermodysplasia verruciformis |
| 324299 | Multiple paragangliomas associated with polycythemia |
| 3243 | Sweet syndrome |
| 324307 | Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome |
| 324313 | 9p13 microdeletion syndrome |
| 324321 | Sinoatrial node dysfunction and deafness |
| 324353 | Congenital achiasma |
| 324364 | Mixed sclerosing bone dystrophy with extra-skeletal manifestations |
| 324381 | Hereditary inclusion body myopathy type 4 |
| 324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome |
| 324416 | Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome |
| 324422 | ALG13-CDG |
| 324442 | Autosomal recessive axonal neuropathy with neuromyotonia |
| 324525 | Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation |
| 324530 | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation |
| 324535 | Combined oxidative phosphorylation defect type 11 |
| 324540 | Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome |
| 324561 | Hypopigmentation-punctate palmoplantar keratoderma syndrome |
| 324569 | Pontocerebellar hypoplasia type 8 |
| 324575 | Hyperinsulinism due to HNF1A deficiency |
| 324581 | Benign Samaritan congenital myopathy |
| 324585 | Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain |
| 324588 | Familial dyskinesia and facial myokymia |
| 3246 | Symphalangism with multiple anomalies of hands and feet |
| 324601 | X-linked cleft palate and ankyloglossia |
| 324604 | Classic multiminicore myopathy |
| 324611 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation |
| 324625 | Chikungunya |
| 324632 | Hendra virus infection |
| 324636 | Autoerythrocyte sensitization syndrome |
| 324648 | Invasive non-typhoidal salmonellosis |
| 324703 | ABetaL34V amyloidosis |
| 324708 | ABeta amyloidosis, Iowa type |
| 324713 | ABeta amyloidosis, Italian type |
| 324718 | ABetaA21G amyloidosis |
| 324723 | ABeta amyloidosis, Arctic type |
| 324737 | SRD5A3-CDG |
| 3248 | Distal symphalangism |
| 324964 | Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis |
| 324972 | MAGIC syndrome |
| 324977 | Proteasome-associated autoinflammatory syndrome |
| 325 | Congenital factor II deficiency |
| 3250 | Proximal symphalangism |
| 325124 | Testicular agenesis |
| 3253 | Cleft lip/palate-ectodermal dysplasia syndrome |
| 325345 | 46,XY ovotesticular difference of sex development |
| 325448 | Leydig cell hypoplasia due to LHB deficiency |
| 3255 | Filippi syndrome |
| 325524 | Classic congenital lipoid adrenal hyperplasia due to STAR deficency |
| 325529 | Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency |
| 3258 | Cenani-Lenz syndrome |
| 3259 | Syndactyly-polydactyly-ear lobe syndrome |
| 326 | Congenital factor V deficiency |
| 3260 | Idiopathic hypereosinophilic syndrome |
| 3261 | Autoimmune lymphoproliferative syndrome |
| 3262 | Dobrow syndrome |
| 3263 | Syngnathia-cleft palate syndrome |
| 3265 | Humero-radial synostosis |
| 3266 | Humero-radio-ulnar synostosis |
| 3268 | Radioulnar synostosis-microcephaly-scoliosis syndrome |
| 3269 | Congenital radioulnar synostosis |
| 327 | Congenital factor VII deficiency |
| 3270 | Radioulnar synostosis-developmental delay-hypotonia syndrome |
| 3273 | Synovial sarcoma |
| 3275 | Spondylocarpotarsal synostosis |
| 328 | Congenital factor X deficiency |
| 3282 | Multifocal atrial tachycardia |
| 3283 | His bundle tachycardia |
| 3286 | Catecholaminergic polymorphic ventricular tachycardia |
| 3287 | Takayasu arteritis |
| 329 | Congenital factor XI deficiency |
| 3291 | Teebi-Shaltout syndrome |
| 329173 | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis |
| 329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy |
| 329191 | Tall stature-long halluces-multiple extra-epiphyses syndrome |
| 329195 | Developmental delay with autism spectrum disorder and gait instability |
| 3292 | Tel Hashomer camptodactyly syndrome |
| 329211 | Autosomal dominant neovascular inflammatory vitreoretinopathy |
| 329217 | Cerebral sinovenous thrombosis |
| 329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome |
| 329228 | Microcephalic primordial dwarfism due to ZNF335 deficiency |
| 329235 | X-linked central congenital hypothyroidism with late-onset testicular enlargement |
| 329242 | Congenital chronic diarrhea with protein-losing enteropathy |
| 329249 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency |
| 329258 | Autosomal dominant Charcot-Marie-Tooth disease type 2Q |
| 329284 | Beta-propeller protein-associated neurodegeneration |
| 3293 | Telecanthus-hypertelorism-strabismus-pes cavus syndrome |
| 329308 | Fatty acid hydroxylase-associated neurodegeneration |
| 329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency |
| 329319 | Thrombocythemia with distal limb defects |
| 329324 | Inverse Klippel-Trénaunay syndrome |
| 329329 | Autosomal recessive frontotemporal pachygyria |
| 329332 | Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome |
| 329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy |
| 3294 | Extensor tendons of finger anomalies |
| 329457 | Distal arthrogryposis type 5D |
| 329466 | Autosomal dominant focal dystonia, DYT25 type |
| 329469 | Acute megakaryoblastic leukemia without Down syndrome |
| 329475 | Spastic paraplegia-Paget disease of bone syndrome |
| 329478 | Adult-onset distal myopathy due to VCP mutation |
| 329481 | Lipoprotein glomerulopathy |
| 32960 | Tumor necrosis factor receptor 1 associated periodic syndrome |
| 329802 | 5p13 microduplication syndrome |
| 329813 | Mosaic genome-wide paternal uniparental disomy |
| 329874 | Idiopathic giant cell myocarditis |
| 329883 | Non-hypoproteinemic hypertrophic gastropathy |
| 329894 | Juvenile overlap myositis |
| 3299 | Tetanus |
| 329903 | Immunoglobulin-mediated membranoproliferative glomerulonephritis |
| 329918 | C3 glomerulopathy |
| 329931 | C3 glomerulonephritis |
| 329942 | Transient neonatal multiple acyl-CoA dehydrogenase deficiency |
| 329967 | Intermittent hydrarthrosis |
| 329971 | Generalized juvenile polyposis/juvenile polyposis coli |
| 329977 | Classic neuroendocrine tumor of appendix |
| 329984 | Goblet cell carcinoma |
| 33 | Isovaleric acidemia |
| 330 | Congenital factor XII deficiency |
| 330001 | Wild type ATTR amyloidosis |
| 33001 | Lymphedema-distichiasis syndrome |
| 330012 | High altitude pulmonary edema |
| 330015 | Lead poisoning |
| 330021 | Mercury poisoning |
| 330029 | Hypotrichosis-deafness syndrome |
| 330032 | Hemoglobin Lepore-beta-thalassemia syndrome |
| 330041 | Hemoglobin M disease |
| 330050 | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect |
| 330054 | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome |
| 330058 | Hydroa vacciniforme |
| 330061 | Actinic prurigo |
| 330064 | Chronic actinic dermatitis |
| 3301 | Tetraamelia-multiple malformations syndrome |
| 3303 | Tetralogy of Fallot |
| 3304 | Fallot complex-intellectual disability-growth delay syndrome |
| 3305 | Tetraploidy |
| 3306 | Inverted duplicated chromosome 15 syndrome |
| 33067 | Metaphyseal chondrodysplasia, Jansen type |
| 33069 | Dravet syndrome |
| 3307 | Tetrasomy 18p |
| 3309 | Tetrasomy 5p |
| 331 | Congenital factor XIII deficiency |
| 3310 | Tetrasomy 9p |
| 33108 | Lethal multiple pterygium syndrome |
| 33110 | Autosomal agammaglobulinemia |
| 33111 | Granulomatous slack skin |
| 331176 | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency |
| 331187 | Immunodeficiency due to MASP-2 deficiency |
| 331190 | Immunodeficiency due to ficolin3 deficiency |
| 3312 | Thalidomide embryopathy |
| 331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency |
| 331226 | Susceptibility to infection due to TYK2 deficiency |
| 331235 | Selective IgM deficiency |
| 3314 | Thiemann disease, familial form |
| 3316 | Thomas syndrome |
| 3317 | Thoracolaryngopelvic dysplasia |
| 3318 | Essential thrombocythemia |
| 3319 | Congenital amegakaryocytic thrombocytopenia |
| 332 | Congenital intrinsic factor deficiency |
| 3320 | Thrombocytopenia-absent radius syndrome |
| 33208 | Idiopathic hypersomnia |
| 3322 | Hoyeraal-Hreidarsson syndrome |
| 33226 | Waldenström macroglobulinemia |
| 3324 | Familial thrombomodulin anomalies |
| 3325 | Heparin-induced thrombocytopenia |
| 3326 | Thymic-renal-anal-lung dysplasia |
| 3327 | Thyrocerebrorenal syndrome |
| 33276 | Kaposi sarcoma |
| 3328 | Absent tibia-polydactyly-arachnoid cyst syndrome |
| 3329 | Tibial aplasia-ectrodactyly syndrome |
| 333 | Farber disease |
| 33314 | Jessner lymphocytic infiltration of the skin |
| 33355 | Reticular dysgenesis |
| 33364 | Trichothiodystrophy |
| 3337 | Primary Fanconi renotubular syndrome |
| 3338 | Toriello-Carey syndrome |
| 3339 | Toriello-Lacassie-Droste syndrome |
| 334 | Familial atrial fibrillation |
| 33402 | Pediatric hepatocellular carcinoma |
| 33408 | Bullous lichen planus |
| 3341 | Torticollis-keloids-cryptorchidism-renal dysplasia syndrome |
| 3342 | Arterial tortuosity syndrome |
| 3343 | Toxocariasis |
| 3344 | Weismann-Netter syndrome |
| 33445 | Neuroectodermal melanolysosomal disease |
| 3346 | Tracheal agenesis |
| 3347 | Mounier-Kühn syndrome |
| 33475 | Meningococcal meningitis |
| 3348 | Tracheobronchopathia osteochondroplastica |
| 335 | Congenital fibrinogen deficiency |
| 3350 | Tremor-nystagmus-duodenal ulcer syndrome |
| 3351 | Trichodental syndrome |
| 3352 | Tricho-dento-osseous syndrome |
| 3353 | Trichodermodysplasia-dental alterations syndrome |
| 33543 | Kleine-Levin syndrome |
| 3355 | Trichoodontoonychial dysplasia |
| 33572 | 5-oxoprolinase deficiency |
| 33573 | Gamma-glutamyl transpeptidase deficiency |
| 33574 | Glutamate-cysteine ligase deficiency |
| 33577 | Nodular non-suppurative panniculitis |
| 3361 | Trichodysplasia-xeroderma syndrome |
| 3363 | Trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
| 3365 | Trigonocephaly-broad thumbs syndrome |
| 3366 | Non-syndromic metopic craniosynostosis |
| 3368 | Trigonocephaly-bifid nose-acral anomalies syndrome |
| 3369 | Trigonocephaly-short stature-developmental delay syndrome |
| 337 | Fibrodysplasia ossificans progressiva |
| 3374 | Unilateral ocular duplication |
| 3375 | Trisomy X |
| 3376 | Triploidy |
| 3377 | Trismus-pseudocamptodactyly syndrome |
| 3378 | Trisomy 13 |
| 3379 | Distal duplication 17q |
| 3380 | Trisomy 18 |
| 3383 | Humerus trochlea aplasia |
| 3384 | Truncus arteriosus |
| 3385 | African trypanosomiasis |
| 3386 | American trypanosomiasis |
| 3387 | Isolated anterior cervical hypertrichosis |
| 3392 | Tularemia |
| 340 | Hemorrhagic fever-renal syndrome |
| 3400 | Aorto-ventricular tunnel |
| 3402 | Transient tyrosinemia of the newborn |
| 3403 | Uhl anomaly |
| 3404 | Ulbright-Hodes syndrome |
| 3405 | Umbilical cord ulceration-intestinal atresia syndrome |
| 3406 | Ulerythema ophryogenesis |
| 3408 | Upington disease |
| 3409 | Urban-Rogers-Meyer syndrome |
| 3411 | Double uterus-hemivagina-renal agenesis syndrome |
| 3412 | VACTERL with hydrocephalus |
| 34149 | Autosomal dominant tubulointerstitial kidney disease |
| 3416 | Hyperostosis corticalis generalisata |
| 3417 | Van den Bosch syndrome |
| 342 | Familial Mediterranean fever |
| 34217 | Naxos disease |
| 3424 | Velo-facial-skeletal syndrome |
| 3426 | Double outlet right ventricle |
| 3427 | Double outlet left ventricle |
| 3429 | Verloove Vanhorick-Brubakk syndrome |
| 343 | Hyperimmunoglobulinemia D with periodic fever |
| 3433 | Microcephaly-brachydactyly-kyphoscoliosis syndrome |
| 3434 | MMEP syndrome |
| 3437 | Vogt-Koyanagi-Harada disease |
| 3439 | Von Voss-Cherstvoy syndrome |
| 3440 | Waardenburg syndrome |
| 3447 | Weaver syndrome |
| 3448 | Weaver-Williams syndrome |
| 3449 | Weill-Marchesani syndrome |
| 345 | Dissecting cellulitis of the scalp |
| 3451 | Infantile spasms syndrome |
| 34514 | Telethonin-related limb-girdle muscular dystrophy R7 |
| 34515 | FKRP-related limb-girdle muscular dystrophy R9 |
| 34516 | DNAJB6-related limb-girdle muscular dystrophy D1 |
| 3452 | Whipple disease |
| 34520 | Congenital muscular dystrophy with integrin alpha-7 deficiency |
| 34528 | Autosomal dominant primary hypomagnesemia with hypocalciuria |
| 3453 | Autoimmune polyendocrinopathy type 1 |
| 3454 | Intellectual disability-developmental delay-contractures syndrome |
| 3455 | Wiedemann-Rautenstrauch syndrome |
| 3456 | Wildervanck syndrome |
| 34587 | Glycogen storage disease due to LAMP-2 deficiency |
| 3459 | Wilson-Turner syndrome |
| 34592 | Immunodeficiency by defective expression of MHC class I |
| 346 | Quinquaud folliculitis decalvans |
| 3463 | Wolfram syndrome |
| 3464 | Woodhouse-Sakati syndrome |
| 3465 | Worster-Drought syndrome |
| 3466 | WT limb-blood syndrome |
| 3467 | Hereditary xanthinuria |
| 3469 | XK aprosencephaly syndrome |
| 347 | Frasier syndrome |
| 3471 | Young syndrome |
| 3472 | Yunis-Varon syndrome |
| 3473 | Zimmermann-Laband syndrome |
| 3474 | CHIME syndrome |
| 348 | Fructose-1,6-bisphosphatase deficiency |
| 349 | Fucosidosis |
| 35 | Propionic acidemia |
| 35062 | Severe disseminated cytomegalovirus infection in immunocompetent patients |
| 35063 | Fulminant viral hepatitis |
| 35069 | Infantile neuroaxonal dystrophy |
| 35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency |
| 35093 | Non-syndromic sagittal craniosynostosis |
| 35099 | Non-syndromic bicoronal craniosynostosis |
| 351 | Galactosialidosis |
| 35107 | Desmosterolosis |
| 35120 | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| 35121 | Lysosomal acid phosphatase deficiency |
| 35122 | Congenital sucrase-isomaltase deficiency |
| 35125 | Epidermal nevus syndrome |
| 35173 | X-linked dominant chondrodysplasia punctata |
| 352328 | MEGDEL syndrome |
| 352333 | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome |
| 352403 | Spectrin-associated autosomal recessive cerebellar ataxia |
| 352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome |
| 352470 | DNA2-related mitochondrial DNA deletion syndrome |
| 352479 | ISPD-related limb-girdle muscular dystrophy R20 |
| 352490 | Autism spectrum disorder due to AUTS2 deficiency |
| 352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome |
| 352540 | Oncogenic osteomalacia |
| 352563 | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency |
| 352577 | Bainbridge-Ropers syndrome |
| 352582 | Familial infantile myoclonic epilepsy |
| 352587 | Focal epilepsy-intellectual disability-cerebro-cerebellar malformation |
| 352596 | Progressive myoclonic epilepsy with dystonia |
| 352629 | 16q24.1 microdeletion syndrome |
| 352636 | Phalangeal microgeodic syndrome |
| 352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity |
| 352649 | Brain dopamine-serotonin vesicular transport disease |
| 352654 | Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome |
| 352657 | Hereditary benign intraepithelial dyskeratosis |
| 352662 | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome |
| 352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion |
| 352670 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type F |
| 352675 | X-linked Charcot-Marie-Tooth disease type 6 |
| 352682 | Cobblestone lissencephaly without muscular or ocular involvement |
| 352709 | CLN13 disease |
| 352712 | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome |
| 352718 | Progressive retinal dystrophy due to retinol transport defect |
| 352723 | Attenuated Chédiak-Higashi syndrome |
| 352731 | Oculocutaneous albinism type 1 |
| 352734 | Minimal pigment oculocutaneous albinism type 1 |
| 352737 | Temperature-sensitive oculocutaneous albinism type 1 |
| 352745 | Oculocutaneous albinism type 7 |
| 352763 | Scleredema |
| 353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 |
| 353217 | Epileptic encephalopathy with global cerebral demyelination |
| 353220 | Familial primary localized cutaneous amyloidosis |
| 353253 | Burning mouth syndrome |
| 353277 | Rubinstein-Taybi syndrome due to CREBBP mutations |
| 353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion |
| 353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| 353298 | Roifman syndrome |
| 353308 | Pyruvate carboxylase deficiency, infantile type |
| 353314 | Pyruvate carboxylase deficiency, severe neonatal type |
| 353320 | Pyruvate carboxylase deficiency, benign type |
| 353327 | Congenital myasthenic syndromes with glycosylation defect |
| 353334 | Congenital retinal arteriovenous communication |
| 353344 | Idiopathic macular telangiectasia type 1 |
| 353351 | Idiopathic macular telangiectasia type 3 |
| 353356 | Vasoproliferative tumor of the retina |
| 354 | GM1 gangliosidosis |
| 355 | Gaucher disease |
| 356 | Gerstmann-Straussler-Scheinker syndrome |
| 35612 | Nanophthalmos |
| 35664 | ALDH18A1-related De Barsy syndrome |
| 35686 | Serpiginous choroiditis |
| 35687 | Erdheim-Chester disease |
| 35689 | Primary lateral sclerosis |
| 356947 | 3q26q27 microdeletion syndrome |
| 356961 | SLC35A2-CDG |
| 356978 | D,L-2-hydroxyglutaric aciduria |
| 356996 | ANK3-related intellectual disability-sleep disturbance syndrome |
| 357001 | 19p13.13 microdeletion syndrome |
| 357008 | Hemolytic uremic syndrome with DGKE deficiency |
| 35701 | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| 357027 | Hereditary retinoblastoma |
| 357034 | Non-hereditary retinoblastoma |
| 35704 | L-Arginine:glycine amidinotransferase deficiency |
| 357043 | Amyotrophic lateral sclerosis type 4 |
| 357058 | Autosomal recessive cutis laxa type 2A |
| 35706 | Glutaric acidemia type 3 |
| 357064 | Autosomal recessive cutis laxa type 2B |
| 357074 | Autosomal recessive cutis laxa type 2, classic type |
| 35708 | Aromatic L-amino acid decarboxylase deficiency |
| 35710 | Glucose-galactose malabsorption |
| 357107 | Arterial thoracic outlet syndrome |
| 357131 | Venous thoracic outlet syndrome |
| 357154 | Oral submucous fibrosis |
| 357158 | Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome |
| 357175 | Short ulna-dysmorphism-hypotonia-intellectual disability syndrome |
| 357220 | Primary essential cutis verticis gyrata |
| 357225 | Primary non-essential cutis verticis gyrata |
| 357237 | Severe combined immunodeficiency due to CARD11 deficiency |
| 357329 | Combined immunodeficiency due to IL21R deficiency |
| 357332 | Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome |
| 35737 | Morning glory disc anomaly |
| 358 | Gitelman syndrome |
| 35858 | Imerslund-Gräsbeck syndrome |
| 35878 | Hyperinsulinism-hyperammonemia syndrome |
| 35889 | Acute opioid intoxication |
| 35909 | Combined deficiency of factor V and factor VIII |
| 36 | Acrocallosal syndrome |
| 360 | Glioblastoma |
| 361 | Familial glucocorticoid deficiency |
| 36234 | Bacterial toxic-shock syndrome |
| 36235 | Staphylococcal scarlet fever |
| 36236 | Staphylococcal scalded skin syndrome |
| 36237 | Bullous impetigo |
| 36238 | Staphylococcal necrotizing pneumonia |
| 36258 | Buerger disease |
| 36273 | Gastric linitis plastica |
| 363396 | High myopia-sensorineural deafness syndrome |
| 363400 | Severe neurodegenerative syndrome with lipodystrophy |
| 363409 | Fetal akinesia-cerebral and retinal hemorrhage syndrome |
| 363412 | Hypomyelination with brain stem and spinal cord involvement and leg spasticity |
| 363417 | Temtamy preaxial brachydactyly syndrome |
| 363424 | Multiple mitochondrial dysfunctions syndrome type 3 |
| 363429 | Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome |
| 363432 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency |
| 363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
| 363447 | Autosomal dominant childhood-onset proximal spinal muscular atrophy |
| 363454 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy |
| 363478 | Paratesticular adenocarcinoma |
| 363483 | Testicular teratoma |
| 363489 | Sex cord-stromal tumor of testis |
| 363494 | Non-seminomatous germ cell tumor of testis |
| 363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome |
| 363528 | Intellectual disability-strabismus syndrome |
| 363534 | Mitochondrial DNA depletion syndrome, hepatocerebrorenal form |
| 363540 | Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
| 363549 | Acute encephalopathy with biphasic seizures and late reduced diffusion |
| 36355 | Bleeding disorder due to P2Y12 defect |
| 363558 | New-onset refractory status epilepticus |
| 363611 | CTCF-related neurodevelopmental disorder |
| 363618 | LMNA-related cardiocutaneous progeria syndrome |
| 363623 | GMPPB-related limb-girdle muscular dystrophy R19 |
| 363649 | Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome |
| 363654 | X-linked parkinsonism-spasticity syndrome |
| 363659 | 20q11.2 microduplication syndrome |
| 363665 | Acroosteolysis-keloid-like lesions-premature aging syndrome |
| 36367 | Distal deletion 1q |
| 363677 | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
| 363680 | 2p13.2 microdeletion syndrome |
| 363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome |
| 363694 | Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome |
| 363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion |
| 363705 | Craniofaciofrontodigital syndrome |
| 363710 | Spinocerebellar ataxia type 37 |
| 363717 | Alexander disease type I |
| 363722 | Alexander disease type II |
| 363727 | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia |
| 363741 | Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome |
| 363746 | Balint syndrome |
| 36382 | Familial cervical artery dissection |
| 36383 | COL4A1-related familial vascular leukoencephalopathy |
| 36386 | Hereditary sensory and autonomic neuropathy type 1 |
| 36387 | Generalized epilepsy with febrile seizures-plus |
| 363958 | 17q21.31 microdeletion syndrome |
| 363965 | Koolen-De Vries syndrome due to a point mutation |
| 363969 | Autosomal recessive cerebral atrophy |
| 36397 | Adiposis dolorosa |
| 363972 | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia |
| 363976 | Giant cell tumor of bone |
| 363981 | Charcot-Marie-Tooth disease type 4B3 |
| 363989 | Familial benign flecked retina |
| 363992 | Ichthyosis-short stature-brachydactyly-microspherophakia syndrome |
| 363999 | Non-immune hydrops fetalis |
| 364 | Glycogen storage disease due to glucose-6-phosphatase deficiency |
| 364013 | Immune hydrops fetalis |
| 364028 | X-linked intellectual disability due to GRIA3 mutations |
| 364033 | Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood |
| 364039 | Hydroa vacciniforme-like lymphoma |
| 364043 | ALK-positive large B-cell lymphoma |
| 364055 | Severe early-childhood-onset retinal dystrophy |
| 364063 | Infantile epileptic-dyskinetic encephalopathy |
| 36412 | Hypocomplementemic urticarial vasculitis |
| 364198 | Bipartite talus |
| 36426 | Stevens-Johnson syndrome |
| 364577 | Intellectual disability-brachydactyly-Pierre Robin syndrome |
| 365 | Glycogen storage disease due to acid maltase deficiency |
| 366 | Glycogen storage disease due to glycogen debranching enzyme deficiency |
| 367 | Glycogen storage disease due to glycogen branching enzyme deficiency |
| 368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency |
| 36899 | Myoclonus-dystonia syndrome |
| 369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency |
| 36913 | Autoimmune hypoparathyroidism |
| 369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome |
| 369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 |
| 369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome |
| 369852 | Congenital neutropenia-myelofibrosis-nephromegaly syndrome |
| 369861 | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
| 369867 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type C |
| 369873 | Obesity due to SIM1 deficiency |
| 369881 | 2p21 microdeletion syndrome without cystinuria |
| 369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency |
| 369897 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies |
| 369913 | Combined oxidative phosphorylation defect type 17 |
| 369920 | Pontocerebellar hypoplasia type 9 |
| 369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome |
| 369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome |
| 369942 | CADDS |
| 369950 | Intellectual disability-seizures-macrocephaly-obesity syndrome |
| 369955 | Methylmalonic acidemia with homocystinuria, type cblJ |
| 369962 | Methylmalonic acidemia with homocystinuria, type cblX |
| 369970 | Microcornea-myopic chorioretinal atrophy-telecanthus syndrome |
| 369979 | Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome |
| 369992 | Severe dermatitis-multiple allergies-metabolic wasting syndrome |
| 369999 | Diffuse palmoplantar keratoderma with painful fissures |
| 37 | Acrodermatitis enteropathica |
| 370002 | Focal palmoplantar keratoderma with joint keratoses |
| 370010 | Intellectual disability-facial dysmorphism-hand anomalies syndrome |
| 370015 | Spondyloepimetaphyseal dysplasia, Isidor-Toutain type |
| 370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome |
| 370026 | Acute myeloid leukemia with t(8;16)(p11;p13) translocation |
| 370034 | Familial syringomyelia |
| 370039 | Angora hair nevus |
| 370046 | Didymosis aplasticosebacea |
| 370052 | SCALP syndrome |
| 370059 | NEVADA syndrome |
| 370076 | Fetal carbamazepine syndrome |
| 370079 | Proximal 16p11.2 microduplication syndrome |
| 370088 | Acute infantile liver failure-multisystemic involvement syndrome |
| 370091 | Oculocutaneous albinism type 5 |
| 370097 | Oculocutaneous albinism type 6 |
| 370103 | Primary dystonia, DYT17 type |
| 370109 | Ataxia-telangiectasia variant |
| 370127 | Medich giant platelet syndrome |
| 370131 | White platelet syndrome |
| 370334 | Extraskeletal Ewing sarcoma |
| 370348 | Peripheral primitive neuroectodermal tumor |
| 370396 | Small cell carcinoma of the ovary |
| 37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome |
| 370921 | STT3A-CDG |
| 370924 | STT3B-CDG |
| 370927 | SSR4-CDG |
| 370930 | XYLT1-CDG |
| 370933 | GM3 synthase deficiency |
| 370943 | Autism spectrum disorder-epilepsy-arthrogryposis syndrome |
| 370959 | Congenital muscular dystrophy with cerebellar involvement |
| 370968 | Congenital muscular dystrophy with intellectual disability |
| 370980 | Congenital muscular dystrophy without intellectual disability |
| 370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy |
| 371 | Glycogen storage disease due to muscle phosphofructokinase deficiency |
| 371007 | Congenital muscular dystrophy with hyperlaxity |
| 371364 | Hypotonia-speech impairment-severe cognitive delay syndrome |
| 371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum |
| 37202 | Interstitial cystitis |
| 373 | Simpson-Golabi-Behmel syndrome |
| 375 | Anti-glomerular basement membrane disease |
| 37553 | Andersen-Tawil syndrome |
| 37559 | Acquired kinky hair syndrome |
| 376 | Gordon syndrome |
| 37612 | Episodic ataxia type 1 |
| 377 | Gorlin syndrome |
| 37748 | Schnitzler syndrome |
| 379 | Chronic granulomatous disease |
| 38 | Acrokeratoelastoidosis of Costa |
| 380 | Greig cephalopolysyndactyly syndrome |
| 381 | Griscelli syndrome |
| 382 | Guanidinoacetate methyltransferase deficiency |
| 384 | Huriez syndrome |
| 386 | Hepatic cystic hamartoma |
| 388 | Hirschsprung disease |
| 38874 | Dihydropyrimidinuria |
| 389 | Langerhans cell histiocytosis |
| 39 | Acromelanosis |
| 390 | Histoplasmosis |
| 39041 | Omenn syndrome |
| 39044 | Uveal melanoma |
| 391 | Classic Hodgkin lymphoma |
| 391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |
| 391311 | Susceptibility to viral and mycobacterial infections due to STAT1 deficiency |
| 391316 | Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression |
| 391320 | East Texas bleeding disorder |
| 391327 | X-linked calvarial hyperostosis |
| 391330 | X-linked osteoporosis with fractures |
| 391343 | Fatal post-viral neurodegenerative disorder |
| 391348 | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome |
| 391351 | SURF1-related Charcot-Marie-Tooth disease type 4 |
| 391366 | Growth retardation-mild developmental delay-chronic hepatitis syndrome |
| 391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| 391376 | Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome |
| 391384 | Familial episodic pain syndrome |
| 391389 | Familial episodic pain syndrome with predominantly upper body involvement |
| 391392 | Familial episodic pain syndrome with predominantly lower limb involvement |
| 391397 | Hereditary sensory and autonomic neuropathy type 7 |
| 391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome |
| 391411 | Atypical juvenile parkinsonism |
| 391417 | HSD10 disease |
| 391428 | HSD10 disease, infantile type |
| 391457 | HSD10 disease, neonatal type |
| 391474 | Frontorhiny |
| 391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome |
| 391490 | Adult-onset myasthenia gravis |
| 391497 | Juvenile myasthenia gravis |
| 391504 | Transient neonatal myasthenia gravis |
| 391641 | Feingold syndrome type 1 |
| 391646 | Feingold syndrome type 2 |
| 391651 | Glomus tumor |
| 391655 | Off-periods in Parkinson disease not responding to oral treatment |
| 391665 | Homozygous familial hypercholesterolemia |
| 391673 | Necrotizing enterocolitis |
| 391677 | Short stature-optic atrophy-Pelger-Huët anomaly syndrome |
| 391723 | Mucinous adenocarcinoma of the appendix |
| 392 | Holt-Oram syndrome |
| 393 | 46,XX testicular difference of sex development |
| 394 | Classic homocystinuria |
| 394529 | Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type |
| 394532 | Multiple acyl-CoA dehydrogenase deficiency, mild type |
| 395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency |
| 396 | Chronic hiccup |
| 397 | Giant cell arteritis |
| 397587 | Deep dermatophytosis |
| 397590 | Silver-Russell syndrome due to a point mutation |
| 397593 | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency |
| 397596 | Activated PI3K-delta syndrome |
| 397606 | PrP systemic amyloidosis |
| 397612 | Macrocephaly-developmental delay syndrome |
| 397615 | Obesity due to CEP19 deficiency |
| 397618 | Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome |
| 397623 | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome |
| 397685 | Familial hyperprolactinemia |
| 397692 | Hereditary isolated aplastic anemia |
| 397695 | 3q27.3 microdeletion syndrome |
| 397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome |
| 397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy |
| 397725 | COASY protein-associated neurodegeneration |
| 397735 | Autosomal dominant Charcot-Marie-Tooth disease type 2U |
| 397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome |
| 397750 | Periodic paralysis with later-onset distal motor neuropathy |
| 397755 | Periodic paralysis with transient compartment-like syndrome |
| 397758 | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies |
| 397787 | Severe combined immunodeficiency due to IKK2 deficiency |
| 397922 | Ferro-cerebro-cutaneous syndrome |
| 397927 | Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome |
| 397933 | Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome |
| 397937 | Polyglucosan body myopathy type 1 |
| 397941 | MAN1B1-CDG |
| 397946 | Autosomal spastic paraplegia type 58 |
| 397951 | Microcephaly-thin corpus callosum-intellectual disability syndrome |
| 397959 | TCR-alpha-beta-positive T-cell deficiency |
| 397964 | Combined immunodeficiency due to MALT1 deficiency |
| 397968 | Charcot-Marie-Tooth disease type 2R |
| 397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome |
| 398053 | Adenocarcinoma of the penis |
| 398058 | Squamous cell carcinoma of the penis |
| 398063 | Refractory celiac disease |
| 398069 | MAGEL2-related Prader-Willi-like syndrome |
| 398079 | SIM1-related Prader-Willi-like syndrome |
| 398088 | Hereditary cryohydrocytosis with normal stomatin |
| 398097 | Neonatal antiphospholipid syndrome |
| 398109 | Neonatal autoimmune hemolytic anemia |
| 398117 | Neonatal dermatomyositis |
| 39812 | Graft versus host disease |
| 398124 | Neonatal lupus erythematosus |
| 398127 | Neonatal scleroderma |
| 398147 | Persistent idiopathic facial pain |
| 398156 | Oculoauriculofrontonasal syndrome |
| 398166 | Focal facial dermal dysplasia |
| 398173 | Focal facial dermal dysplasia type II |
| 398189 | Focal facial dermal dysplasia type IV |
| 398961 | Mucinous adenocarcinoma of ovary |
| 398971 | Clear cell adenocarcinoma of the ovary |
| 398987 | Malignant teratoma of ovary |
| 399 | Huntington disease |
| 399058 | Alpha-B crystallin-related late-onset myopathy |
| 399081 | KLHL9-related early-onset distal myopathy |
| 399086 | Finnish upper limb-onset distal myopathy |
| 399096 | Distal anoctaminopathy |
| 399103 | Distal nebulin myopathy |
| 399175 | Traumatic avascular necrosis |
| 399180 | Secondary non-traumatic avascular necrosis |
| 399293 | Osteonecrosis of the jaw |
| 399307 | Idiopathic avascular necrosis |
| 399329 | Epiphysiolysis of the hip |
| 399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| 399808 | Male infertility with teratozoospermia due to single gene mutation |
| 40 | Acromesomelic dysplasia, Maroteaux type |
| 400 | Cystic echinococcosis |
| 401 | Hymenolepiasis |
| 401764 | Pancytopenia-developmental delay syndrome |
| 401768 | Proximal myopathy with extrapyramidal signs |
| 401777 | Optic atrophy-intellectual disability syndrome |
| 401780 | Autosomal recessive spastic paraplegia type 61 |
| 401785 | Autosomal recessive spastic paraplegia type 62 |
| 401795 | Autosomal recessive spastic paraplegia type 59 |
| 401800 | Autosomal recessive spastic paraplegia type 60 |
| 401805 | Autosomal recessive spastic paraplegia type 63 |
| 401810 | Autosomal recessive spastic paraplegia type 64 |
| 401815 | Autosomal recessive spastic paraplegia type 66 |
| 401820 | Autosomal recessive spastic paraplegia type 67 |
| 401830 | Autosomal recessive spastic paraplegia type 69 |
| 401835 | Autosomal recessive spastic paraplegia type 70 |
| 401840 | Autosomal recessive spastic paraplegia type 71 |
| 401849 | Autosomal spastic paraplegia type 72 |
| 401859 | Lipoic acid synthetase deficiency |
| 401862 | Lipoyl transferase 1 deficiency |
| 401866 | Childhood-onset spasticity with hyperglycinemia |
| 401869 | Multiple mitochondrial dysfunctions syndrome type 1 |
| 401874 | Multiple mitochondrial dysfunctions syndrome type 2 |
| 401901 | Huntington disease-like syndrome due to C9ORF72 expansions |
| 401911 | AXIN2-related attenuated familial adenomatous polyposis |
| 401920 | Fibrolamellar hepatocellular carcinoma |
| 401923 | 9q31.1q31.3 microdeletion syndrome |
| 401935 | 14q24.1q24.3 microdeletion syndrome |
| 401942 | Familial median cleft of the upper and lower lips |
| 401945 | Moyamoya disease with early-onset achalasia |
| 401948 | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
| 401953 | Episodic ataxia with slurred speech |
| 401959 | Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome |
| 401964 | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons |
| 401973 | MEND syndrome |
| 401979 | Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type |
| 401986 | 1p31p32 microdeletion syndrome |
| 401996 | Karyomegalic interstitial nephritis |
| 402003 | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering |
| 402014 | Acute myeloid leukemia with t(6;9)(p23;q34) |
| 402017 | Acute myeloid leukemia with t(9;11)(p22;q23) |
| 402020 | Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) |
| 402023 | Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) |
| 402026 | Acute myeloid leukemia with NPM1 somatic mutations |
| 402035 | Eosinophilic colitis |
| 402041 | Autosomal recessive distal renal tubular acidosis |
| 402075 | Familial bicuspid aortic valve |
| 402082 | Progressive myoclonic epilepsy type 5 |
| 402364 | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
| 402823 | Hepatitis delta |
| 403 | Familial hyperaldosteronism type I |
| 40366 | Acitretin/etretinate embryopathy |
| 404 | Familial hyperaldosteronism type II |
| 404437 | Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome |
| 404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| 404443 | Tatton-Brown-Rahman syndrome |
| 404448 | ADNP syndrome |
| 404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome |
| 404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome |
| 404463 | Multisystemic smooth muscle dysfunction syndrome |
| 404466 | Female infertility due to zona pellucida defect |
| 404473 | Severe intellectual disability-progressive spastic diplegia syndrome |
| 404476 | Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome |
| 404493 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency |
| 404499 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency |
| 404507 | Chondromyxoid fibroma |
| 404511 | Clear cell papillary renal cell carcinoma |
| 404514 | Acquired cystic disease-associated renal cell carcinoma |
| 404521 | Spinal muscular atrophy with respiratory distress type 2 |
| 404546 | DITRA |
| 404553 | Vasculitis due to ADA2 deficiency |
| 404560 | Familial atypical multiple mole melanoma syndrome |
| 405 | Familial hypocalciuric hypercalcemia |
| 407 | Glycine encephalopathy |
| 408 | Isolated glycerol kinase deficiency |
| 409 | Hyperkeratosis lenticularis perstans |
| 40923 | Eales disease |
| 41 | Dyschromatosis symmetrica hereditaria |
| 411493 | Pontocerebellar hypoplasia type 10 |
| 411501 | Williams-Campbell syndrome |
| 411511 | Angelman syndrome due to a point mutation |
| 411515 | Angelman syndrome due to imprinting defect in 15q11-q13 |
| 411527 | Central retinal vein occlusion |
| 411536 | Mild phosphoribosylpyrophosphate synthetase superactivity |
| 411543 | Severe phosphoribosylpyrophosphate synthetase superactivity |
| 411590 | Wolfram-like syndrome |
| 411593 | Insulin autoimmune syndrome |
| 411602 | Hereditary late-onset Parkinson disease |
| 411629 | Infantile nephropathic cystinosis |
| 411634 | Juvenile nephropathic cystinosis |
| 411641 | Ocular cystinosis |
| 411696 | Proton-pump inhibitor-responsive esophageal eosinophilia |
| 411703 | Pulmonary non-tuberculous mycobacterial infection |
| 411709 | Renal agenesis |
| 411712 | Maternal riboflavin deficiency |
| 411777 | Generalized eruptive keratoacanthoma |
| 411788 | Familial isolated trichomegaly |
| 411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome |
| 412 | Dysbetalipoproteinemia |
| 412022 | Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome |
| 412035 | 13q12.3 microdeletion syndrome |
| 412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency |
| 412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments |
| 412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome |
| 412181 | Epidermolysis bullosa simplex due to BP230 deficiency |
| 412189 | Epidermolysis bullosa simplex due to exophilin 5 deficiency |
| 412206 | Primary failure of tooth eruption |
| 412217 | Dystonia-aphonia syndrome |
| 414 | Gyrate atrophy of choroid and retina |
| 415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| 416 | Primary hyperoxaluria |
| 417 | Neonatal severe primary hyperparathyroidism |
| 41751 | Bietti crystalline dystrophy |
| 418945 | Carcinoma of esophagus, salivary gland type |
| 418951 | Undifferentiated carcinoma of esophagus |
| 418959 | Squamous cell carcinoma of the stomach |
| 419 | Hyperprolinemia type 1 |
| 42 | Medium chain acyl-CoA dehydrogenase deficiency |
| 420179 | Malan overgrowth syndrome |
| 420259 | Secondary pulmonary alveolar proteinosis |
| 420402 | Semicircular canal dehiscence syndrome |
| 420429 | Glycogen storage disease due to acid maltase deficiency, late-onset |
| 420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement |
| 420492 | Adult-onset cervical dystonia, DYT23 type |
| 420556 | Visual snow syndrome |
| 420561 | Temple-Baraitser syndrome |
| 420566 | Bleeding disorder due to CalDAG-GEFI deficiency |
| 420573 | Severe combined immunodeficiency due to CTPS1 deficiency |
| 420584 | Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
| 420611 | Transient myeloproliferative syndrome |
| 42062 | Iminoglycinuria |
| 420686 | Woolly hair-palmoplantar keratoderma syndrome |
| 420699 | Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency |
| 420702 | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency |
| 420728 | Combined oxidative phosphorylation defect type 20 |
| 420733 | Combined oxidative phosphorylation defect type 21 |
| 420741 | RIDDLE syndrome |
| 420789 | Autoimmune encephalopathy with parasomnia and obstructive sleep apnea |
| 420794 | Cono-spondylar dysplasia |
| 422 | Idiopathic/heritable pulmonary arterial hypertension |
| 422526 | Hereditary clear cell renal cell carcinoma |
| 423 | Malignant hyperthermia of anesthesia |
| 423275 | Spinocerebellar ataxia type 40 |
| 423296 | Spinocerebellar ataxia type 38 |
| 423306 | Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome |
| 423384 | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency |
| 423454 | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome |
| 423461 | Mucolipidosis type III alpha/beta |
| 423470 | Mucolipidosis type III gamma |
| 423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome |
| 423693 | Double outlet right ventricle with subaortic or doubly committed ventricular septal defect |
| 423712 | Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy |
| 423717 | Cutaneous larva migrans |
| 423786 | Undifferentiated carcinoma of stomach |
| 423894 | Microcephaly-complex motor and sensory axonal neuropathy syndrome |
| 423968 | Squamous cell carcinoma of the small intestine |
| 423994 | Squamous cell carcinoma of the colon |
| 424 | Familial hyperthyroidism due to mutations in TSH receptor |
| 424002 | Squamous cell carcinoma of the rectum |
| 424016 | Adenocarcinoma of the anal canal |
| 424019 | Squamous cell carcinoma of the anal canal |
| 424027 | Progressive myoclonic epilepsy type 8 |
| 424039 | Squamous cell carcinoma of pancreas |
| 424046 | Acinar cell carcinoma of pancreas |
| 424053 | Mucinous cystadenocarcinoma of the pancreas |
| 424058 | Intraductal papillary mucinous carcinoma of pancreas |
| 424065 | Solid pseudopapillary carcinoma of pancreas |
| 424073 | Serous cystadenocarcinoma of pancreas |
| 424080 | Undifferentiated carcinoma with osteoclast-like giant cells of pancreas |
| 424099 | Colobomatous microphthalmia-rhizomelic dysplasia syndrome |
| 424107 | Congenital myopathy with myasthenic-like onset |
| 424261 | TOR1AIP1-related limb-girdle muscular dystrophy |
| 424943 | Adenocarcinoma of the liver and intrahepatic biliary tract |
| 424970 | Undifferentiated carcinoma of liver and intrahepatic biliary tract |
| 424975 | Squamous cell carcinoma of liver and intrahepatic biliary tract |
| 424982 | Biliary cystadenocarcinoma |
| 424991 | Adenocarcinoma of the gallbladder and extrahepatic biliary tract |
| 424996 | Squamous cell carcinoma of gallbladder and extrahepatic biliary tract |
| 425 | Apolipoprotein A-I deficiency |
| 425120 | STING-associated vasculopathy with onset in infancy |
| 42642 | PFAPA syndrome |
| 42665 | Tietz syndrome |
| 427 | Familial hypoaldosteronism |
| 42775 | PHACE syndrome |
| 428 | Autosomal dominant hypocalcemia |
| 429 | Hypochondroplasia |
| 43 | X-linked adrenoleukodystrophy |
| 431140 | X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome |
| 431149 | Combined immunodeficiency due to OX40 deficiency |
| 43115 | Hereditary myopathy with lactic acidosis due to ISCU deficiency |
| 43116 | Serotonin syndrome |
| 431166 | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
| 43117 | Acute tricyclic antidepressant poisoning |
| 43119 | Acute poisoning by drugs with membrane-stabilizing effect |
| 431255 | Scapuloperoneal spinal muscular atrophy |
| 431272 | X-linked scapuloperoneal muscular dystrophy |
| 431329 | Autosomal recessive spastic paraplegia type 57 |
| 431341 | Patent urachus |
| 431344 | Urachal sinus |
| 431347 | Urachal diverticulum |
| 431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency |
| 432 | Normosmic congenital hypogonadotropic hypogonadism |
| 43393 | Lambert-Eaton myasthenic syndrome |
| 434179 | Orofaciodigital syndrome type 14 |
| 435329 | Familial ossifying fibroma |
| 435372 | Anterior urethral valve |
| 435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y |
| 435438 | Progressive myoclonic epilepsy type 7 |
| 435628 | Keppen-Lubinsky syndrome |
| 435638 | 3p25.3 microdeletion syndrome |
| 435651 | CIDEC-related familial partial lipodystrophy |
| 435660 | LIPE-related familial partial lipodystrophy |
| 435804 | Short stature-advanced bone age-early-onset osteoarthritis syndrome |
| 435819 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation |
| 435845 | Lethal neonatal spasticity-epileptic encephalopathy syndrome |
| 435930 | Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome |
| 435934 | COG2-CDG |
| 435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome |
| 435953 | Progeroid features-hepatocellular carcinoma predisposition syndrome |
| 435988 | Chronic atrial and intestinal dysrhythmia syndrome |
| 435998 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type D |
| 436 | Hypophosphatasia |
| 436003 | Contractures-developmental delay-Pierre Robin syndrome |
| 436141 | Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome |
| 436144 | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome |
| 436151 | Intellectual disability-expressive aphasia-facial dysmorphism syndrome |
| 436159 | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency |
| 436166 | Periodic fever-infantile enterocolitis-autoinflammatory syndrome |
| 436169 | Thrombomodulin-related bleeding disorder |
| 436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome |
| 436182 | Microcephalic primordial dwarfism-insulin resistance syndrome |
| 436242 | Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease |
| 436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome |
| 436252 | Combined immunodeficiency-enteropathy spectrum |
| 436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy |
| 436274 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa |
| 437552 | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity |
| 438075 | Ketoacidosis due to monocarboxylate transporter-1 deficiency |
| 438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy |
| 438117 | Steel syndrome |
| 438134 | PCNA-related progressive neurodegenerative photosensitivity syndrome |
| 438159 | STAT3-related early-onset multisystem autoimmune disease |
| 438178 | Fatty acyl-CoA reductase 1 deficiency |
| 438207 | Severe autosomal recessive macrothrombocytopenia |
| 438213 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| 438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation |
| 438266 | Progressive encephalomyelitis with rigidity and myoclonus |
| 438274 | GCGR-related hyperglucagonemia |
| 438279 | Human infection by orthopoxvirus |
| 439 | Isolated right ventricular hypoplasia |
| 439167 | Placental insufficiency |
| 439175 | Pediatric arterial ischemic stroke |
| 439196 | Zinc-responsive necrolytic acral erythema |
| 439202 | Non-recovering obstetric brachial plexus lesion |
| 439212 | Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome |
| 439218 | KCNQ2-related epileptic encephalopathy |
| 439224 | ALECT2 amyloidosis |
| 439232 | AApoAIV amyloidosis |
| 439254 | ITM2B amyloidosis |
| 439729 | Cutaneous polyarteritis nodosa |
| 439737 | Primary polyarteritis nodosa |
| 439746 | Secondary polyarteritis nodosa |
| 439755 | Single-organ polyarteritis nodosa |
| 439762 | Systemic polyarteritis nodosa |
| 439822 | PDE4D haploinsufficiency syndrome |
| 439854 | Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease |
| 439881 | Plastic bronchitis |
| 439897 | Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome |
| 44 | Neonatal adrenoleukodystrophy |
| 440221 | Congenital oculomotor nerve palsy |
| 440233 | Congenital abducens nerve palsy |
| 440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome |
| 440368 | Necrotizing soft tissue infection |
| 440392 | Interstitial lung disease due to SP-C deficiency |
| 440402 | Interstitial lung disease due to ABCA3 deficiency |
| 440427 | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| 440437 | Familial colorectal cancer Type X |
| 440706 | Ribose-5-P isomerase deficiency |
| 440713 | Isolated sedoheptulokinase deficiency |
| 440724 | Extensive peripapillary myelinated nerve fibers |
| 440727 | Combined hamartoma of the retina and retinal pigment epithelium |
| 440731 | L-ferritin deficiency |
| 440987 | Isolated agenesis of gallbladder |
| 441 | Pure autonomic failure |
| 441447 | Early-onset posterior subcapsular cataract |
| 441452 | Early-onset lamellar cataract |
| 442582 | AH amyloidosis |
| 442835 | Non-specific early-onset epileptic encephalopathy |
| 443057 | Sporadic porphyria cutanea tarda |
| 443062 | Familial porphyria cutanea tarda |
| 443070 | Hemicrania continua |
| 443073 | Charcot-Marie-Tooth disease type 2S |
| 443079 | Central serous chorioretinopathy |
| 443084 | Baroreflex failure |
| 443087 | 46,XY difference of sex development due to testicular 17,20-desmolase deficiency |
| 443098 | Hyperostosis cranialis interna |
| 443101 | Hypothalamic adipsic hypernatraemia syndrome |
| 443159 | Lymphoplasmacytic lymphoma without IgM production |
| 443162 | NDE1-related microhydranencephaly |
| 443167 | NUT midline carcinoma |
| 443173 | Postpartum psychosis |
| 443180 | Spontaneous intracranial hypotension |
| 443192 | Classic stiff person syndrome |
| 443197 | X-linked erythropoietic protoporphyria |
| 443227 | Paratyphoid fever |
| 443236 | Postural orthostatic tachycardia syndrome due to NET deficiency |
| 443291 | HIV-associated cancer |
| 443804 | Focal stiff limb syndrome |
| 443811 | PGM3-CDG |
| 443950 | DNAJB2-related Charcot-Marie-Tooth disease type 2 |
| 443988 | Ventriculomegaly-cystic kidney disease |
| 443995 | Mandibulofacial dysostosis with alopecia |
| 444 | Marie Unna hereditary hypotrichosis |
| 444002 | 11q22.2q22.3 microdeletion syndrome |
| 444013 | Combined oxidative phosphorylation defect type 23 |
| 444048 | 46,XX ovarian dysgenesis-short stature syndrome |
| 444051 | 20q11.2 microdeletion syndrome |
| 444069 | Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome |
| 444072 | Cerebellar-facial-dental syndrome |
| 444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome |
| 444092 | Autoimmune interstitial lung disease-arthritis syndrome |
| 444099 | Autosomal dominant spastic paraplegia type 73 |
| 444138 | Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome |
| 444316 | Idiopathic phalangeal acro-osteolysis |
| 444458 | Combined oxidative phosphorylation defect type 24 |
| 444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome |
| 444490 | Familial chylomicronemia syndrome |
| 445018 | Combined immunodeficiency due to LRBA deficiency |
| 445038 | 3-methylglutaconic aciduria type 7 |
| 445062 | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
| 445110 | Limb-girdle muscular dystrophy due to POMK deficiency |
| 446 | Neonatal hemochromatosis |
| 447 | Paroxysmal nocturnal hemoglobinuria |
| 447731 | NIK deficiency |
| 447737 | DOCK2 deficiency |
| 447740 | Susceptibility to localized juvenile periodontitis |
| 447753 | Autosomal dominant spastic paraplegia type 9A |
| 447757 | Autosomal dominant spastic paraplegia type 9B |
| 447760 | Autosomal recessive spastic paraplegia type 9B |
| 447764 | IgG4-related sclerosing cholangitis |
| 447774 | Secondary sclerosing cholangitis |
| 447777 | Keratocystic odontogenic tumor |
| 447784 | Mitochondrial pyruvate carrier deficiency |
| 447788 | Cerebral visual impairment |
| 447795 | Lipoyl transferase 2 deficiency |
| 447877 | Polymerase proofreading-related adenomatous polyposis |
| 447881 | Idiopathic dropped head syndrome |
| 447893 | Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome |
| 447896 | Tremor-ataxia-central hypomyelination syndrome |
| 447954 | Combined oxidative phosphorylation defect type 25 |
| 447961 | Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome |
| 447964 | Autosomal dominant Charcot-Marie-Tooth disease type 2V |
| 447974 | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome |
| 447977 | Progressive scapulohumeroperoneal distal myopathy |
| 447980 | 19p13.3 microduplication syndrome |
| 447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome |
| 448010 | CAD-CDG |
| 448237 | Zika virus disease |
| 448242 | Autosomal recessive brachyolmia |
| 448251 | Progressive autosomal recessive ataxia-deafness syndrome |
| 448264 | Isolated focal non-epidermolytic palmoplantar keratoderma |
| 448267 | Regressive spondylometaphyseal dysplasia |
| 448270 | Ectopia cordis |
| 44890 | Gastrointestinal stromal tumor |
| 449 | Hepatoblastoma |
| 449266 | Pleural empyema |
| 449280 | Scedosporiosis |
| 449285 | Snakebite envenomation |
| 449291 | Symptomatic form of fragile X syndrome in female carriers |
| 449395 | IgG4-related kidney disease |
| 449400 | IgG4-related aortitis |
| 449427 | IgG4-related pachymeningitis |
| 449432 | IgG4-related submandibular gland disease |
| 449563 | IgG4-related ophthalmic disease |
| 449566 | Eosinophilic angiocentric fibrosis |
| 45 | Adenosine monophosphate deaminase deficiency |
| 450322 | Polyclonal hyperviscosity syndrome |
| 451602 | Primary cutaneous plasmacytosis |
| 451607 | Cutaneous pseudolymphoma |
| 451612 | Familial congenital nasolacrimal duct obstruction |
| 452 | X-linked lissencephaly with abnormal genitalia |
| 453499 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome |
| 453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation |
| 453510 | Congenital insensitivity to pain with severe intellectual disability |
| 453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency |
| 453533 | Polyendocrine-polyneuropathy syndrome |
| 45358 | Congenital fibrosis of extraocular muscles |
| 454 | Acquired ichthyosis |
| 45448 | Miyoshi myopathy |
| 45452 | Idiopathic neonatal atrial flutter |
| 45453 | Incessant infant ventricular tachycardia |
| 454706 | Progressive muscular atrophy |
| 454710 | Anti-p200 pemphigoid |
| 454714 | Plasma cell leukemia |
| 454718 | Holmes-Adie syndrome |
| 454723 | Endometrioid carcinoma of ovary |
| 454742 | Variably protease-sensitive prionopathy |
| 454745 | Kuru |
| 454750 | Isolated tracheoesophageal fistula |
| 454821 | Pleomorphic salivary gland adenoma |
| 454831 | Acute radiation syndrome |
| 454836 | Avian influenza |
| 454840 | NTHL1-related attenuated familial adenomatous polyposis |
| 454887 | Corticobasal syndrome |
| 455 | Superficial epidermolytic ichthyosis |
| 456298 | 1p35.2 microdeletion syndrome |
| 456312 | Infantile multisystem neurologic-endocrine-pancreatic disease |
| 456318 | Hereditary sensory neuropathy-deafness-dementia syndrome |
| 456328 | X-linked myotubular myopathy-abnormal genitalia syndrome |
| 456333 | Hereditary neuroendocrine tumor of small intestine |
| 456369 | Polyglucosan body myopathy type 2 |
| 457 | Harlequin ichthyosis |
| 457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance |
| 457077 | TAFRO syndrome |
| 457083 | Isolated splenogonadal fusion |
| 457088 | Predisposition to invasive fungal disease due to CARD9 deficiency |
| 457095 | Actinomycosis |
| 457185 | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome |
| 457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| 457205 | Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome |
| 457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome |
| 457223 | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect |
| 457240 | X-linked intellectual disability-short stature-overweight syndrome |
| 457246 | Clear cell sarcoma of kidney |
| 457260 | X-linked intellectual disability-hypotonia-movement disorder syndrome |
| 457265 | Progressive myoclonic epilepsy type 9 |
| 457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome |
| 457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome |
| 457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
| 457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome |
| 457365 | Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome |
| 457375 | ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement |
| 457378 | Complex lethal osteochondrodysplasia |
| 457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome |
| 457406 | Multiple mitochondrial dysfunctions syndrome type 4 |
| 457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
| 458718 | Idiopathic spontaneous coronary artery dissection |
| 458758 | Composite hemangioendothelioma |
| 458763 | Retiform hemangioendothelioma |
| 458768 | Primary intralymphatic angioendothelioma |
| 458785 | Partially involuting congenital hemangioma |
| 458792 | Mixed cystic lymphatic malformation |
| 458798 | Spinocerebellar ataxia type 41 |
| 458803 | Spinocerebellar ataxia type 42 |
| 459033 | Ataxia-oculomotor apraxia type 4 |
| 459051 | Spondyloepiphyseal dysplasia, Stanescu type |
| 459056 | Autosomal recessive spastic paraplegia type 75 |
| 459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome |
| 459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome |
| 459074 | Corpus callosum agenesis-macrocephaly-hypertelorism syndrome |
| 46 | Adenylosuccinate lyase deficiency |
| 46059 | Lathosterolosis |
| 461 | Recessive X-linked ichthyosis |
| 46135 | Primary central nervous system lymphoma |
| 46348 | Paroxysmal extreme pain disorder |
| 464 | Incontinentia pigmenti |
| 464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome |
| 464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome |
| 464306 | DYRK1A-related intellectual disability syndrome |
| 464311 | Intellectual disability syndrome due to a DYRK1A point mutation |
| 464318 | Verrucous hemangioma |
| 464321 | Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome |
| 464329 | Kaposiform lymphangiomatosis |
| 464336 | BENTA disease |
| 464343 | Catastrophic antiphospholipid syndrome |
| 464359 | Benign metanephric tumor |
| 464366 | NEK9-related lethal skeletal dysplasia |
| 464370 | Neonatal alloimmune neutropenia |
| 464440 | Primary dystonia, DYT27 type |
| 464443 | COG6-CGD |
| 464453 | Acquired methemoglobinemia |
| 464458 | Paracetamol poisoning |
| 464724 | Fever-associated acute infantile liver failure syndrome |
| 464738 | Basel-Vanagaite-Smirin-Yosef syndrome |
| 464756 | Familial gastric type 1 neuroendocrine tumor |
| 464760 | Familial cavitary optic disc anomaly |
| 46486 | Mucous membrane pemphigoid |
| 46487 | Epidermolysis bullosa acquisita |
| 46488 | Linear IgA dermatosis |
| 465 | Congenital plasminogen activator inhibitor type 1 deficiency |
| 46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome |
| 465508 | Symptomatic form of HFE-related hemochromatosis |
| 465824 | Fetal encasement syndrome |
| 466 | Fatal familial insomnia |
| 466026 | Class I glucose-6-phosphate dehydrogenase deficiency |
| 46627 | Char syndrome |
| 466650 | Exercise-induced malignant hyperthermia |
| 466670 | Cyanide poisoning |
| 466677 | Scorpion envenomation |
| 466682 | Euthyroid Graves orbitopathy |
| 466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome |
| 466695 | Supratip dysplasia |
| 466703 | TMEM199-CDG |
| 466718 | Martinique crinkled retinal pigment epitheliopathy |
| 466722 | Autosomal recessive spastic paraplegia type 77 |
| 466729 | Familial patent arterial duct |
| 466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z |
| 466775 | Autosomal recessive Charcot-Marie-Tooth disease type 2X |
| 466784 | Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect |
| 466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome |
| 466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| 466806 | Autosomal dominant thrombocytopenia with platelet secretion defect |
| 466921 | Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome |
| 466926 | Seizures-scoliosis-macrocephaly syndrome |
| 466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy |
| 466943 | WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome |
| 466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation |
| 466962 | SMARCA4-deficient sarcoma of thorax |
| 467166 | Tubulinopathy-associated dysgyria |
| 467176 | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome |
| 46724 | Cerebral arteriovenous malformation |
| 468620 | Intellectual disability-epilepsy-extrapyramidal syndrome |
| 468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency |
| 468635 | Cryptogenic multifocal ulcerous stenosing enteritis |
| 468641 | Chronic enteropathy associated with SLCO2A1 gene |
| 468661 | Autosomal recessive spastic paraplegia type 74 |
| 468666 | Isolated generalized anhidrosis with normal sweat glands |
| 468672 | Colobomatous macrophthalmia-microcornea syndrome |
| 468678 | White-Sutton syndrome |
| 468684 | CCDC115-CDG |
| 468699 | SLC39A8-CDG |
| 468717 | Rhizomelic chondrodysplasia punctata type 5 |
| 468726 | Severe primary trimethylaminuria |
| 469 | Hereditary fructose intolerance |
| 47 | X-linked agammaglobulinemia |
| 470 | Lysinuric protein intolerance |
| 47044 | Hereditary papillary renal cell carcinoma |
| 47045 | Familial cold urticaria |
| 47159 | Proximal renal tubular acidosis |
| 472 | Isosporiasis |
| 474 | Jeune syndrome |
| 475 | Joubert syndrome |
| 476084 | BVES-related limb-girdle muscular dystrophy |
| 476093 | Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome |
| 476096 | Erythrokeratodermia-cardiomyopathy syndrome |
| 476102 | Hereditary pediatric Behçet-like disease |
| 476113 | Combined immunodeficiency due to TFRC deficiency |
| 476119 | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome |
| 47612 | Felty syndrome |
| 476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| 476394 | PMP2-related Charcot-Marie-Tooth disease type 1 |
| 476406 | Congenital generalized hypercontractile muscle stiffness syndrome |
| 477 | KID syndrome |
| 477650 | Fibroblastic rheumatism |
| 477661 | IL21-related infantile inflammatory bowel disease |
| 477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome |
| 477684 | Combined oxidative phosphorylation defect type 26 |
| 477738 | Pediatric multiple sclerosis |
| 477742 | Nodular fasciitis |
| 477749 | Pontine autosomal dominant microangiopathy with leukoencephalopathy |
| 477774 | Combined oxidative phosphorylation defect type 27 |
| 477781 | Primary condylar hyperplasia |
| 477787 | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder |
| 477814 | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
| 477817 | PMP22-RAI1 contiguous gene duplication syndrome |
| 477831 | Kosaki overgrowth syndrome |
| 477857 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency |
| 477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome |
| 478 | Kallmann syndrome |
| 478029 | Combined oxidative phosphorylation defect type 29 |
| 478042 | Combined oxidative phosphorylation defect type 30 |
| 478049 | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome |
| 478664 | Hereditary sensory and autonomic neuropathy type 8 |
| 48 | Congenital bilateral absence of vas deferens |
| 480 | Kearns-Sayre syndrome |
| 480476 | Progressive familial intrahepatic cholestasis type 5 |
| 480483 | Progressive familial intrahepatic cholestasis type 4 |
| 480491 | MYO5B-related progressive familial intrahepatic cholestasis |
| 480501 | Choledochal cyst |
| 480506 | Primary intrahepatic lithiasis |
| 480512 | Idiopathic ductopenia |
| 480520 | Caroli syndrome |
| 480524 | Idiopathic peliosis hepatis |
| 480528 | Lethal hydranencephaly-diaphragmatic hernia syndrome |
| 480531 | Congenital portosystemic shunt |
| 480536 | MSH3-related attenuated familial adenomatous polyposis |
| 480541 | High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement |
| 480553 | Aneurysmal bone cyst |
| 480556 | Isolated neonatal sclerosing cholangitis |
| 480682 | POGLUT1-related limb-girdle muscular dystrophy R21 |
| 480701 | Facial diplegia with paresthesias |
| 480851 | Hereditary thrombocytopenia with early-onset myelofibrosis |
| 480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome |
| 480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability |
| 480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome |
| 480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome |
| 481 | Kennedy disease |
| 48104 | Pyoderma gangrenosum |
| 481152 | PYCR2-related microcephaly-progressive leukoencephalopathy |
| 48162 | Lewis-Sumner syndrome |
| 481662 | Familial Chilblain lupus |
| 481665 | USP18 deficiency |
| 481986 | Familial schizencephaly |
| 482 | Kimura disease |
| 482077 | HTRA1-related autosomal dominant cerebral small vessel disease |
| 482601 | Adenylosuccinate synthetase-like 1-related distal myopathy |
| 482606 | X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome |
| 483 | Congenital high-molecular-weight kininogen deficiency |
| 48372 | Nodular regenerative hyperplasia of the liver |
| 48377 | Subcorneal pustular dermatosis |
| 48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome |
| 48435 | Postinfectious vasculitis |
| 485 | Kniest dysplasia |
| 485275 | Acquired schizencephaly |
| 485350 | CLCN4-related X-linked intellectual disability syndrome |
| 485358 | Propylthiouracil embryofetopathy |
| 485405 | 16p12.1p12.3 triplication syndrome |
| 485418 | EMILIN-1-related connective tissue disease |
| 485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect |
| 485426 | Isolated congenital hepatic fibrosis |
| 486 | Autosomal dominant severe congenital neutropenia |
| 48652 | Monosomy 22q13.3 |
| 486811 | Prenatal-onset spinal muscular atrophy with congenital bone fractures |
| 486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome |
| 48686 | Primary effusion lymphoma |
| 487 | Krabbe disease |
| 48736 | Embryonal carcinoma of the central nervous system |
| 487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome |
| 487809 | Pediatric collagenous gastritis |
| 487814 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation |
| 487825 | Pierpont syndrome |
| 488 | Urachal cyst |
| 488168 | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome |
| 48818 | Aceruloplasminemia |
| 488191 | Female infertility due to oocyte meiotic arrest |
| 488197 | Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome |
| 488232 | Split-foot malformation-mesoaxial polydactyly syndrome |
| 488239 | Acute macular neuroretinopathy |
| 488265 | Osteofibrous dysplasia |
| 488280 | 14q32 duplication syndrome |
| 488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W |
| 488434 | Camptodactyly syndrome, Guadalajara type 3 |
| 488437 | SIX2-related frontonasal dysplasia |
| 488586 | Congenital amyoplasia |
| 488594 | Autosomal recessive spastic paraplegia type 76 |
| 488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome |
| 488618 | Transketolase deficiency |
| 488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome |
| 488632 | TBCK-related intellectual disability syndrome |
| 488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome |
| 488642 | TELO2-related intellectual disability-neurodevelopmental disorder |
| 488647 | DDX41-related hematologic malignancy predisposition syndrome |
| 488650 | Distal myopathy, Tateyama type |
| 48918 | Focal myositis |
| 49 | Penile agenesis |
| 490 | Omphalomesenteric cyst |
| 49041 | IgG4-related retroperitoneal fibrosis |
| 49042 | Dentinogenesis imperfecta |
| 492 | Proliferating trichilemmal cyst |
| 493 | Familial keratoacanthoma |
| 493342 | Vibratory urticaria |
| 49382 | Achromatopsia |
| 494 | Keratoderma hereditarium mutilans |
| 494344 | RERE-related neurodevelopmental syndrome |
| 494418 | Vulvar carcinoma |
| 494421 | Sacrococcygeal teratoma |
| 494424 | Extracranial carotid artery aneurysm |
| 494428 | Idiopathic pleuroparenchymal fibroelastosis |
| 494433 | MIRAGE syndrome |
| 494439 | Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome |
| 494444 | DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome |
| 494448 | Vulvar squamous cell carcinoma |
| 494451 | Vulvar basal cell carcinoma |
| 494454 | Vulvar adenocarcinoma |
| 494526 | Infantile-onset generalized dyskinesia with orofacial involvement |
| 494541 | Childhood-onset benign chorea with striatal involvement |
| 494547 | Squamous cell carcinoma of the hypopharynx |
| 494550 | Squamous cell carcinoma of the larynx |
| 495 | Transgrediens et progrediens palmoplantar keratoderma |
| 495274 | Charcot-Marie-Tooth disease type 2T |
| 49566 | Acquired purpura fulminans |
| 495818 | 9q33.3q34.11 microdeletion syndrome |
| 495844 | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy |
| 495875 | Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome |
| 495879 | Congenital agenesis of the scrotum |
| 495930 | Familial monosomy 7 syndrome |
| 496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome |
| 496686 | Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome |
| 496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome |
| 496693 | Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome |
| 496751 | EVEN-plus syndrome |
| 496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome |
| 496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome |
| 497188 | Diffuse intrinsic pontine glioma |
| 497737 | Epidermolytic nevus |
| 497757 | MME-related autosomal dominant Charcot Marie Tooth disease type 2 |
| 497764 | Spinocerebellar ataxia type 43 |
| 497906 | Childhood-onset basal ganglia degeneration syndrome |
| 49804 | Lichen amyloidosis |
| 498228 | Phyllodes tumor of the prostate |
| 498251 | Menstrual cycle-dependent periodic fever |
| 49827 | Thiamine-responsive megaloblastic anemia syndrome |
| 498359 | Aquagenic palmoplantar keratoderma |
| 498474 | Hyaline fibromatosis syndrome |
| 498481 | LRP5-related primary osteoporosis |
| 498485 | Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome |
| 498488 | Overgrowth syndrome with 2q37 translocation |
| 498494 | Mirror-image polydactyly |
| 498497 | Short rib-polydactyly syndrome type 5 |
| 498602 | Sugarman brachydactyly |
| 498693 | MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome |
| 499 | Kerion celsi |
| 499009 | Congenital syphilis |
| 499085 | Chronic relapsing inflammatory optic neuropathy |
| 499096 | Isolated optic neuritis |
| 499103 | Recurrent idiopathic neuroretinitis |
| 499107 | Idiopathic optic perineuritis |
| 499182 | Pilomatrix carcinoma |
| 5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| 50 | Aicardi syndrome |
| 500 | Noonan syndrome with multiple lentigines |
| 500055 | Hao-Fountain syndrome due to 16p13.2 microdeletion |
| 500062 | Infantile-onset periodic fever-panniculitis-dermatosis syndrome |
| 500095 | Tall stature-intellectual disability-renal anomalies syndrome |
| 500135 | Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome |
| 500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome |
| 500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome |
| 500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom |
| 500163 | Witteveen-Kolk syndrome |
| 500166 | SIN3A-related intellectual disability syndrome due to a point mutation |
| 500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder |
| 500188 | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome |
| 500464 | Squamous cell carcinoma of the nasal cavity and paranasal sinuses |
| 500478 | Squamous cell carcinoma of the oropharynx |
| 500481 | Squamous cell carcinoma of salivary glands |
| 500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome |
| 500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract |
| 500548 | Osteosclerotic metaphyseal dysplasia |
| 501 | Lafora disease |
| 502 | Trichorhinophalangeal syndrome type 2 |
| 502305 | Cochleovestibular malformation |
| 502318 | Cochlear nerve deficiency |
| 502363 | Squamous cell carcinoma of the oral cavity |
| 502366 | Squamous cell carcinoma of the lip |
| 502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome |
| 502430 | Metopic ridging-ptosis-facial dysmorphism syndrome |
| 502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome |
| 502437 | 4q25 proximal deletion syndrome |
| 502444 | Alkaline ceramidase 3 deficiency |
| 502499 | Erythema multiforme major |
| 50251 | Pleural mesothelioma |
| 503 | Larsen syndrome |
| 504 | Creeping myiasis |
| 504476 | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome |
| 504523 | Severe combined immunodeficiency due to LAT deficiency |
| 504530 | Combined immunodeficiency due to Moesin deficiency |
| 505 | Graham Little-Piccardi-Lassueur syndrome |
| 505208 | 3-methylglutaconic aciduria type 8 |
| 505216 | 3-methylglutaconic aciduria type 9 |
| 505227 | Combined immunodeficiency due to GINS1 deficiency |
| 505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome |
| 505242 | Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome |
| 505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders |
| 505395 | Ventilator-induced diaphragmatic dysfunction |
| 505652 | CDKL5-deficiency disorder |
| 506 | Leigh syndrome |
| 506075 | Non-functioning neuroendocrine tumor of pancreas |
| 506090 | Serotonin-producing neuroendocrine tumor of pancreas |
| 506098 | Neuroendocrine carcinoma of pancreas |
| 506112 | Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas |
| 506136 | Neuroendocrine neoplasm of esophagus |
| 506307 | Stromme syndrome |
| 506334 | Familial steroid-resistant nephrotic syndrome with adrenal insufficiency |
| 506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction |
| 506358 | Gabriele-de Vries syndrome |
| 506784 | Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome |
| 507 | Leishmaniasis |
| 508 | Leprechaunism |
| 50809 | Talo-patello-scaphoid osteolysis |
| 508093 | MEPAN syndrome |
| 50810 | Microlissencephaly-micromelia syndrome |
| 50811 | Lipodystrophy-intellectual disability-deafness syndrome |
| 50812 | Zellweger-like syndrome without peroxisomal anomalies |
| 50814 | Craniolenticulosutural dysplasia |
| 50815 | Branchiogenic deafness syndrome |
| 50817 | Duane anomaly-myopathy-scoliosis syndrome |
| 50839 | Cat-scratch disease |
| 508410 | Familial intestinal malrotation |
| 508476 | Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome |
| 508488 | 8q24.3 microdeletion syndrome |
| 508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome |
| 508501 | Oral-facial-digital syndrome with short stature and brachymesophalangy |
| 508512 | Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome |
| 508523 | Hyperphenylalaninemia due to DNAJC12 deficiency |
| 508529 | Intermediate epidermolysis bullosa simplex with cardiomyopathy |
| 508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome |
| 508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome |
| 509 | Leptospirosis |
| 50918 | Kikuchi-Fujimoto disease |
| 50942 | Striate palmoplantar keratoderma |
| 50943 | Keratolytic winter erythema |
| 50944 | Schöpf-Schulz-Passarge syndrome |
| 50945 | Blomstrand lethal chondrodysplasia |
| 51 | Aicardi-Goutières syndrome |
| 510 | Lesch-Nyhan syndrome |
| 51083 | Familial short QT syndrome |
| 51084 | Torsade-de-pointes syndrome with short coupling interval |
| 511 | Maple syrup urine disease |
| 51188 | Ethylmalonic encephalopathy |
| 512 | Metachromatic leukodystrophy |
| 512017 | Chronic lymphoproliferative disorder of natural killer cells |
| 51208 | Formiminoglutamic aciduria |
| 512103 | Autosomal recessive epidermolytic ichthyosis |
| 512260 | Congenital cerebellar ataxia due to RNU12 mutation |
| 513436 | Autosomal recessive spastic paraplegia type 78 |
| 513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome |
| 514 | Acute monoblastic/monocytic leukemia |
| 514352 | Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome |
| 51608 | Generalized arterial calcification of infancy |
| 51636 | WHIM syndrome |
| 517 | Acute myelomonocytic leukemia |
| 518 | Acute megakaryoblastic leukemia |
| 51890 | Anterior cutaneous nerve entrapment syndrome |
| 519384 | Congenital cystic eye |
| 519386 | Isolated congenital entropion |
| 519388 | Autosomal recessive anterior segment dysgenesis |
| 519390 | Isolated blepharochalasis |
| 519392 | Isolated iridoschisis |
| 519396 | Isolated microspherophakia |
| 519398 | Isolated foveal hypoplasia |
| 519400 | Peripapillary staphyloma |
| 519402 | Isolated megalopapilla |
| 519404 | Optic disc pit |
| 519406 | Thygeson superficial punctate keratitis |
| 519408 | Mooren ulcer |
| 519410 | Terrien marginal degeneration |
| 519930 | Fungal keratitis |
| 52 | Alagille syndrome |
| 520 | Acute promyelocytic leukemia |
| 52022 | Potocki-Shaffer syndrome |
| 52047 | Braddock syndrome |
| 52054 | Craniosynostosis-intracranial calcifications syndrome |
| 52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome |
| 52056 | Ulnar/fibula ray defect-brachydactyly syndrome |
| 521 | Chronic myeloid leukemia |
| 521123 | Radiation-induced plexopathy |
| 521127 | Osteoradionecrosis of the mandible |
| 521219 | Mirizzi syndrome |
| 521258 | Xq25 microduplication syndrome |
| 521305 | Proximal myopathy with focal depletion of mitochondria |
| 521308 | Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome |
| 521390 | Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome |
| 521406 | Dystonia-parkinsonism-hypermanganesemia syndrome |
| 521411 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect |
| 521414 | Autosomal dominant Charcot-Marie-Tooth disease type 2DD |
| 521426 | PLAA-associated neurodevelopmental disorder |
| 521432 | Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome |
| 521438 | Congenital vertebral-cardiac-renal anomalies syndrome |
| 521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome |
| 521450 | LAMA5-related multisystemic syndrome |
| 522037 | Primary autoimmune enteropathy |
| 522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |
| 523 | Hereditary leiomyomatosis and renal cell cancer |
| 52368 | Mohr-Tranebjaerg syndrome |
| 524 | Li-Fraumeni syndrome |
| 52416 | Mantle cell lymphoma |
| 52417 | MALT lymphoma |
| 52427 | Retinitis punctata albescens |
| 52429 | Branchiootic syndrome |
| 52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
| 525 | Lichen planopilaris |
| 52503 | X-linked creatine transporter deficiency |
| 52530 | Pseudo-von Willebrand disease |
| 525731 | Pediatric-onset Graves disease |
| 525738 | Prepubertal anorexia nervosa |
| 526 | Liddle syndrome |
| 527276 | Encephalopathy due to mitochondrial and peroxisomal fission defect |
| 527450 | Severe myopia-generalized joint laxity-short stature syndrome |
| 527468 | Diaphragmatic hernia-short bowel-asplenia syndrome |
| 527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy |
| 528 | Congenital generalized lipodystrophy |
| 528084 | Non-specific syndromic intellectual disability |
| 528091 | Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome |
| 528105 | Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome |
| 528623 | Hereditary angioedema with C1Inh deficiency |
| 528647 | Hereditary angioedema with normal C1Inh |
| 528663 | Acquired angioedema with C1Inh deficiency |
| 529 | Roch-Leri mesosomatous lipomatosis |
| 52901 | Isolated follicle stimulating hormone deficiency |
| 529468 | Monoclonal mast cell activation syndrome |
| 529574 | Duane retraction syndrome with congenital deafness |
| 529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome |
| 529799 | Acute bilirubin encephalopathy |
| 529808 | Chronic bilirubin encephalopathy |
| 529831 | Letrozole toxicity |
| 529852 | Combined hepatocellular carcinoma and cholangiocarcinoma |
| 529864 | Secondary erythromelalgia |
| 52994 | Orbital leiomyoma |
| 529962 | 17q24.2 microdeletion syndrome |
| 529965 | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome |
| 529970 | Male infertility due to acephalic spermatozoa |
| 529977 | Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome |
| 529980 | Inflammatory bowel disease-recurrent sinopulmonary infections syndrome |
| 53 | Albers-Schönberg osteopetrosis |
| 530 | Lipoid proteinosis |
| 530033 | Dermoid or epidermoid cyst of the central nervous system |
| 530298 | Progressive myoclonic epilepsy with neuroserpin inclusion bodies |
| 530303 | Progressive dementia with neuroserpin inclusion bodies |
| 53035 | Caroli disease |
| 530792 | RELA fusion-positive ependymoma |
| 530838 | KRT1-related diffuse nonepidermolytic keratoderma |
| 530849 | Familial apolipoprotein A5 deficiency |
| 530983 | Lamb-Shaffer syndrome |
| 530995 | Mixed phenotype acute leukemia |
| 531 | Miller-Dieker syndrome |
| 531151 | 9q21.13 microdeletion syndrome |
| 53271 | Muenke syndrome |
| 53296 | Familial cutaneous collagenoma |
| 533 | Listeriosis |
| 53347 | Brody myopathy |
| 53351 | X-linked dystonia-parkinsonism |
| 53372 | Hereditary geniospasm |
| 534 | Oculocerebrorenal syndrome of Lowe |
| 53540 | Goldmann-Favre syndrome |
| 535453 | Familial lipase maturation factor 1 deficiency |
| 535458 | Familial GPIHBP1 deficiency |
| 53583 | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity |
| 536 | Systemic lupus erythematosus |
| 536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome |
| 536471 | Spondylodysplastic Ehlers-Danlos syndrome |
| 536516 | Myopathic Ehlers-Danlos syndrome |
| 536532 | Classical-like Ehlers-Danlos syndrome type 2 |
| 536545 | Kyphoscoliotic Ehlers-Danlos syndrome |
| 53689 | Congenital chloride diarrhea |
| 53690 | Congenital lactase deficiency |
| 53691 | Congenital cornea plana |
| 53693 | GRACILE syndrome |
| 53696 | Arthrogryposis-anterior horn cell disease syndrome |
| 53697 | Gnathodiaphyseal dysplasia |
| 53698 | Myosin storage myopathy |
| 537 | Toxic epidermal necrolysis |
| 537072 | PLG-related hereditary angioedema with normal C1Inh |
| 53715 | Familial tumoral calcinosis |
| 53719 | Wyburn-Mason syndrome |
| 53721 | Spinal arteriovenous metameric syndrome |
| 538 | Lymphangioleiomyomatosis |
| 538096 | Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy |
| 538101 | Congenital axonal neuropathy with encephalopathy |
| 538574 | Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome |
| 538756 | Familial multiple discoid fibromas |
| 538863 | Classic pyoderma gangrenosum |
| 538866 | Pustular pyoderma gangrenosum |
| 538869 | Bullous pyoderma gangrenosum |
| 538872 | Vegetative pyoderma gangrenosum |
| 538931 | X-linked lymphoproliferative disease due to SH2D1A deficiency |
| 538934 | X-linked lymphoproliferative disease due to XIAP deficiency |
| 538958 | Combined immunodeficiency due to CD70 deficiency |
| 538963 | Combined immunodeficiency due to ITK deficiency |
| 54 | X-linked recessive ocular albinism |
| 540 | Familial hemophagocytic lymphohistiocytosis |
| 54028 | Plummer-Vinson syndrome |
| 54057 | Thrombotic thrombocytopenic purpura |
| 541423 | Growth delay-intellectual disability-hepatopathy syndrome |
| 541443 | Anomalous aortic origin of the left coronary artery |
| 541454 | Anomalous aortic origin of the right coronary artery |
| 541507 | Anomalous origin of coronary artery from the pulmonary artery |
| 542301 | Combined immunodeficiency due to CARMIL2 deficiency |
| 542306 | GNB5-related intellectual disability-cardiac arrhythmia syndrome |
| 542310 | Leukoencephalopathy with calcifications and cysts |
| 542323 | CAR T cell therapy-associated cytokine release syndrome |
| 54247 | Posterior cortical atrophy |
| 54251 | Corticosteroid-sensitive aseptic abscess syndrome |
| 542568 | Quadricuspid aortic valve |
| 542585 | Auditory neuropathy-optic atrophy syndrome |
| 542592 | Necrobiosis lipoidica |
| 54260 | Left ventricular noncompaction |
| 542643 | Livedoid vasculopathy |
| 542657 | Isolated hyperchlorhidrosis |
| 54272 | Hepatocellular adenoma |
| 543 | Burkitt lymphoma |
| 543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome |
| 54368 | Sarcocystosis |
| 54370 | Primary membranoproliferative glomerulonephritis |
| 544254 | SYNGAP1-related developmental and epileptic encephalopathy |
| 544469 | PRUNE1-related neurological syndrome |
| 544472 | Atypical hemolytic uremic syndrome with complement gene abnormality |
| 544482 | Infection-related hemolytic uremic syndrome |
| 544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome |
| 544493 | Streptococcus pneumoniae-associated hemolytic uremic syndrome |
| 544503 | RNF13-related severe early-onset epileptic encephalopathy |
| 544578 | Congenital primary megaureter, refluxing and obstructed form |
| 544602 | Congenital myopathy with reduced type 2 muscle fibers |
| 544628 | Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome |
| 545 | Follicular lymphoma |
| 54595 | Craniopharyngioma |
| 548 | Leprosy |
| 549 | Legionnaires disease |
| 550 | MELAS |
| 551 | MERRF |
| 552 | MODY |
| 555402 | NAD(P)HX dehydratase deficiency |
| 555407 | NAD(P)HX epimerase deficiency |
| 555434 | Fibrohistiocytic inflammatory pseudotumor of the liver |
| 555437 | Lymphoplasmacytic inflammatory pseudotumor of the liver |
| 555874 | Congenital tricuspid valve dysplasia |
| 555877 | FLNA-related X-linked myxomatous valvular dysplasia |
| 555905 | IgA pemphigus |
| 55595 | TNP03-related limb-girdle muscular dystrophy D2 |
| 55596 | HNRNPDL-related limb-girdle muscular dystrophy D3 |
| 556 | Malakoplakia |
| 556030 | Early-onset familial hypoaldosteronism |
| 556037 | Late-onset familial hypoaldosteronism |
| 55654 | Hypotrichosis simplex |
| 55655 | Pneumococcal meningitis |
| 556955 | Pancreatic agenesis-holoprosencephaly syndrome |
| 556985 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia |
| 557003 | Oculoskeletodental syndrome |
| 557056 | Spastic ataxia-dysarthria due to glutaminase deficiency |
| 557064 | Neonatal epileptic encephalopathy due to glutaminase deficiency |
| 558 | Marfan syndrome |
| 558411 | Idiopathic gastroparesis |
| 55880 | Chondrosarcoma |
| 55881 | Adamantinoma |
| 559 | Marinesco-Sjögren syndrome |
| 56 | Alkaptonuria |
| 560 | Marshall syndrome |
| 561 | Marshall-Smith syndrome |
| 561854 | FOXG1 syndrome |
| 562 | McCune-Albright syndrome |
| 562509 | Heme oxygenase-1 deficiency |
| 562528 | Congenital limbs-face contractures-hypotonia-developmental delay syndrome |
| 562538 | Autosomal recessive extra-oral halitosis |
| 562559 | Anterior maxillary protrusion-strabismus-intellectual disability syndrome |
| 562569 | TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome |
| 562639 | Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome |
| 563 | Peripartum cardiomyopathy |
| 56304 | Atelosteogenesis type II |
| 56305 | Atelosteogenesis type III |
| 563576 | Autoimmune hepatitis type 1 |
| 563581 | Autoimmune hepatitis type 2 |
| 563589 | Seronegative autoimmune hepatitis |
| 563609 | Isolated anencephaly |
| 563612 | Isolated exencephaly |
| 563666 | Serous cystadenoma of childhood |
| 563671 | Mucinous cystadenoma of childhood |
| 563676 | Seromucinous cystadenoma of childhood |
| 563684 | Furuncular myiasis due to Dermatobia hominis |
| 563687 | Furuncular myiasis due to Cordylobia anthropophaga |
| 563690 | Furuncular myiasis due to Cordylobia rodhaini |
| 563708 | Syndromic congenital sodium diarrhea |
| 563951 | Isolated congenital aglossia |
| 563954 | Isolated congenital hypoglossia |
| 563991 | Osteochondrosis of the tarsal bone |
| 564 | Meckel syndrome |
| 564003 | Osteochondrosis of the metatarsal bone |
| 564178 | Primary hypomagnesemia-refractory seizures-intellectual disability syndrome |
| 56425 | Cold agglutinin disease |
| 565 | Menkes disease |
| 565612 | Primary triglyceride deposit cardiomyovasculopathy |
| 565624 | Combined oxidative phosphorylation defect type 39 |
| 565641 | Primary desmosis coli |
| 565782 | Methotrexate toxicity |
| 565788 | Infantile inflammatory bowel disease with neurological involvement |
| 565837 | Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 |
| 565858 | Craniosynostosis-microretrognathia-severe intellectual disability syndrome |
| 565899 | POMGNT2-related limb-girdle muscular dystrophy R24 |
| 565909 | Calpain-3-related limb-girdle muscular dystrophy D4 |
| 566 | Congenital microcoria |
| 566067 | CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome |
| 566175 | Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome |
| 566192 | Congenital autosomal recessive small-platelet thrombocytopenia |
| 566231 | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha |
| 566243 | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |
| 566393 | Acute mast cell leukemia |
| 566396 | Chronic mast cell leukemia |
| 566841 | Liver adenomatosis |
| 566847 | Aprosencephaly/atelencephaly spectrum |
| 566852 | Atelencephaly |
| 566857 | Aprosencephaly |
| 566862 | Left sided atrial isomerism |
| 566943 | Mueller-Weiss syndrome |
| 567 | 22q11.2 deletion syndrome |
| 567502 | B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome |
| 567544 | Idiopathic non-lupus full-house nephropathy |
| 567546 | Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance |
| 567548 | Idiopathic steroid-resistant nephrotic syndrome |
| 567550 | Idiopathic multidrug-resistant nephrotic syndrome |
| 567552 | Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy |
| 567983 | Parenteral nutrition-associated cholestasis |
| 568 | Microphthalmia, Lenz type |
| 568051 | GJC2-related late-onset primary lymphedema |
| 568056 | Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome |
| 568062 | PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis |
| 568065 | EPHB4-related lymphatic-related hydrops fetalis |
| 569 | Familial or sporadic hemiplegic migraine |
| 569164 | Angiomatoid fibrous histiocytoma |
| 569248 | Microcystic stromal tumor |
| 569274 | Multiple mitochondrial dysfunctions syndrome type 5 |
| 569290 | Multiple mitochondrial dysfunctions syndrome type 6 |
| 569816 | CELSR1-related late-onset primary lymphedema |
| 569821 | Congenital primary lymphedema of Gordon |
| 57 | Glycogen storage disease due to aldolase A deficiency |
| 570 | Moebius syndrome |
| 570371 | Bartter syndrome type 5 |
| 570422 | Galactose mutarotase deficiency |
| 570431 | Idiopathic multicentric Castleman disease |
| 570438 | HHV-8-associated multicentric Castleman disease |
| 570470 | Ricin poisoning |
| 570491 | QRSL1-related combined oxidative phosphorylation defect |
| 570762 | Infective endocarditis |
| 57145 | SUNCT syndrome |
| 57196 | Medial condensing osteitis of the clavicle |
| 572 | Immunodeficiency by defective expression of MHC class II |
| 572013 | Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome |
| 572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus |
| 572354 | Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 |
| 572361 | Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 |
| 572385 | Brachydactyly type B1 |
| 572428 | Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia |
| 572543 | RFVT2-related riboflavin transporter deficiency |
| 572550 | RFVT3-related riboflavin transporter deficiency |
| 572761 | DONSON-related microcephaly-short stature-limb abnormalities spectrum |
| 572768 | Microcephaly-micromelia syndrome |
| 572773 | Microcephaly-short stature-limb abnormalities syndrome |
| 572798 | WARS2-related combined oxidative phosphorylation defect |
| 573 | Monilethrix |
| 573253 | Split cord malformation type II |
| 574 | 21q deletion syndrome |
| 574918 | Predisposition to severe viral infection due to IRF7 deficiency |
| 574957 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency |
| 575 | Muckle-Wells syndrome |
| 575553 | Cathepsin A-related arteriopathy-strokes-leukoencephalopathy |
| 576 | Mucolipidosis type II |
| 576074 | Middle East respiratory syndrome |
| 576227 | Complete atrioventricular septal defect without ventricular hypoplasia |
| 576232 | Partial atrioventricular septal defect with ventricular hypoplasia |
| 576235 | Partial atrioventricular septal defect without ventricular hypoplasia |
| 576242 | Intermediate atrioventricular septal defect |
| 576278 | SATB2-associated syndrome |
| 576283 | SATB2-associated syndrome due to a pathogenic variant |
| 576349 | NLRC4-related familial cold autoinflammatory syndrome |
| 576370 | Variant Creutzfeldt-Jakob disease |
| 576379 | Iatrogenic Creutzfeldt-Jakob disease |
| 577 | Mucolipidosis type III |
| 57777 | Cirrhotic cardiomyopathy |
| 57782 | Mazabraud syndrome |
| 578 | Mucolipidosis type IV |
| 579 | Mucopolysaccharidosis type 1 |
| 58 | Alexander disease |
| 580 | Mucopolysaccharidosis type 2 |
| 58017 | Classic hairy cell leukemia |
| 58040 | Osteoblastoma |
| 580572 | Intraductal tubulopapillary neoplasm of pancreas |
| 580933 | Lethal brain and heart developmental defects |
| 580940 | QRICH1-related intellectual disability-chondrodysplasia syndrome |
| 580951 | Punctate inner choroidopathy |
| 581 | Mucopolysaccharidosis type 3 |
| 581271 | Cramp-fasciculation syndrome |
| 582 | Mucopolysaccharidosis type 4 |
| 583 | Mucopolysaccharidosis type 6 |
| 583097 | Congenital infiltrating lipomatosis of the face |
| 583595 | Serine biosynthesis pathway deficiency, infantile/juvenile form |
| 583602 | Neu-laxova syndrome due to phosphoserine aminotransferase deficiency |
| 583607 | Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency |
| 583612 | Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency |
| 583856 | Isolated splenic vein thrombosis |
| 583861 | Isolated mesenteric vein thrombosis |
| 584 | Mucopolysaccharidosis type 7 |
| 585 | Multiple sulfatase deficiency |
| 585867 | Acute myeloid leukemia with t(9;22)(q34.1;q11.2) |
| 585877 | B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality |
| 585909 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) |
| 585918 | B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) |
| 585929 | B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) |
| 585936 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy |
| 585942 | B-lymphoblastic leukemia/lymphoma with hypodiploidy |
| 585948 | B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) |
| 585956 | B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) |
| 586 | Cystic fibrosis |
| 586130 | Sporadic fatal insomnia |
| 587 | Muir-Torre syndrome |
| 588 | Muscle-eye-brain disease |
| 589 | Myasthenia gravis |
| 589435 | Spondylometaphyseal dysplasia-corneal dystrophy syndrome |
| 589442 | Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome |
| 589515 | PUM1-associated developmental disability-ataxia-seizure syndrome |
| 589522 | Spinocerebellar ataxia type 46 |
| 589527 | Spinocerebellar ataxia type 45 |
| 589534 | Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) |
| 589542 | Myeloid/lymphoid neoplasm associated with JAK2 rearrangement |
| 589547 | GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder |
| 589595 | Mixed phenotype acute leukemia with t(v;11q23.3) |
| 589608 | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies |
| 589618 | Dystonia 28 |
| 589821 | Congenital-onset Steinert myotonic dystrophy |
| 589824 | Childhood-onset Steinert myotonic dystrophy |
| 589827 | Juvenile-onset Steinert myotonic dystrophy |
| 589830 | Adult-onset Steinert myotonic dystrophy |
| 589833 | Late-onset Steinert myotonic dystrophy |
| 589856 | Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome |
| 589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| 59 | Allan-Herndon-Dudley syndrome |
| 590 | Congenital myasthenic syndrome |
| 590539 | Isolated melanotic schwannoma |
| 591 | Furuncular myiasis |
| 59135 | Laing early-onset distal myopathy |
| 59181 | Sorsby pseudoinflammatory fundus dystrophy |
| 592 | Macrophagic myofasciitis |
| 592564 | GNAO1-related developmental delay-seizures-movement disorder spectrum |
| 592570 | TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome |
| 592574 | Menke-Hennekam syndrome |
| 592850 | Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies |
| 592856 | Neuromyelitis optica spectrum disorder with anti-MOG antibodies |
| 592869 | Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies |
| 592873 | Acute transverse myelitis with anti-MOG antibodies |
| 592885 | Isolated optic neuritis without anti-MOG antibodies |
| 592888 | Isolated optic neuritis with anti-MOG antibodies |
| 592894 | Acute disseminated encephalomyelitis with anti-MOG antibodies |
| 592900 | Acute disseminated encephalomyelitis without anti-MOG antibodies |
| 59298 | Schilder disease |
| 59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome |
| 59306 | McLeod neuroacanthocytosis syndrome |
| 59315 | Rhombencephalosynapsis |
| 595098 | Timothy syndrome type 1 |
| 595105 | Timothy syndrome type 2 |
| 595109 | Atypical Timothy syndrome |
| 595133 | Perivascular epithelioid cell neoplasm |
| 595356 | Localized dystrophic epidermolysis bullosa |
| 596 | X-linked centronuclear myopathy |
| 596008 | Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis |
| 596448 | IgG4-related systemic disease |
| 596753 | VEXAS syndrome |
| 596759 | Combined immunodeficiency due to RELA haploinsufficiency |
| 596937 | Portosinusoidal vascular disease |
| 596941 | Incomplete septal cirrhosis |
| 597 | Central core disease |
| 597201 | TRIM22-related inflammatory bowel disease |
| 597623 | IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome |
| 597733 | Oculocutaneous albinism type 8 |
| 597738 | Luscan-Lumish syndrome |
| 597743 | SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome |
| 597746 | Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome |
| 597874 | MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome |
| 597887 | ALPI-related inflammatory bowel disease |
| 597939 | Euthyroid dysprealbuminemic hyperthyroxinemia |
| 598 | Multiminicore myopathy |
| 598164 | FOXG1 syndrome due to intragenic alteration |
| 598216 | Upper tract urothelial carcinoma |
| 598363 | Multisystem inflammatory syndrome in children and adults |
| 598603 | Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome |
| 599082 | CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome |
| 599373 | STXBP1-related encephalopathy |
| 599376 | Hypomyelination of early myelinating structures |
| 599418 | Hereditary angioedema with normal C1Inh not related to F12 or PLG variant |
| 599480 | Acquired hemophilia A |
| 599485 | Acquired hemophilia B |
| 599490 | Acquired factor V deficiency |
| 599495 | Acquired factor VII deficiency |
| 599501 | Acquired factor X deficiency |
| 599507 | Acquired factor XI deficiency |
| 599513 | Acquired factor XIII deficiency |
| 599519 | Factor V short isoforms-related bleeding disorder |
| 599579 | Factor V Amsterdam bleeding disorder |
| 6 | 3-methylcrotonyl-CoA carboxylase deficiency |
| 60 | Alpha-1-antitrypsin deficiency |
| 600 | Vocal cord and pharyngeal distal myopathy |
| 60014 | Argyria |
| 60015 | Enlarged parietal foramina |
| 600194 | Factor V Atlanta bleeding disorder |
| 60025 | Pulmonary alveolar microlithiasis |
| 60026 | Pulmonary nodular lymphoid hyperplasia |
| 60030 | Loeys-Dietz syndrome |
| 60032 | Recurrent respiratory papillomatosis |
| 60033 | Idiopathic bronchiectasis |
| 60039 | Pudendal neuralgia |
| 60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome |
| 60041 | Congenital heart block |
| 600663 | NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance |
| 600668 | CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome |
| 600691 | Combined deficiency of factor VII and factor X |
| 600731 | Clark-Baraitser syndrome |
| 600952 | Non-syndromic anorectal malformation with perineal fistula |
| 600961 | Non-syndromic anorectal malformation with rectourethral fistula |
| 600966 | Non-syndromic anorectal malformation with rectourethral fistula, bulbar type |
| 600975 | Non-syndromic anorectal malformation with rectourethral fistula, prostatic type |
| 600984 | Non-syndromic anorectal malformation with rectovesical fistula |
| 600993 | Non-syndromic anorectal malformation with vestibular fistula |
| 600998 | Non-syndromic cloacal malformation |
| 601002 | Non-syndromic anorectal malformation without fistula |
| 601008 | Non-syndromic anorectal malformation with anal stenosis |
| 601013 | Non-syndromic anorectal malformation with pouch colon |
| 601018 | Non-syndromic anorectal malformation with rectal atresia |
| 601023 | Non-syndromic anorectal malformation with rectal stenosis |
| 601028 | Non-syndromic anorectal malformation with rectovaginal fistula |
| 601033 | Non-syndromic anorectal malformation with H-type fistula |
| 602 | GNE myopathy |
| 603 | Distal myopathy, Welander type |
| 603448 | Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome |
| 603494 | Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome |
| 603515 | Isolated female hypospadias |
| 603684 | KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome |
| 603689 | KLHL7-related Bohring-Opitz-like syndrome |
| 603694 | KLHL7-related Crisponi/cold-induced sweating-like syndrome |
| 604680 | Symptomatic form of X-linked centronuclear myopathy in female carriers |
| 606 | Proximal myotonic myopathy |
| 609 | Tibial muscular dystrophy |
| 61 | Alpha-mannosidosis |
| 610 | Bethlem myopathy |
| 610569 | KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome |
| 610573 | CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome |
| 611 | Inclusion body myositis |
| 611201 | Oculogastrointestinal-neurodevelopmental syndrome |
| 611207 | Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome |
| 611216 | Aplastic anemia-intellectual disability-dwarfism syndrome |
| 611223 | EN1-related dorsoventral syndrome |
| 611237 | Parkinsonism with polyneuropathy |
| 611247 | Pontocerebellar hypoplasia type 11 |
| 611256 | Pontocerebellar hypoplasia type 12 |
| 613267 | Pontocerebellar hypoplasia type 13 |
| 613274 | Pontocerebellar hypoplasia type 14 |
| 614 | Thomsen and Becker disease |
| 615 | Familial atrial myxoma |
| 615938 | Spastic paraparesis-cataracts-speech delay syndrome |
| 615943 | Granuloma faciale |
| 615954 | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome |
| 615964 | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate |
| 615970 | Chronic intervillositis of unknown etiology |
| 615983 | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation |
| 615986 | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster |
| 616 | Medulloblastoma |
| 616874 | Rare disorder without a determined diagnosis after full investigation |
| 617 | Congenital primary megaureter |
| 617294 | Twin anemia-polycythemia sequence |
| 617297 | Twin-reversed arterial perfusion sequence |
| 617301 | Selective intrauterine growth restriction |
| 617304 | Amniotic fluid embolism |
| 617408 | Classic eosinophilic pustular folliculitis |
| 617440 | Painful legs and moving toes syndrome |
| 617449 | Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome |
| 617910 | Conjunctival malignant melanoma |
| 617916 | Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia |
| 617919 | F12-associated cold autoinflammatory syndrome |
| 617930 | Hemophilia B Leyden |
| 618 | Familial melanoma |
| 618891 | Chronic neurovisceral acid sphingomyelinase deficiency |
| 619233 | Hereditary persistence of fetal hemoglobin-intellectual disability syndrome |
| 619363 | Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 |
| 619367 | SAMD9L-associated autoinflammatory syndrome |
| 619941 | Immune deficiency due to impaired neutrophil phagocytosis and migration |
| 619948 | Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome |
| 619953 | Familial hyperinflammatory lymphoproliferative immunodeficiency |
| 619972 | CADINS disease |
| 619979 | Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome |
| 62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 |
| 620102 | Non-syndromic unicoronal craniosynostosis |
| 620113 | Non-syndromic unilambdoid craniosynostosis |
| 620139 | Non-syndromic unifrontosphenoidal craniosynostosis |
| 620146 | Non-syndromic unisquamosal craniosynostosis |
| 620158 | Non-syndromic non-specific multisutural craniosynostosis |
| 620178 | Non-syndromic bilambdoid craniosynostosis |
| 620186 | Non-syndromic unicoronal and sagittal craniosynostosis |
| 620192 | Non-syndromic metopic and sagittal craniosynostosis |
| 620198 | Non-syndromic bicoronal and metopic craniosynostosis |
| 620205 | Non-syndromic bicoronal and sagittal craniosynostosis |
| 620212 | Non-syndromic pansynostosis |
| 620217 | Bartter syndrome type 1 |
| 620220 | Bartter syndrome type 2 |
| 620363 | Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome |
| 620368 | EGF-related primary hypomagnesemia with intellectual disability |
| 620371 | Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation |
| 621 | Hereditary methemoglobinemia |
| 621758 | Fibrosis-neurodegeneration-cerebral angiomatosis syndrome |
| 622 | Homocystinuria without methylmalonic aciduria |
| 622099 | Superior mesenteric artery syndrome |
| 622925 | X-linked severe syndromic thoracic aortic aneurysm and dissection |
| 622934 | SBDS-related severe neonatal spondylometaphyseal dysplasia |
| 623615 | Autoimmune limbic encephalitis |
| 623626 | Paraneoplastic cerebellar degeneration |
| 623695 | MIR140-related spondyloepiphyseal dysplasia |
| 623789 | Body integrity dysphoria |
| 623801 | Acute flaccid myelitis |
| 624 | Familial multiple nevi flammei |
| 624166 | Non-specific autoimmune supratentorial encephalitis with characteristic antibodies |
| 624178 | Non-specific autoimmune supratentorial encephalitis without characteristic antibodies |
| 624190 | Paraneoplastic isolated brainstem encephalitis |
| 624199 | Non-specific autoimmune brainstem encephalitis with characteristic antibodies |
| 624216 | Non-specific autoimmune brainstem encephalitis without characteristic antibodies |
| 624244 | Postinfectious cerebellitis |
| 624259 | Non-specific autoimmune cerebellar ataxia with characteristic antibodies |
| 624268 | Non-specific autoimmune cerebellar ataxia without characteristic antibodies |
| 626 | Large congenital melanocytic nevus |
| 627 | Nance-Horan syndrome |
| 628 | Diastrophic dysplasia |
| 629 | Short stature due to growth hormone qualitative anomaly |
| 63 | Alport syndrome |
| 631 | Non-acquired isolated growth hormone deficiency |
| 631068 | Autosomal dominant spastic paraplegia type 80 |
| 631073 | Autosomal recessive spastic paraplegia type 82 |
| 631076 | Autosomal recessive spastic paraplegia type 83 |
| 631079 | Autosomal recessive spastic paraplegia type 84 |
| 631082 | Autosomal recessive spastic paraplegia type 85 |
| 631085 | Autosomal recessive spastic paraplegia type 86 |
| 631088 | Autosomal recessive spastic paraplegia type 87 |
| 631095 | Spinocerebellar ataxia type 44 |
| 631103 | Spinocerebellar ataxia type 48 |
| 631106 | Spinocerebellar ataxia type 49 |
| 631248 | Mitchell Syndrome |
| 631251 | Cancer of unknown primary site |
| 632 | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia |
| 63259 | Iniencephaly |
| 63260 | Craniorachischisis |
| 632603 | Mesomelic dysplasia-digital anomalies-intellectual disability syndrome |
| 63269 | Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis |
| 63273 | Distal myopathy with posterior leg and anterior hand involvement |
| 63275 | Pemphigoid gestationis |
| 633 | Laron syndrome |
| 633004 | KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome |
| 633014 | SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome |
| 633021 | SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome |
| 633024 | SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome |
| 633028 | CPE-related Prader-Willi-like syndrome |
| 633035 | Intellectual disability-early-onset cataract-microcephaly syndrome |
| 633076 | Split cord malformation, composite type |
| 633099 | PAICS deficiency |
| 633124 | Invasive scopulariopsis infection |
| 633211 | Preaxial digit brachydactyly-webbed fingers |
| 633228 | Proximal femoral focal deficiency |
| 634 | Netherton syndrome |
| 63442 | Angel-shaped phalango-epiphyseal dysplasia |
| 63446 | Acrocapitofemoral dysplasia |
| 634461 | Mosaic neurofibromatosis type 1 |
| 634475 | Mosaic NF2-related schwannomatosis |
| 634492 | Mosaic schwannomatosis |
| 634511 | Mosaic Legius syndrome |
| 63455 | Paraneoplastic pemphigus |
| 635 | Neuroblastoma |
| 636 | Neurofibromatosis type 1 |
| 636941 | Vascular Ehlers-Danlos-polymicrogyria syndrome |
| 636945 | Invasive Candidiasis |
| 636950 | Glaucomatocyclitic crisis disease |
| 636955 | Endemic pemphigus foliaceus |
| 636965 | Autosomal dominant myosin storage myopathy |
| 636970 | Autosomal recessive myosin storage myopathy |
| 637 | Full NF2-related schwannomatosis |
| 637013 | SMARCA2-related blepharophimosis-intellectual disability syndrome |
| 637051 | Borna virus encephalitis |
| 637061 | Isolated optic nerve hypoplasia |
| 637064 | Isolated optic nerve aplasia |
| 638 | Neurofibromatosis-Noonan syndrome |
| 63862 | Schisis association |
| 639 | Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG |
| 63999 | IgG4-related mediastinitis |
| 64 | Alström syndrome |
| 640 | Hereditary neuropathy with liability to pressure palsies |
| 641 | Multifocal motor neuropathy |
| 641350 | Immunotherapy induced hypophysitis |
| 641353 | Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome |
| 641361 | Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome |
| 641368 | Autosomal recessive hyper-IgE syndrome |
| 641372 | B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) |
| 641375 | B-lymphoblastic leukemia/lymphoma with t(17;19) |
| 641380 | PAPASH syndrome |
| 641385 | PASS syndrome |
| 641390 | PsAPASH syndrome |
| 641396 | Central nervous system tuberculosis |
| 641496 | Childhood-onset schizophrenia |
| 641829 | Neonatal compartment syndrome |
| 642 | Hereditary sensory and autonomic neuropathy type 4 |
| 642071 | Primary pulmonary vein stenosis |
| 642085 | Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type |
| 642099 | Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type |
| 642671 | Familial hyperaldosteronism type IV |
| 642675 | CHD8 overgrowth syndrome |
| 642691 | Fragile X-associated primary ovarian insufficiency |
| 642747 | PUM1-related cerebellar ataxia |
| 642763 | Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation |
| 642788 | Cushing syndrome due to cortisol-producing adrenocortical adenoma |
| 64280 | Childhood absence epilepsy |
| 642945 | Perrault syndrome type 1 |
| 642954 | Autosomal recessive ataxia due to PEX16 deficiency |
| 642965 | Autosomal recessive ataxia due to PEX2 deficiency |
| 642976 | Perrault syndrome type 2 |
| 643 | Giant axonal neuropathy |
| 643503 | Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome |
| 643538 | Hao-Fountain syndrome due to USP7 mutation |
| 643549 | Hao-Fountain syndrome |
| 644 | NARP syndrome |
| 645188 | Spinal dermal sinus |
| 645285 | Chaotic conus spinal cord lipoma |
| 645288 | Terminal extramedullary conus spinal cord lipoma |
| 645291 | Transitional extramedullary conus spinal cord lipoma |
| 645294 | Posterior extramedullary conus spinal cord lipoma |
| 645297 | Extramedullary conus spinal cord lipoma |
| 645300 | Lipomatous non-saccular limited dorsal myeloschisis |
| 645310 | Fibroneural non-saccular limited dorsal myeloschisis |
| 645322 | Isolated transitional filum lipoma |
| 645325 | Isolated filum lipoma |
| 645334 | Retained medullary cord |
| 645337 | Terminal myelocystocele |
| 645340 | Non-terminal myelocystocele |
| 645343 | Non-saccular limited dorsal myeloschisis |
| 645350 | Segmental arterial mediolysis |
| 645354 | Saccular limited dorsal myeloschisis |
| 645359 | Intramedullary non-dysraphic spinal cord lipoma |
| 645362 | Dorsal spinal cord lipoma |
| 645378 | Myelic limited dorsal malformation |
| 645383 | True myelomeningocele |
| 645388 | Hemi-myelomeningocele |
| 645393 | Hemi-myeloschisis |
| 645398 | Myeloschisis |
| 645401 | True myeloschisis |
| 64542 | Acrofacial dysostosis, Kennedy-Teebi type |
| 64545 | Benign idiopathic neonatal seizures |
| 645613 | Classical dermatomyositis |
| 645617 | Amyopathic dermatomyositis |
| 645626 | Adermatopathic dermatomyositis |
| 645749 | Congenital esophageal stenosis |
| 645793 | Spontaneous intestinal perforation |
| 645807 | Primary tuberculous lymphadenitis |
| 645814 | Primary pulmonary tuberculosis |
| 645822 | Primary bone and joint tuberculosis |
| 645849 | Primary cutaneous tuberculosis |
| 645854 | Multifocal tuberculosis |
| 645859 | Primary tuberculosis of the digestive system |
| 645874 | Primary genito-urinary tuberculosis |
| 646 | Niemann-Pick disease type C |
| 646113 | Intermediate collagen VI-related muscular dystrophy |
| 646136 | Dysplastic cortical hyperostosis, Al-Gazali type |
| 646139 | Dysplastic cortical hyperostosis |
| 646278 | CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome |
| 64686 | Tolosa-Hunt syndrome |
| 64692 | Oroya fever |
| 64694 | Trench fever |
| 647 | Nijmegen breakage syndrome |
| 64720 | Leiomyosarcoma |
| 64722 | Granulomatous mastitis |
| 64734 | Iridocorneal endothelial syndrome |
| 64739 | Ovarian hyperstimulation syndrome |
| 64741 | Pulmonary blastoma |
| 64742 | Pleuropulmonary blastoma |
| 64743 | Hepatoportal sclerosis |
| 64744 | IgG4-related thyroid disease |
| 64745 | Pruritic urticarial papules and plaques of pregnancy |
| 64748 | Dejerine-Sottas syndrome |
| 64751 | Hereditary motor and sensory neuropathy type 5 |
| 64752 | Hereditary sensory and autonomic neuropathy type 5 |
| 64753 | Spinocerebellar ataxia with axonal neuropathy type 2 |
| 64754 | Nevus comedonicus syndrome |
| 64755 | Becker nevus syndrome |
| 647667 | Mandibuloacral dysplasia associated to MTX2 |
| 647676 | Multiple epiphyseal dysplasia type 7 |
| 647681 | Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome |
| 647772 | Isolated primary pigmented nodular adrenocortical disease |
| 647782 | Isolated micronodular adrenocortical disease |
| 647788 | Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome |
| 647794 | Isolated persistent urogenital sinus |
| 647799 | MYT1L-related developmental delay-intellectual disability-obesity syndrome |
| 647804 | Combined immunodeficiency due to FCHO1 deficiency |
| 647811 | Cardiac-urogenital syndrome |
| 647815 | Keratoendotheliitis fugax hereditaria |
| 647823 | Idiopathic pregnancy-associated osteoporosis |
| 647834 | SLC40A1-related hemochromatosis |
| 647916 | Conjoined twins |
| 648 | Noonan syndrome |
| 648562 | Ferroportin Disease |
| 648581 | Digenic hemochromatosis |
| 648665 | Infectious scleritis |
| 648675 | Idiopathic scleritis |
| 648681 | Immune-mediated scleritis |
| 648684 | Central retinal artery occlusion |
| 648919 | Idiopathic catatonia |
| 648992 | Non-syndromic bridging bronchus |
| 649 | Norrie disease |
| 649010 | Non-syndromic congenital bronchial atresia |
| 649029 | Isolated left bronchial isomerism |
| 65 | Leber congenital amaurosis |
| 650 | LCAT deficiency |
| 650077 | Genetic central precocious puberty in female |
| 650082 | Secondary central precocious puberty in female |
| 650087 | Primary central precocious puberty in male |
| 650092 | Secondary central precocious puberty in male |
| 650097 | Genetic central precocious puberty in male |
| 650102 | Non-genetic central precocious puberty in male |
| 652 | Multiple endocrine neoplasia type 1 |
| 65250 | Perineural cyst |
| 65282 | Carvajal syndrome |
| 65283 | Timothy syndrome |
| 65284 | Biotin-thiamine-responsive basal ganglia disease |
| 65285 | Lhermitte-Duclos disease |
| 65286 | 3q29 microdeletion syndrome |
| 65287 | Beta-ureidopropionase deficiency |
| 65288 | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome |
| 653 | Multiple endocrine neoplasia type 2 |
| 654 | Nephroblastoma |
| 655 | Nephronophthisis |
| 656 | Genetic steroid-resistant nephrotic syndrome |
| 65681 | Vaginal atresia |
| 65682 | Benign recurrent intrahepatic cholestasis |
| 65683 | Isolated focal cortical dysplasia |
| 65684 | Monomelic amyotrophy |
| 65720 | Arthrogryposis-severe scoliosis syndrome |
| 65743 | Autosomal dominant multiple pterygium syndrome |
| 65748 | Multiple self-healing squamous epithelioma |
| 65759 | Carpenter syndrome |
| 65798 | Goodman syndrome |
| 659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques |
| 660 | Omphalocele |
| 661 | Congenital central hypoventilation syndrome |
| 662 | Yellow nail syndrome |
| 663 | Mitochondrial DNA-related progressive external ophthalmoplegia |
| 664 | Ornithine transcarbamylase deficiency |
| 66518 | Short fifth metacarpals-insulin resistance syndrome |
| 66529 | Tako-Tsubo cardiomyopathy |
| 666 | Osteogenesis imperfecta |
| 66624 | PANDAS |
| 66625 | Cerebrooculonasal syndrome |
| 66627 | Tenosynovial giant cell tumor |
| 66628 | Obesity due to congenital leptin deficiency |
| 66629 | Goldberg-Shprintzen megacolon syndrome |
| 66630 | Congenital pseudoarthrosis of the clavicle |
| 66631 | CEDNIK syndrome |
| 66633 | Sensorineural hearing loss-early graying-essential tremor syndrome |
| 66634 | Dilated cardiomyopathy with ataxia |
| 66637 | Diaphanospondylodysostosis |
| 66661 | Mast cell sarcoma |
| 66662 | Extracutaneous mastocytoma |
| 667 | Autosomal recessive malignant osteopetrosis |
| 668 | Osteosarcoma |
| 67 | Amoebiasis due to Entamoeba histolytica |
| 67036 | Autosomal dominant optic atrophy and cataract |
| 67038 | B-cell chronic lymphocytic leukemia |
| 67039 | Segmental odontomaxillary dysplasia |
| 67041 | Hyaluronidase deficiency |
| 67042 | Late-onset retinal degeneration |
| 67043 | Amoebic keratitis |
| 67044 | Thrombocytopenia with congenital dyserythropoietic anemia |
| 67045 | X-linked intellectual disability with isolated growth hormone deficiency |
| 67046 | 3-methylglutaconic aciduria type 1 |
| 67047 | 3-methylglutaconic aciduria type 3 |
| 67048 | 3-methylglutaconic aciduria type 4 |
| 672 | Pallister-Hall syndrome |
| 673 | Malaria |
| 674 | Accessory pancreas |
| 675 | Annular pancreas |
| 676 | Hereditary chronic pancreatitis |
| 677 | Pancreatoblastoma |
| 678 | Papillon-Lefèvre syndrome |
| 679 | Malignant atrophic papulosis |
| 68 | Amoebiasis due to free-living amoebae |
| 681 | Hypokalemic periodic paralysis |
| 682 | Hyperkalemic periodic paralysis |
| 683 | Progressive supranuclear palsy |
| 684 | Paramyotonia congenita of Von Eulenburg |
| 69061 | Idiopathic steroid-sensitive nephrotic syndrome |
| 69063 | Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization |
| 69076 | Familial renal glucosuria |
| 69077 | Rhabdoid tumor |
| 69078 | Liposarcoma |
| 69082 | Odonto-tricho-ungual-digito-palmar syndrome |
| 69083 | Ectodermal dysplasia with natal teeth, Turnpenny type |
| 69084 | Pure hair and nail ectodermal dysplasia |
| 69085 | Limb-mammary syndrome |
| 69087 | Naegeli-Franceschetti-Jadassohn syndrome |
| 69088 | Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome |
| 69125 | Anonychia with flexural pigmentation |
| 69126 | PAPA syndrome |
| 69663 | Low phospholipid-associated cholelithiasis |
| 69665 | Intrahepatic cholestasis of pregnancy |
| 69723 | Tyrosinemia type 3 |
| 69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
| 69736 | Bilateral acute depigmentation of the iris |
| 69737 | Bosley-Salih-Alorainy syndrome |
| 69739 | Athabaskan brainstem dysgenesis syndrome |
| 69744 | Circumscribed palmoplantar hypokeratosis |
| 69745 | Warty dyskeratoma |
| 699 | Pearson syndrome |
| 7 | 3C syndrome |
| 70 | Proximal spinal muscular atrophy |
| 700 | Alopecia totalis |
| 701 | Alopecia universalis |
| 702 | Pelizaeus-Merzbacher disease |
| 703 | Bullous pemphigoid |
| 704 | Pemphigus vulgaris |
| 70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type |
| 70475 | Radiation proctitis |
| 70476 | Vernal keratoconjunctivitis |
| 705 | Pendred syndrome |
| 70567 | Cholangiocarcinoma |
| 70568 | Post-transplant lymphoproliferative disease |
| 70573 | Small cell lung cancer |
| 70578 | Adult acute respiratory distress syndrome |
| 70587 | Infant acute respiratory distress syndrome |
| 70588 | Meconium aspiration syndrome |
| 70589 | Bronchopulmonary dysplasia |
| 70590 | Infantile apnea |
| 70591 | Chronic thromboembolic pulmonary hypertension |
| 70592 | Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency |
| 70593 | Immunodeficiency due to selective anti-polysaccharide antibody deficiency |
| 70594 | Dopa-responsive dystonia due to sepiapterin reductase deficiency |
| 70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome |
| 70596 | Congenital Epstein-Barr virus infection |
| 707 | Plague |
| 708 | Peters anomaly |
| 709 | Peters plus syndrome |
| 71 | Chylomicron retention disease |
| 710 | Pfeiffer syndrome |
| 712 | Hemolytic anemia due to glucophosphate isomerase deficiency |
| 71211 | Neuromyelitis optica spectrum disorder |
| 71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency |
| 71213 | Retinal capillary malformation |
| 71267 | Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome |
| 71271 | Split hand-split foot-deafness syndrome |
| 71272 | Sandifer syndrome |
| 71273 | Renal nutcracker syndrome |
| 71274 | Disseminated peritoneal leiomyomatosis |
| 71275 | Rh deficiency syndrome |
| 71276 | Silent sinus syndrome |
| 71277 | Classic glucose transporter type 1 deficiency syndrome |
| 71278 | Congenital brain dysgenesis due to glutamine synthetase deficiency |
| 71279 | CANOMAD syndrome |
| 71289 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome |
| 71290 | Familial platelet disorder with associated myeloid malignancy |
| 713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency |
| 714 | Hemolytic anemia due to diphosphoglycerate mutase deficiency |
| 71493 | Familial thrombocytosis |
| 715 | Glycogen storage disease due to muscle phosphorylase kinase deficiency |
| 71505 | Cancer-associated retinopathy |
| 71517 | Rapid-onset dystonia-parkinsonism |
| 71518 | Benign paroxysmal torticollis of infancy |
| 71519 | Psychogenic movement disorders |
| 71526 | Obesity due to pro-opiomelanocortin deficiency |
| 71528 | Obesity due to prohormone convertase I deficiency |
| 71529 | Obesity due to melanocortin 4 receptor deficiency |
| 716 | Phenylketonuria |
| 718 | Isolated Pierre Robin syndrome |
| 72 | Angelman syndrome |
| 720 | Pili bifurcati |
| 721 | Gray platelet syndrome |
| 722 | Hypoplasminogenemia |
| 723 | Pneumocystosis |
| 724 | Idiopathic acute eosinophilic pneumonia |
| 725 | Continuous spikes and waves during sleep |
| 726 | Alpers-Huttenlocher syndrome |
| 727 | Microscopic polyangiitis |
| 728 | Relapsing polychondritis |
| 729 | Polycythemia vera |
| 73 | Gorham-Stout disease |
| 730 | Autosomal dominant polycystic kidney disease |
| 731 | Autosomal recessive polycystic kidney disease |
| 732 | Polymyositis |
| 73223 | Global developmental delay-osteopenia-ectodermal defect syndrome |
| 73224 | Kidney tubulopathy-dilated cardiomyopathy syndrome |
| 73229 | HANAC syndrome |
| 73230 | Ossification anomalies-psychomotor developmental delay syndrome |
| 73245 | Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome |
| 73246 | Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome |
| 73256 | Central neurocytoma |
| 73260 | Paracoccidioidomycosis |
| 73263 | Zygomycosis |
| 73267 | Non-24-hour sleep-wake syndrome |
| 73271 | Bleeding diathesis due to a collagen receptor defect |
| 73272 | Growth delay due to insulin-like growth factor type 1 deficiency |
| 73273 | Growth delay due to insulin-like growth factor I resistance |
| 733 | Familial adenomatous polyposis |
| 734 | Alpha delta granule deficiency |
| 73423 | Acute ackee fruit intoxication |
| 735 | Porokeratosis of Mibelli |
| 737 | Porokeratosis plantaris palmaris et disseminata |
| 739 | Prader-Willi syndrome |
| 74 | Angiostrongyliasis |
| 740 | Hutchinson-Gilford progeria syndrome |
| 741 | Familial mitral valve prolapse |
| 742 | Prolidase deficiency |
| 743 | Severe hereditary thrombophilia due to congenital protein S deficiency |
| 744 | Proteus syndrome |
| 745 | Severe hereditary thrombophilia due to congenital protein C deficiency |
| 746 | Mitochondrial trifunctional protein deficiency |
| 747 | Autoimmune pulmonary alveolar proteinosis |
| 749 | Congenital prekallikrein deficiency |
| 750 | Pseudoachondroplasia |
| 752 | 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency |
| 75233 | Wolman disease |
| 75234 | Cholesteryl ester storage disease |
| 75249 | Familial isolated restrictive cardiomyopathy |
| 753 | 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency |
| 75325 | Osteosclerosis-ichthyosis-premature ovarian failure syndrome |
| 75326 | Retinal arterial tortuosity |
| 75327 | North Carolina macular dystrophy |
| 75373 | Progressive bifocal chorioretinal atrophy |
| 75374 | Bradyopsia |
| 75376 | Familial drusen |
| 75377 | Central areolar choroidal dystrophy |
| 75378 | Oligocone trichromacy |
| 75381 | Cystoid macular dystrophy |
| 75382 | Oguchi disease |
| 75389 | Brain malformation-congenital heart disease-postaxial polydactyly syndrome |
| 75391 | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| 75392 | Periodontal Ehlers-Danlos syndrome |
| 75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome |
| 75497 | X-linked Ehlers-Danlos syndrome |
| 755 | Leydig cell hypoplasia |
| 75508 | Angioosteohypotrophic syndrome |
| 75563 | X-linked sideroblastic anemia |
| 75564 | Acquired idiopathic sideroblastic anemia |
| 75565 | Tropical endomyocardial fibrosis |
| 75566 | Loeffler endocarditis |
| 75567 | Primary progressive freezing gait |
| 756 | Pseudohypoaldosteronism type 1 |
| 757 | Pseudohypoaldosteronism type 2 |
| 758 | Pseudoxanthoma elasticum |
| 75840 | Congenital muscular dystrophy, Ullrich type |
| 75857 | 6q terminal deletion syndrome |
| 75858 | MORM syndrome |
| 76 | Strongyloidiasis |
| 760 | Purine nucleoside phosphorylase deficiency |
| 761 | Immunoglobulin A vasculitis |
| 763 | Pycnodysostosis |
| 764 | Pyomyositis |
| 765 | Pyruvate dehydrogenase deficiency |
| 766 | Hemolytic anemia due to red cell pyruvate kinase deficiency |
| 767 | Polyarteritis nodosa |
| 769 | Rabson-Mendenhall syndrome |
| 770 | Rabies |
| 772 | Infantile Refsum disease |
| 77258 | Trichorhinophalangeal syndrome type 1 |
| 77259 | Gaucher disease type 1 |
| 77260 | Gaucher disease type 2 |
| 77261 | Gaucher disease type 3 |
| 77292 | Infantile neurovisceral acid sphingomyelinase deficiency |
| 77293 | Chronic visceral acid sphingomyelinase deficiency |
| 77295 | Odontoleukodystrophy |
| 77296 | Morgagni-Stewart-Morel syndrome |
| 77297 | Majeed syndrome |
| 77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome |
| 77299 | Microphthalmia-brain atrophy syndrome |
| 773 | Refsum disease |
| 77300 | Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome |
| 77301 | Monosomy 9q22.3 |
| 774 | Hereditary hemorrhagic telangiectasia |
| 776 | Lujan-Fryns syndrome |
| 777 | X-linked non-syndromic intellectual disability |
| 778 | Rett syndrome |
| 779 | Reynolds syndrome |
| 78 | Ankylostomiasis |
| 780 | Rhabdomyosarcoma |
| 781 | Q fever |
| 782 | Axenfeld-Rieger syndrome |
| 783 | Rubinstein-Taybi syndrome |
| 785 | Estrogen resistance syndrome |
| 786 | Generalized glucocorticoid resistance syndrome |
| 79 | Congenital alpha2-antiplasmin deficiency |
| 790 | Retinoblastoma |
| 79076 | Juvenile polyposis of infancy |
| 79078 | IgG4-related dacryoadenitis and sialadenitis |
| 79083 | PPARG-related familial partial lipodystrophy |
| 79084 | Familial partial lipodystrophy, Köbberling type |
| 79085 | AKT2-related familial partial lipodystrophy |
| 79086 | Acquired generalized lipodystrophy |
| 79087 | Acquired partial lipodystrophy |
| 79091 | Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome |
| 79093 | Foix-Alajouanine syndrome |
| 79094 | Grange syndrome |
| 79095 | Congenital bile acid synthesis defect type 4 |
| 79096 | Pyridoxal phosphate-responsive seizures |
| 79097 | Folinic acid-responsive seizures |
| 79098 | Sympathetic ophthalmia |
| 79099 | Interstitial granulomatous dermatitis with arthritis |
| 791 | Retinitis pigmentosa |
| 79100 | Atrophoderma vermiculata |
| 79101 | Hyperprolinemia type 2 |
| 79102 | Thyrotoxic periodic paralysis |
| 79105 | Myxofibrosarcoma |
| 79106 | Eiken syndrome |
| 79107 | Developmental malformations-deafness-dystonia syndrome |
| 79113 | Mandibulofacial dysostosis-microcephaly syndrome |
| 79118 | Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome |
| 79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome |
| 79126 | Acute interstitial pneumonia |
| 79127 | Respiratory bronchiolitis-interstitial lung disease syndrome |
| 79128 | Lymphoid interstitial pneumonia |
| 79129 | Trichodysplasia-amelogenesis imperfecta syndrome |
| 79133 | Focal facial dermal dysplasia type I |
| 79134 | DEND syndrome |
| 79135 | Episodic ataxia type 3 |
| 79136 | Episodic ataxia type 4 |
| 79137 | Generalized epilepsy-paroxysmal dyskinesia syndrome |
| 79138 | Bickerstaff brainstem encephalitis |
| 79139 | Japanese encephalitis |
| 79140 | Cutaneous neuroendocrine carcinoma |
| 79141 | Hereditary painful callosities |
| 79143 | Isolated congenital anonychia |
| 79144 | Isolated congenital onychodysplasia |
| 79145 | Dowling-Degos disease |
| 79146 | Familial progressive hyperpigmentation |
| 79147 | Familial reactive perforating collagenosis |
| 79148 | Elastosis perforans serpiginosa |
| 79149 | Dermochondrocorneal dystrophy |
| 79150 | Linear and whorled nevoid hypermelanosis |
| 79151 | Acrokeratosis verruciformis of Hopf |
| 79152 | Disseminated superficial actinic porokeratosis |
| 79153 | Idiopathic trachyonychia |
| 79154 | 2-aminoadipic 2-oxoadipic aciduria |
| 79155 | Hydroxykynureninuria |
| 79156 | Seizures-intellectual disability due to hydroxylysinuria syndrome |
| 79157 | 2-methylbutyryl-CoA dehydrogenase deficiency |
| 79159 | Isobutyryl-CoA dehydrogenase deficiency |
| 792 | X-linked retinoschisis |
| 79230 | HJV or HAMP-related hemochromatosis |
| 79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency |
| 79234 | Crigler-Najjar syndrome type 1 |
| 79235 | Crigler-Najjar syndrome type 2 |
| 79237 | Galactokinase deficiency |
| 79238 | Galactose epimerase deficiency |
| 79239 | Classic galactosemia |
| 79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency |
| 79241 | Biotinidase deficiency |
| 79242 | Holocarboxylase synthetase deficiency |
| 79243 | Pyruvate dehydrogenase E1-alpha deficiency |
| 79244 | Pyruvate dehydrogenase E2 deficiency |
| 79246 | Pyruvate dehydrogenase phosphatase deficiency |
| 79253 | Mild phenylketonuria |
| 79254 | Classic phenylketonuria |
| 79255 | GM1 gangliosidosis type 1 |
| 79256 | GM1 gangliosidosis type 2 |
| 79257 | GM1 gangliosidosis type 3 |
| 79258 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia |
| 79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib |
| 79262 | Adult neuronal ceroid lipofuscinosis |
| 79263 | Infantile neuronal ceroid lipofuscinosis |
| 79264 | Juvenile neuronal ceroid lipofuscinosis |
| 79269 | Sanfilippo syndrome type A |
| 79270 | Sanfilippo syndrome type B |
| 79271 | Sanfilippo syndrome type C |
| 79272 | Sanfilippo syndrome type D |
| 79273 | Hereditary coproporphyria |
| 79276 | Acute intermittent porphyria |
| 79277 | Congenital erythropoietic porphyria |
| 79278 | Autosomal erythropoietic protoporphyria |
| 79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 |
| 79280 | Alpha-N-acetylgalactosaminidase deficiency type 2 |
| 79281 | Alpha-N-acetylgalactosaminidase deficiency type 3 |
| 79282 | Methylmalonic acidemia with homocystinuria, type cblC |
| 79283 | Methylmalonic acidemia with homocystinuria, type cblD |
| 79284 | Methylmalonic acidemia with homocystinuria type cblF |
| 79292 | Fish-eye disease |
| 79293 | Familial LCAT deficiency |
| 79299 | Congenital glucokinase-related hyperinsulinism |
| 793 | SAPHO syndrome |
| 79301 | Congenital bile acid synthesis defect type 1 |
| 79302 | Congenital bile acid synthesis defect type 3 |
| 79303 | Congenital bile acid synthesis defect type 2 |
| 79304 | Progressive familial intrahepatic cholestasis type 2 |
| 79305 | Progressive familial intrahepatic cholestasis type 3 |
| 79306 | Progressive familial intrahepatic cholestasis type 1 |
| 79310 | Vitamin B12-responsive methylmalonic acidemia type cblA |
| 79311 | Vitamin B12-responsive methylmalonic acidemia type cblB |
| 79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- |
| 79314 | L-2-hydroxyglutaric aciduria |
| 79315 | D-2-hydroxyglutaric aciduria |
| 79318 | PMM2-CDG |
| 79319 | MPI-CDG |
| 79320 | ALG6-CDG |
| 79321 | ALG3-CDG |
| 79322 | DPM1-CDG |
| 79323 | MPDU1-CDG |
| 79324 | ALG12-CDG |
| 79325 | ALG8-CDG |
| 79326 | ALG2-CDG |
| 79327 | ALG1-CDG |
| 79328 | ALG9-CDG |
| 79329 | MGAT2-CDG |
| 79330 | MOGS-CDG |
| 79332 | B4GALT1-CDG |
| 79333 | COG7-CDG |
| 79345 | Brachytelephalangic chondrodysplasia punctata |
| 79346 | Chondrodysplasia punctata, tibial-metacarpal type |
| 79347 | Chondrodysplasia punctata, Toriello type |
| 79350 | 3-phosphoserine phosphatase deficiency, infantile/juvenile form |
| 79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form |
| 79394 | Congenital ichthyosiform erythroderma |
| 79395 | Keratoderma hereditarium mutilans with ichthyosis |
| 79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form |
| 79397 | Epidermolysis bullosa simplex with mottled pigmentation |
| 79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form |
| 794 | Saethre-Chotzen syndrome |
| 79400 | Localized epidermolysis bullosa simplex |
| 79401 | PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement |
| 79402 | Intermediate generalized junctional epidermolysis bullosa |
| 79403 | Junctional epidermolysis bullosa with pyloric atresia |
| 79404 | Severe generalized junctional epidermolysis bullosa |
| 79405 | Junctional epidermolysis bullosa inversa |
| 79406 | Late-onset junctional epidermolysis bullosa |
| 79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form |
| 79409 | Recessive dystrophic epidermolysis bullosa inversa |
| 79410 | Localized dystrophic epidermolysis bullosa, pretibial form |
| 79411 | Self-improving dystrophic epidermolysis bullosa |
| 79414 | Woolly hair nevus |
| 79430 | Hermansky-Pudlak syndrome |
| 79431 | Oculocutaneous albinism type 1A |
| 79432 | Oculocutaneous albinism type 2 |
| 79433 | Oculocutaneous albinism type 3 |
| 79434 | Oculocutaneous albinism type 1B |
| 79435 | Oculocutaneous albinism type 4 |
| 79443 | Pseudohypoparathyroidism type 1A |
| 79444 | Pseudohypoparathyroidism type 1C |
| 79445 | Pseudopseudohypoparathyroidism |
| 79447 | X-linked lethal multiple pterygium syndrome |
| 79452 | Milroy disease |
| 79455 | Cutaneous mastocytoma |
| 79456 | Diffuse cutaneous mastocytosis |
| 79457 | Maculopapular cutaneous mastocytosis |
| 79466 | Inflammatory linear verrucous epidermal nevus |
| 79467 | Verrucous nevus |
| 79468 | Acanthokeratolytic verrucous nevus |
| 79473 | Porphyria variegata |
| 79474 | Atypical Werner syndrome |
| 79476 | Griscelli syndrome type 1 |
| 79477 | Griscelli syndrome type 2 |
| 79478 | Griscelli syndrome type 3 |
| 79479 | Pemphigus vegetans |
| 79480 | Pemphigus erythematosus |
| 79481 | Pemphigus foliaceus |
| 79483 | Phakomatosis cesioflammea |
| 79484 | Phakomatosis cesiomarmorata |
| 79485 | Phakomatosis spilorosea |
| 79489 | Macrocystic lymphatic malformation |
| 79490 | Microcystic lymphatic malformation |
| 79492 | Pili gemini |
| 79493 | Brooke-Spiegler syndrome |
| 79495 | X-linked congenital generalized hypertrichosis |
| 79499 | Autosomal dominant deafness-onychodystrophy syndrome |
| 79500 | DOORS syndrome |
| 79501 | Punctate palmoplantar keratoderma type 1 |
| 79502 | Punctate palmoplantar keratoderma type 2 |
| 79503 | Ichthyosis hystrix of Curth-Macklin |
| 79506 | Cholesterol-ester transfer protein deficiency |
| 79507 | Hypotonia-failure to thrive-microcephaly syndrome |
| 796 | Sandhoff disease |
| 79643 | Autosomal recessive hyperinsulinism due to SUR1 deficiency |
| 79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency |
| 79651 | Mild hyperphenylalaninemia |
| 79665 | Gardner syndrome |
| 797 | Sarcoidosis |
| 798 | Schinzel-Giedion syndrome |
| 799 | Schizencephaly |
| 8 | 47,XYY syndrome |
| 80 | Antiphospholipid syndrome |
| 800 | Schwartz-Jampel syndrome |
| 803 | Amyotrophic lateral sclerosis |
| 805 | Tuberous sclerosis complex |
| 806 | Scott syndrome |
| 808 | Seckel syndrome |
| 809 | Mixed connective tissue disease |
| 81 | Antisynthetase syndrome |
| 810 | Shigellosis |
| 811 | Shwachman-Diamond syndrome |
| 812 | Sialidosis type 1 |
| 813 | Silver-Russell syndrome |
| 816 | Sjögren-Larsson syndrome |
| 818 | Smith-Lemli-Opitz syndrome |
| 819 | Smith-Magenis syndrome |
| 82 | Hereditary thrombophilia due to congenital antithrombin deficiency |
| 820 | Sneddon syndrome |
| 821 | Sotos syndrome |
| 822 | Hereditary spherocytosis |
| 824 | Primary myelofibrosis |
| 826 | Sporotrichosis |
| 827 | Stargardt disease |
| 828 | Stickler syndrome |
| 829 | Adult-onset Still disease |
| 83 | Antley-Bixler syndrome |
| 831 | Congenital cervical spinal stenosis |
| 832 | Succinyl-CoA:3-oxoacid CoA transferase deficiency |
| 833 | Encephalopathy due to sulfite oxidase deficiency |
| 83311 | Rocky Mountain spotted fever |
| 83312 | Rickettsialpox |
| 83313 | Boutonneuse fever |
| 83314 | Epidemic typhus |
| 83315 | Murine typhus |
| 83316 | Pseudotyphus of California |
| 83317 | Scrub typhus |
| 83330 | Proximal spinal muscular atrophy type 1 |
| 834 | Free sialic acid storage disease |
| 83418 | Proximal spinal muscular atrophy type 2 |
| 83419 | Proximal spinal muscular atrophy type 3 |
| 83420 | Proximal spinal muscular atrophy type 4 |
| 83450 | Regional odontodysplasia |
| 83451 | Florid cemento-osseous dysplasia |
| 83452 | Complex regional pain syndrome |
| 83453 | Vulvovaginal gingival syndrome |
| 83454 | Glomuvenous malformation |
| 83461 | Congenital primary aphakia |
| 83463 | Microtia |
| 83465 | Narcolepsy type 2 |
| 83467 | Morvan syndrome |
| 83468 | Solitary bone cyst |
| 83469 | Desmoplastic small round cell tumor |
| 83471 | T-cell immunodeficiency with thymic aplasia |
| 83472 | CAMOS syndrome |
| 83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome |
| 83476 | West-Nile encephalitis |
| 83482 | Mycoplasma encephalitis |
| 83483 | La Crosse encephalitis |
| 83484 | St. Louis encephalitis |
| 83593 | Western equine encephalitis |
| 83594 | Eastern equine encephalitis |
| 83595 | Colorado tick fever |
| 83597 | Acute disseminated encephalomyelitis |
| 83600 | Encephalitis lethargica |
| 83601 | Steroid-responsive encephalopathy associated with autoimmune thyroiditis |
| 83616 | Rubella panencephalitis |
| 83617 | Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome |
| 83619 | Macrostomia-preauricular tags-external ophthalmoplegia syndrome |
| 83620 | Enteric anendocrinosis |
| 83628 | LUMBAR syndrome |
| 83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome |
| 83639 | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency |
| 83642 | Microcytic anemia with liver iron overload |
| 838 | Susac syndrome |
| 839 | Congenital nephrotic syndrome, Finnish type |
| 84 | Fanconi anemia |
| 840 | Syringocystadenoma papilliferum |
| 84064 | Syndromic diarrhea |
| 84065 | Idiopathic malabsorption due to bile acid synthesis defects |
| 84081 | Senior-Boichis syndrome |
| 84085 | Hinman syndrome |
| 84087 | Collagen type III glomerulopathy |
| 84090 | Fibronectin glomerulopathy |
| 84093 | Hereditary thermosensitive neuropathy |
| 841 | Sebocystomatosis |
| 84132 | Desmin-related myopathy with Mallory body-like inclusions |
| 84142 | Isaacs syndrome |
| 842 | Testicular seminomatous germ cell tumor |
| 844 | Lown-Ganong-Levine syndrome |
| 845 | Tay-Sachs disease |
| 846 | Alpha-thalassemia |
| 847 | Alpha-thalassemia-X-linked intellectual disability syndrome |
| 848 | Beta-thalassemia |
| 849 | Glanzmann thrombasthenia |
| 851 | Paris-Trousseau thrombocytopenia |
| 85110 | Familial encephalopathy with neuroserpin inclusion bodies |
| 85112 | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome |
| 85128 | Bothnia retinal dystrophy |
| 85136 | Cystic leukoencephalopathy without megalencephaly |
| 85138 | Addison disease |
| 85146 | Neurogenic scapuloperoneal syndrome, Kaeser type |
| 85162 | Facial onset sensory and motor neuronopathy |
| 85163 | Hypomyelination-congenital cataract syndrome |
| 85164 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome |
| 85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
| 85166 | Platyspondylic dysplasia, Torrance type |
| 85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| 85168 | Craniofacial conodysplasia |
| 85169 | Familial digital arthropathy-brachydactyly |
| 85170 | Mesomelic dysplasia, Savarirayan type |
| 85172 | Microcephalic osteodysplastic dysplasia, Saul-Wilson type |
| 85173 | IMAGe syndrome |
| 85174 | Pseudodiastrophic dysplasia |
| 85175 | Astley-Kendall dysplasia |
| 85179 | Infantile osteopetrosis with neuroaxonal dysplasia |
| 85182 | Diaphyseal medullary stenosis-bone malignancy syndrome |
| 85184 | Craniometadiaphyseal dysplasia, wormian bone type |
| 85186 | Endosteal sclerosis-cerebellar hypoplasia syndrome |
| 85188 | Metaphyseal dysplasia, Braun-Tinschert type |
| 85191 | Singleton-Merten dysplasia |
| 85192 | Calvarial doughnut lesions-bone fragility syndrome |
| 85193 | Idiopathic juvenile osteoporosis |
| 85194 | Spondylo-ocular syndrome |
| 85195 | Familial expansile osteolysis |
| 85197 | Genochondromatosis type 1 |
| 85198 | Dysspondyloenchondromatosis |
| 85199 | Craniosynostosis-anal anomalies-porokeratosis syndrome |
| 852 | X-linked thrombocytopenia with normal platelets |
| 85200 | Ischiovertebral syndrome |
| 85201 | Genitopatellar syndrome |
| 85202 | Keutel syndrome |
| 85203 | Acropectoral syndrome |
| 85212 | Fetal Gaucher disease |
| 85273 | X-linked intellectual disability, Abidi type |
| 85274 | Syndromic X-linked intellectual disability 7 |
| 85275 | Microphthalmia-ankyloblepharon-intellectual disability syndrome |
| 85276 | X-linked intellectual disability, Armfield type |
| 85277 | X-linked intellectual disability, Cantagrel type |
| 85278 | Christianson syndrome |
| 85279 | KDM5C-related syndromic X-linked intellectual disability |
| 85280 | X-linked intellectual disability-cubitus valgus-dysmorphism syndrome |
| 85282 | MEHMO syndrome |
| 85283 | X-linked intellectual disability, Miles-Carpenter type |
| 85284 | BRESEK syndrome |
| 85285 | X-linked intellectual disability, Schimke type |
| 85286 | X-linked intellectual disability, Shashi type |
| 85287 | X-linked intellectual disability, Siderius type |
| 85288 | X-linked intellectual disability, Stocco Dos Santos type |
| 85290 | X-linked intellectual disability, Wilson type |
| 85292 | X-linked spinocerebellar ataxia type 4 |
| 85293 | X-linked intellectual disability, Cabezas type |
| 85294 | X-linked epilepsy-learning disabilities-behavior disorders syndrome |
| 85295 | HSD10 disease, atypical type |
| 85297 | X-linked spinocerebellar ataxia type 3 |
| 853 | Fetal and neonatal alloimmune thrombocytopenia |
| 85317 | X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome |
| 85319 | X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome |
| 85320 | X-linked intellectual disability-macrocephaly-macroorchidism syndrome |
| 85321 | Deafness-intellectual disability syndrome, Martin-Probst type |
| 85322 | X-linked intellectual disability, Pai type |
| 85323 | X-linked intellectual disability, Seemanova type |
| 85324 | X-linked intellectual disability, Shrimpton type |
| 85325 | X-linked intellectual disability, Stevenson type |
| 85326 | X-linked intellectual disability, Stoll type |
| 85327 | X-linked intellectual disability-acromegaly-hyperactivity syndrome |
| 85329 | X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome |
| 85332 | X-linked intellectual disability-retinitis pigmentosa syndrome |
| 85334 | X-linked neurodegenerative syndrome, Bertini type |
| 85335 | Fried syndrome |
| 85336 | X-linked neurodegenerative syndrome, Hamel type |
| 85338 | X-linked intellectual disability-ataxia-apraxia syndrome |
| 854 | Primitive portal vein thrombosis |
| 85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis |
| 85410 | Oligoarticular juvenile idiopathic arthritis |
| 85414 | Systemic-onset juvenile idiopathic arthritis |
| 85435 | Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis |
| 85436 | Psoriasis-related juvenile idiopathic arthritis |
| 85438 | Enthesitis-related juvenile idiopathic arthritis |
| 85442 | Short stature-pituitary and cerebellar defects-small sella turcica syndrome |
| 85443 | AL amyloidosis |
| 85445 | AA amyloidosis |
| 85446 | Wild type ABeta2M amyloidosis |
| 85447 | ATTRV30M amyloidosis |
| 85448 | AGel amyloidosis |
| 85450 | Hereditary amyloidosis with primary renal involvement |
| 85451 | ATTRV122I amyloidosis |
| 85453 | X-linked reticulate pigmentary disorder |
| 85458 | Hereditary cerebral hemorrhage with amyloidosis |
| 857 | Townes-Brocks syndrome |
| 858 | Congenital toxoplasmosis |
| 859 | Transcobalamin deficiency |
| 86 | Familial abdominal aortic aneurysm |
| 860 | Congenitally uncorrected transposition of the great arteries |
| 861 | Treacher-Collins syndrome |
| 863 | Trichinellosis |
| 86309 | DPAGT1-CDG |
| 864 | Trichofolliculoma |
| 867 | Familial multiple trichoepithelioma |
| 86788 | X-linked severe congenital neutropenia |
| 86789 | Patella aplasia/hypoplasia |
| 86797 | Atypical lichen myxedematosus |
| 868 | Triose phosphate-isomerase deficiency |
| 86812 | POMT1-related limb-girdle muscular dystrophy R11 |
| 86813 | Helicoid peripapillary chorioretinal degeneration |
| 86814 | Benign adult familial myoclonic epilepsy |
| 86815 | Aplasia of lacrimal and salivary glands |
| 86816 | Congenital analbuminemia |
| 86817 | Hemolytic anemia due to adenylate kinase deficiency |
| 86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome |
| 86819 | Atrichia with papular lesions |
| 86820 | Familial avascular necrosis of femoral head |
| 86821 | Lissencephaly type 3-familial fetal akinesia sequence syndrome |
| 86822 | Lissencephaly type 3-metacarpal bone dysplasia syndrome |
| 86829 | Chronic neutrophilic leukemia |
| 86830 | Chronic myeloproliferative disease, unclassifiable |
| 86834 | Juvenile myelomonocytic leukemia |
| 86839 | Refractory anemia with excess blasts |
| 86841 | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality |
| 86843 | Acute panmyelosis with myelofibrosis |
| 86845 | Acute myeloid leukaemia with myelodysplasia-related features |
| 86849 | Acute basophilic leukemia |
| 86850 | Myeloid sarcoma |
| 86852 | B-cell prolymphocytic leukemia |
| 86854 | Splenic marginal zone lymphoma |
| 86855 | Plasmacytoma |
| 86861 | Non-amyloid monoclonal immunoglobulin deposition disease |
| 86864 | Heavy chain disease |
| 86867 | Nodal marginal zone B-cell lymphoma |
| 86869 | Lymphomatoid granulomatosis |
| 86870 | Blastic plasmacytoid dendritic cell neoplasm |
| 86871 | T-cell prolymphocytic leukemia |
| 86872 | T-cell large granular lymphocyte leukemia |
| 86873 | Aggressive NK-cell leukemia |
| 86875 | Adult T-cell leukemia/lymphoma |
| 86879 | Extranodal nasal NK/T cell lymphoma |
| 86880 | Enteropathy-associated T-cell lymphoma |
| 86882 | Hepatosplenic T-cell lymphoma |
| 86884 | Subcutaneous panniculitis-like T-cell lymphoma |
| 86885 | Primary cutaneous peripheral T-cell lymphoma not otherwise specified |
| 86886 | Angioimmunoblastic T-cell lymphoma |
| 86893 | Nodular lymphocyte predominant Hodgkin lymphoma |
| 86896 | Histiocytic sarcoma |
| 86897 | Langerhans cell sarcoma |
| 869 | Triple A syndrome |
| 86900 | Interdigitating dendritic cell sarcoma |
| 86902 | Follicular dendritic cell sarcoma |
| 86903 | Dendritic cell sarcoma not otherwise specified |
| 86904 | Methotrexate-associated lymphoproliferative disorders |
| 86906 | Hypothalamic hamartomas with gelastic seizures |
| 86908 | Idiopathic hemiconvulsion-hemiplegia syndrome |
| 86909 | Myoclonic epilepsy of infancy |
| 86911 | Epilepsy with myoclonic absences |
| 86913 | Myoclonic epilepsy in non-progressive encephalopathies |
| 86914 | Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome |
| 86915 | Lymphedema-atrial septal defects-facial changes syndrome |
| 86918 | Diffuse palmoplantar keratoderma-acrocyanosis syndrome |
| 86919 | Keratosis palmaris et plantaris-clinodactyly syndrome |
| 86920 | Dermatopathia pigmentosa reticularis |
| 86923 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type |
| 87 | Apert syndrome |
| 870 | Down syndrome |
| 871 | Familial progressive cardiac conduction defect |
| 873 | Desmoid tumor |
| 874 | Primary adult heart tumor |
| 875 | Primary pediatric heart tumor |
| 87503 | Mal de Meleda |
| 876 | Yolk sac tumor |
| 87876 | Sialidosis type 2 |
| 87884 | Non-syndromic genetic deafness |
| 879 | Tungiasis |
| 88 | Idiopathic aplastic anemia |
| 881 | Turner syndrome |
| 882 | Tyrosinemia type 1 |
| 883 | Extragonadal teratoma |
| 884 | Tetrasomy 12p |
| 886 | Usher syndrome |
| 88616 | Autosomal recessive non-syndromic intellectual disability |
| 88618 | S-adenosylhomocysteine hydrolase deficiency |
| 88619 | Familial acute necrotizing encephalopathy |
| 88620 | Isolated congenital anosmia |
| 88621 | Ichthyosis-prematurity syndrome |
| 88628 | Posterior column ataxia-retinitis pigmentosa syndrome |
| 88629 | Tritanopia |
| 88630 | Terminal osseous dysplasia-pigmentary defects syndrome |
| 88633 | Superior limbic keratoconjunctivitis |
| 88635 | Vacuolar myopathy with sarcoplasmic reticulum protein aggregates |
| 88637 | Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome |
| 88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency |
| 88642 | Congenital insensitivity to pain-anosmia-neuropathic arthropathy |
| 88643 | Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome |
| 88644 | Autosomal recessive ataxia, Beauce type |
| 88659 | Autosomal dominant progressive nephropathy with hypertension |
| 88660 | Hypertension due to gain-of-function mutations in the mineralocorticoid receptor |
| 88661 | Amelogenesis imperfecta |
| 887 | VACTERL/VATER association |
| 888 | Van der Woude syndrome |
| 889 | Cutaneous small vessel vasculitis |
| 88917 | X-linked Alport syndrome |
| 88918 | Autosomal dominant Alport syndrome |
| 88919 | Autosomal recessive Alport syndrome |
| 88924 | Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis |
| 88938 | Pseudohypoaldosteronism type 2A |
| 88939 | Pseudohypoaldosteronism type 2B |
| 88940 | Pseudohypoaldosteronism type 2C |
| 88949 | MUC1-related autosomal dominant tubulointerstitial kidney disease |
| 88950 | UMOD-related autosomal dominant tubulointerstitial kidney disease |
| 890 | Hepatic veno-occlusive disease |
| 891 | Familial exudative vitreoretinopathy |
| 892 | Von Hippel-Lindau disease |
| 893 | WAGR syndrome |
| 894 | Waardenburg syndrome type 1 |
| 895 | Waardenburg syndrome type 2 |
| 896 | Waardenburg syndrome type 3 |
| 897 | Waardenburg-Shah syndrome |
| 898 | Wagner disease |
| 89838 | Autosomal recessive generalized epidermolysis bullosa simplex |
| 89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form |
| 89843 | Dystrophic epidermolysis bullosa pruriginosa |
| 89844 | Lissencephaly syndrome, Norman-Roberts type |
| 899 | Walker-Warburg syndrome |
| 89936 | X-linked hypophosphatemia |
| 89937 | Autosomal dominant hypophosphatemic rickets |
| 89938 | Bartter syndrome type 4 |
| 9 | Tetrasomy X |
| 90 | Argininemia |
| 900 | Granulomatosis with polyangiitis |
| 90000 | Erythema elevatum diutinum |
| 90001 | X-linked cone dysfunction syndrome with myopia |
| 90002 | Undifferentiated connective tissue syndrome |
| 90003 | Inflammatory pseudotumor of the liver |
| 90020 | Parkinson-dementia complex of Guam |
| 90021 | Radiation myelitis |
| 90023 | Primary immunodeficiency syndrome due to LAMTOR2 deficiency |
| 90024 | Deafness with labyrinthine aplasia, microtia, and microdontia |
| 90026 | Primary erythromelalgia |
| 90030 | Hemolytic anemia due to glutathione reductase deficiency |
| 90031 | Non-spherocytic hemolytic anemia due to hexokinase deficiency |
| 90033 | Autoimmune hemolytic anemia, warm type |
| 90035 | Paroxysmal cold hemoglobinuria |
| 90036 | Mixed-type autoimmune hemolytic anemia |
| 90037 | Drug-induced autoimmune hemolytic anemia |
| 90038 | Shiga toxin-associated hemolytic uremic syndrome |
| 90039 | Hemoglobin D disease |
| 90041 | Gaisböck syndrome |
| 90042 | Primary familial polycythemia |
| 90044 | Familial pseudohyperkalemia |
| 90045 | Hereditary folate malabsorption |
| 90050 | Retinopathy of prematurity |
| 90051 | Sepsis in premature infants |
| 90052 | Recurrent hepatitis C virus induced liver disease in liver transplant recipients |
| 90053 | Complications after hematopoietic stem cell transplantation |
| 90056 | Moderate and severe traumatic brain injury |
| 90058 | Spinal cord injury |
| 90059 | Sudden sensorineural hearing loss |
| 90060 | Diffuse alveolar hemorrhage |
| 90062 | Acute liver failure |
| 90064 | Acute peripheral arterial occlusion |
| 90065 | Acquired aneurysmal subarachnoid hemorrhage |
| 90066 | Pneumonia caused by Pseudomonas aeruginosa infection |
| 90068 | Cocaine intoxication |
| 90069 | Systemic monochloroacetate poisoning |
| 90073 | Hepatitis B reinfection following liver transplantation |
| 90076 | Partial deep dermal and full thickness burns |
| 90078 | Invasive infections due to vancomycin-resistant enterococci |
| 90080 | Scarring in glaucoma filtration surgical procedures |
| 90081 | AIDS wasting syndrome |
| 901 | Wells syndrome |
| 90103 | Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome |
| 90117 | Hereditary motor and sensory neuropathy, Okinawa type |
| 90118 | Severe early-onset axonal neuropathy due to MFN2 deficiency |
| 90119 | Hereditary motor and sensory neuropathy with acrodystrophy |
| 90120 | Hereditary motor and sensory neuropathy type 6 |
| 90153 | Mandibuloacral dysplasia with type A lipodystrophy |
| 90154 | Mandibuloacral dysplasia with type B lipodystrophy |
| 90156 | Centrifugal lipodystrophy |
| 90157 | Drug-induced localized lipodystrophy |
| 90158 | Idiopathic localized lipodystrophy |
| 90159 | Panniculitis-induced localized lipodystrophy |
| 90160 | Pressure-induced localized lipoatrophy |
| 90186 | Meige disease |
| 902 | Werner syndrome |
| 90280 | Chilblain lupus |
| 90281 | Discoid lupus erythematosus |
| 90282 | Hypertrophic or verrucous lupus erythematosus |
| 90283 | Lupus erythematosus tumidus |
| 90285 | Lupus erythematosus panniculitis |
| 90289 | Localized scleroderma |
| 90291 | Systemic sclerosis |
| 903 | Von Willebrand disease |
| 90301 | Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome |
| 90307 | Parkes Weber syndrome |
| 90308 | Klippel-Trénaunay syndrome |
| 90321 | Cockayne syndrome type 1 |
| 90322 | Cockayne syndrome type 2 |
| 90324 | Cockayne syndrome type 3 |
| 90340 | Blau syndrome |
| 90342 | Xeroderma pigmentosum variant |
| 90348 | Autosomal dominant cutis laxa |
| 90349 | Autosomal recessive cutis laxa type 1 |
| 90354 | Brittle cornea syndrome |
| 90362 | Primary intestinal lymphangiectasia |
| 90363 | Secondary intestinal lymphangiectasia |
| 90368 | Hypotrichosis simplex of the scalp |
| 90389 | Telangiectasia macularis eruptiva perstans |
| 90390 | Anonychia-onychodystrophy syndrome |
| 90393 | Nodular lichen myxedematosus |
| 90394 | Discrete papular lichen myxedematosus |
| 90395 | Papular mucinosis of infancy |
| 90396 | Acral persistent papular mucinosis |
| 90397 | Self-healing papular mucinosis |
| 90398 | Localized lichen myxedematosus with mixed features of different subtypes |
| 90399 | Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms |
| 904 | Williams syndrome |
| 90400 | Scleromyxedema without monoclonal gammopathy |
| 905 | Wilson disease |
| 906 | Wiskott-Aldrich syndrome |
| 90625 | Rare X-linked non-syndromic sensorineural deafness type DFN |
| 90635 | Rare autosomal dominant non-syndromic sensorineural deafness type DFNA |
| 90636 | Rare autosomal recessive non-syndromic sensorineural deafness type DFNB |
| 90641 | Rare mitochondrial non-syndromic sensorineural deafness |
| 90646 | Deafness-hypogonadism syndrome |
| 90647 | Jervell and Lange-Nielsen syndrome |
| 90650 | Otopalatodigital syndrome type 1 |
| 90652 | Otopalatodigital syndrome type 2 |
| 90653 | Stickler syndrome type 1 |
| 90654 | Stickler syndrome type 2 |
| 90658 | Charcot-Marie-Tooth disease type 1E |
| 90673 | Hypothyroidism due to TSH receptor mutations |
| 90674 | Isolated thyroid-stimulating hormone deficiency |
| 90695 | Non-acquired panhypopituitarism |
| 90790 | Congenital lipoid adrenal hyperplasia due to STAR deficency |
| 90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency |
| 90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency |
| 90794 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
| 90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency |
| 90796 | 46,XY difference of sex development due to isolated 17,20-lyase deficiency |
| 90797 | Partial androgen insensitivity syndrome |
| 908 | Fragile X syndrome |
| 909 | Cerebrotendinous xanthomatosis |
| 91 | Aromatase deficiency |
| 910 | Xeroderma pigmentosum |
| 911 | Combined immunodeficiency due to ZAP70 deficiency |
| 91127 | Adenovirus infection in immunocompromised patients |
| 91130 | Cardiomyopathy-hypotonia-lactic acidosis syndrome |
| 91131 | DK1-CDG |
| 91132 | Ichthyosis-hypotrichosis syndrome |
| 91135 | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency |
| 91136 | Acquired monoclonal Ig light chain-associated Fanconi syndrome |
| 91138 | Cryoglobulinemic vasculitis |
| 91139 | Simple cryoglobulinemia |
| 91140 | Unspecified juvenile idiopathic arthritis |
| 912 | Zellweger syndrome |
| 913 | Zollinger-Ellison syndrome |
| 91347 | TSH-secreting pituitary adenoma |
| 91348 | Functioning gonadotropic adenoma |
| 91349 | Non-functioning pituitary adenoma |
| 91350 | Pituitary deficiency due to Rathke cleft cysts |
| 91351 | Pituitary dermoid and epidermoid cysts |
| 91352 | Germinoma of the central nervous system |
| 91354 | Pituitary deficiency due to empty sella turcica syndrome |
| 91355 | Sheehan syndrome |
| 91358 | Congenital esophageal diverticulum |
| 91359 | Chronic pneumonitis of infancy |
| 91364 | Non-specific interstitial pneumonia |
| 91387 | Familial thoracic aortic aneurysm and aortic dissection |
| 91396 | Isolated cryptophthalmia |
| 91397 | Isolated ankyloblepharon filiforme adnatum |
| 91411 | Congenital ptosis |
| 91412 | Marcus-Gunn syndrome |
| 91413 | Congenital Horner syndrome |
| 91414 | Pilomatrixoma |
| 91416 | Isolated congenital alacrima |
| 91481 | Ring dermoid of cornea |
| 91483 | Rieger anomaly |
| 91489 | Isolated congenital megalocornea |
| 91490 | Isolated congenital sclerocornea |
| 91491 | Congenital ectropion uveae |
| 91492 | Early-onset non-syndromic cataract |
| 91494 | Macular coloboma-cleft palate-hallux valgus syndrome |
| 91495 | Persistent hyperplastic primary vitreous |
| 91496 | Snowflake vitreoretinal degeneration |
| 91498 | Familial congenital palsy of trochlear nerve |
| 915 | Aarskog-Scott syndrome |
| 91500 | Tubulointerstitial nephritis and uveitis syndrome |
| 91546 | Lyme disease |
| 91547 | Relapsing fever |
| 916 | Aase-Smith syndrome |
| 920 | Ablepharon macrostomia syndrome |
| 92050 | Congenital tufting enteropathy |
| 921 | Abruzzo-Erickson syndrome |
| 922 | Familial nasal acilia |
| 926 | Acatalasemia |
| 927 | Hyperammonemia due to N-acetylglutamate synthase deficiency |
| 929 | Achalasia-microcephaly syndrome |
| 93 | Aspartylglucosaminuria |
| 930 | Idiopathic achalasia |
| 931 | Acheiropodia |
| 93100 | Renal agenesis, unilateral |
| 93101 | Renal hypoplasia |
| 93108 | Renal dysplasia |
| 93109 | Congenital megacalycosis |
| 93110 | Posterior urethral valve |
| 93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease |
| 93114 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E |
| 93126 | Pauci-immune glomerulonephritis |
| 93160 | Hypocalcemic vitamin D-resistant rickets |
| 93164 | Transient pseudohypoaldosteronism |
| 93172 | Renal dysplasia, unilateral |
| 93173 | Renal dysplasia, bilateral |
| 93176 | Unilateral congenital megacalycosis |
| 93177 | Congenital bilateral megacalycosis |
| 932 | Achondrogenesis |
| 93256 | Fragile X-associated tremor/ataxia syndrome |
| 93258 | Pfeiffer syndrome type 1 |
| 93259 | Pfeiffer syndrome type 2 |
| 93260 | Pfeiffer syndrome type 3 |
| 93262 | Crouzon syndrome-acanthosis nigricans syndrome |
| 93267 | Cloverleaf skull-multiple congenital anomalies syndrome |
| 93268 | Short rib-polydactyly syndrome, Beemer-Langer type |
| 93269 | Short rib-polydactyly syndrome, Majewski type |
| 93270 | Short rib-polydactyly syndrome, Saldino-Noonan type |
| 93271 | Short rib-polydactyly syndrome, Verma-Naumoff type |
| 93274 | Thanatophoric dysplasia type 2 |
| 93276 | Polyostotic fibrous dysplasia |
| 93277 | Monostotic fibrous dysplasia |
| 93279 | Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis |
| 93282 | Spondyloepimetaphyseal dysplasia, PAPSS2 type |
| 93283 | Spondyloepiphyseal dysplasia, Kimberley type |
| 93284 | Spondyloepiphyseal dysplasia tarda |
| 93292 | Adenoma of pancreas |
| 93293 | Okihiro syndrome |
| 93296 | Achondrogenesis type 2 |
| 93297 | Hypochondrogenesis |
| 93298 | Achondrogenesis type 1B |
| 93299 | Achondrogenesis type 1A |
| 93302 | Brachyolmia, Maroteaux type |
| 93304 | Autosomal dominant brachyolmia |
| 93307 | Multiple epiphyseal dysplasia type 4 |
| 93308 | Multiple epiphyseal dysplasia type 1 |
| 93311 | Multiple epiphyseal dysplasia type 5 |
| 93314 | Spondylometaphyseal dysplasia, Kozlowski type |
| 93315 | Spondylometaphyseal dysplasia, 'corner fracture' type |
| 93316 | Spondylometaphyseal dysplasia, Schmidt type |
| 93317 | Spondylometaphyseal dysplasia, Sedaghatian type |
| 93320 | Ulnar hemimelia |
| 93321 | Radial hemimelia |
| 93322 | Tibial hemimelia |
| 93323 | Fibular hemimelia |
| 93324 | Autosomal recessive Kenny-Caffey syndrome |
| 93325 | Autosomal dominant Kenny-Caffey syndrome |
| 93328 | Autosomal dominant omodysplasia |
| 93329 | Autosomal recessive omodysplasia |
| 93333 | Pelviscapular dysplasia |
| 93334 | Postaxial polydactyly type A |
| 93335 | Postaxial polydactyly type B |
| 93336 | Polydactyly of a triphalangeal thumb |
| 93337 | Polydactyly of an index finger |
| 93338 | Polysyndactyly |
| 93339 | Polydactyly of a biphalangeal thumb and/or hallux |
| 93346 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type |
| 93347 | Anauxetic dysplasia |
| 93349 | X-linked spondyloepimetaphyseal dysplasia |
| 93351 | Spondyloepimetaphyseal dysplasia, Irapa type |
| 93352 | Spondyloepimetaphyseal dysplasia, Shohat type |
| 93356 | Spondyloepimetaphyseal dysplasia, Missouri type |
| 93357 | SPONASTRIME dysplasia |
| 93358 | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| 93360 | Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type |
| 93372 | Familial hypocalciuric hypercalcemia type 1 |
| 93382 | Brachydactyly type A6 |
| 93383 | Brachydactyly type B |
| 93384 | Brachydactyly type C |
| 93387 | Brachydactyly type E |
| 93388 | Brachydactyly type A1 |
| 93394 | Brachydactyly type A4 |
| 93396 | Brachydactyly type A2 |
| 93397 | Brachydactyly type A7 |
| 93398 | Genochondromatosis type 2 |
| 93399 | Juvenile sialidosis type 2 |
| 93400 | Congenital sialidosis type 2 |
| 93402 | Syndactyly type 1 |
| 93403 | Syndactyly type 2 |
| 93404 | Syndactyly type 3 |
| 93405 | Syndactyly type 4 |
| 93406 | Syndactyly type 5 |
| 93409 | Brachydactyly-syndactyly, Zhao type |
| 93473 | Hurler syndrome |
| 93474 | Scheie syndrome |
| 93476 | Hurler-Scheie syndrome |
| 935 | Short-limb skeletal dysplasia with severe combined immunodeficiency |
| 93552 | Pediatric systemic lupus erythematosus |
| 93554 | Mixed cryoglobulinemia type II |
| 93555 | Mixed cryoglobulinemia type III |
| 93556 | Heavy chain deposition disease |
| 93557 | Light and heavy chain deposition disease |
| 93558 | Light chain deposition disease |
| 93560 | AApoAI amyloidosis |
| 93561 | ALys amyloidosis |
| 93562 | AFib amyloidosis |
| 93568 | Juvenile polymyositis |
| 93569 | Polymyalgia rheumatica |
| 93571 | Dense deposit disease |
| 93581 | Atypical hemolytic uremic syndrome with anti-factor H antibodies |
| 93583 | Congenital thrombotic thrombocytopenic purpura |
| 93585 | Immune-mediated thrombotic thrombocytopenic purpura |
| 93589 | Late-onset nephronophthisis |
| 93591 | Infantile nephronophthisis |
| 93592 | Juvenile nephronophthisis |
| 93598 | Primary hyperoxaluria type 1 |
| 93599 | Primary hyperoxaluria type 2 |
| 93600 | Primary hyperoxaluria type 3 |
| 93601 | Xanthinuria type I |
| 93602 | Xanthinuria type II |
| 93605 | Bartter syndrome type 3 |
| 93606 | Nephrogenic syndrome of inappropriate antidiuresis |
| 93607 | Autosomal recessive proximal renal tubular acidosis |
| 93608 | Autosomal dominant distal renal tubular acidosis |
| 93610 | Distal renal tubular acidosis with anemia |
| 93612 | Cystinuria type A |
| 93613 | Cystinuria type B |
| 93616 | Hemoglobin H disease |
| 93622 | Dent disease type 1 |
| 93623 | Dent disease type 2 |
| 93672 | Juvenile dermatomyositis |
| 93685 | Unicentric Castleman disease |
| 939 | 3-hydroxyisobutyric aciduria |
| 93921 | Full schwannomatosis |
| 93924 | Lobar holoprosencephaly |
| 93925 | Alobar holoprosencephaly |
| 93926 | Midline interhemispheric variant of holoprosencephaly |
| 93928 | Isolated epispadias |
| 93929 | Cloacal exstrophy |
| 93930 | Bladder exstrophy |
| 93932 | FG syndrome type 1 |
| 93938 | Laryngotracheoesophageal cleft type 1 |
| 93939 | Laryngotracheoesophageal cleft type 2 |
| 93940 | Laryngotracheoesophageal cleft type 3 |
| 93941 | Laryngotracheoesophageal cleft type 4 |
| 93945 | X-linked intellectual disability, Porteous type |
| 93946 | Hamel cerebro-palato-cardiac syndrome |
| 93947 | X-linked intellectual disability, Golabi-Ito-Hall type |
| 93950 | X-linked intellectual disability, Sutherland-Haan type |
| 93952 | X-linked intellectual disability, Hedera type |
| 93953 | Familial thyroglossal duct cyst |
| 93958 | Oromandibular dystonia |
| 93964 | Blepharospasm-oromandibular dystonia syndrome |
| 93969 | Open spinal dysraphism with a myelomeningocele |
| 93976 | Anotia |
| 94056 | Humero-ulnar synostosis |
| 94058 | Neovascular glaucoma |
| 94059 | Uremic pruritus |
| 94063 | 12q14 microdeletion syndrome |
| 94064 | Deafness-infertility syndrome |
| 94065 | 15q24 microdeletion syndrome |
| 94066 | Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia |
| 94068 | Spondyloepiphyseal dysplasia congenita |
| 94080 | Non-functioning paraganglioma |
| 94083 | Partington syndrome |
| 94086 | Blue diaper syndrome |
| 94087 | Cytophagic histiocytic panniculitis |
| 94088 | Hereditary renal hypouricemia |
| 94089 | Pseudohypoparathyroidism type 1B |
| 94090 | Pseudohypoparathyroidism type 2 |
| 94091 | Mills syndrome |
| 94093 | Neuroleptic malignant syndrome |
| 941 | D-glyceric aciduria |
| 94122 | Cerebellar ataxia, Cayman type |
| 94124 | Spinocerebellar ataxia with axonal neuropathy type 1 |
| 94125 | Recessive mitochondrial ataxia syndrome |
| 94147 | Spinocerebellar ataxia type 7 |
| 94150 | Anonychia congenita totalis |
| 943 | Malonic aciduria |
| 945 | Acalvaria |
| 949 | Acrocraniofacial dysostosis |
| 95 | Friedreich ataxia |
| 950 | Acrodysostosis |
| 95159 | Hepatoerythropoietic porphyria |
| 952 | Acrofacial dysostosis, Weyers type |
| 95232 | Lissencephaly due to LIS1 mutation |
| 95409 | Acute adrenal insufficiency |
| 95427 | Secondary short bowel syndrome |
| 95428 | COG8-CDG |
| 95429 | Angioma serpiginosum |
| 95430 | Congenital tracheomalacia |
| 95431 | Twin to twin transfusion syndrome |
| 95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome |
| 95434 | Autosomal recessive cerebellar ataxia-movement disorder syndrome |
| 95443 | Mesocardia |
| 95448 | Congenital aortic valve atresia |
| 95455 | Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum |
| 95457 | Tricuspid valve agenesis |
| 95459 | Congenital tricuspid stenosis |
| 95461 | Straddling or overriding tricuspid valve |
| 95462 | Accessory tricuspid valve tissue |
| 95465 | Cleft mitral valve |
| 95474 | Double-orifice mitral valve |
| 95486 | Premature closure of the arterial duct |
| 95491 | Congenital coronary artery aneurysm |
| 95494 | Combined pituitary hormone deficiencies, genetic forms |
| 95496 | Pituitary stalk interruption syndrome |
| 955 | Hajdu-Cheney syndrome |
| 95507 | Congenital anomaly of hepatic vein |
| 95512 | Adenohypophysitis |
| 95513 | Panhypophysitis |
| 95613 | Pituitary apoplexy |
| 95619 | Post-traumatic pituitary deficiency |
| 95626 | Acquired central diabetes insipidus |
| 95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| 957 | Acropectorovertebral dysplasia |
| 95700 | Familial adrenal hypoplasia with absent pituitary luteinizing hormone |
| 95702 | X-linked adrenal hypoplasia congenita |
| 95706 | Non-syndromic posterior hypospadias |
| 95707 | Idiopathic isolated micropenis |
| 95712 | Thyroid ectopia |
| 95713 | Athyreosis |
| 95715 | Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies |
| 95716 | Familial thyroid dyshormonogenesis |
| 95717 | Idiopathic congenital hypothyroidism |
| 95719 | Thyroid hemiagenesis |
| 95720 | Thyroid hypoplasia |
| 958 | Acro-renal-mandibular syndrome |
| 95854 | Levocardia |
| 959 | Acro-renal-ocular syndrome |
| 96 | Ataxia with vitamin E deficiency |
| 96055 | Tetrasomy 21 |
| 96059 | Mosaic trisomy 4 |
| 96060 | Mosaic trisomy 5 |
| 96061 | Mosaic trisomy 8 |
| 96063 | Mosaic trisomy 10 |
| 96068 | Mosaic trisomy 22 |
| 96069 | Distal duplication 1p36 |
| 96070 | Distal duplication 2p |
| 96071 | Distal duplication 3p |
| 96072 | 4p16.3 microduplication syndrome |
| 96074 | Distal duplication 7p |
| 96076 | Beckwith-Wiedemann syndrome due to 11p15 microduplication |
| 96078 | 16p13.3 microduplication syndrome |
| 96092 | 8p inverted duplication/deletion syndrome |
| 96094 | Distal duplication 2q |
| 96095 | 3q26 microduplication syndrome |
| 96096 | Distal duplication 4q |
| 96097 | Distal duplication 5q |
| 96098 | Distal duplication 6q |
| 96100 | Distal duplication 8q |
| 96101 | Distal duplication 9q |
| 96102 | Distal duplication 10q |
| 96103 | Distal duplication 11q |
| 96105 | Distal duplication 13q |
| 96106 | Distal duplication 16q |
| 96107 | Distal duplication 20q |
| 96109 | Distal duplication 22q |
| 96112 | Non-distal duplication 9q |
| 96121 | 7q11.23 microduplication syndrome |
| 96123 | Monosomy 22 |
| 96125 | Distal deletion 6p |
| 96126 | Distal deletion 7p |
| 96129 | Distal deletion 19p |
| 96145 | Distal deletion 4q |
| 96147 | Kleefstra syndrome due to 9q34 microdeletion |
| 96148 | Distal deletion 10q |
| 96149 | Distal deletion 12q |
| 96150 | Distal deletion 14q |
| 96160 | Non-distal deletion 12q |
| 96167 | Recombinant 8 syndrome |
| 96168 | Monosomy 13q34 |
| 96169 | Koolen-De Vries syndrome |
| 96170 | Emanuel syndrome |
| 96171 | Ring chromosome 2 syndrome |
| 96172 | Ring chromosome 3 syndrome |
| 96173 | Ring chromosome 9 syndrome |
| 96175 | Ring chromosome 11 syndrome |
| 96176 | Ring chromosome 13 syndrome |
| 96177 | Ring chromosome 15 syndrome |
| 96178 | Ring chromosome 16 syndrome |
| 96179 | Maternal uniparental disomy of chromosome 2 |
| 96180 | Maternal uniparental disomy of chromosome 4 |
| 96181 | Maternal uniparental disomy of chromosome 6 |
| 96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 |
| 96183 | Maternal uniparental disomy of chromosome 9 |
| 96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 |
| 96185 | Maternal uniparental disomy of chromosome 16 |
| 96186 | Maternal uniparental disomy of chromosome 20 |
| 96187 | Maternal uniparental disomy of chromosome 21 |
| 96188 | Maternal uniparental disomy of chromosome 22 |
| 96190 | Paternal uniparental disomy of chromosome 5 |
| 96191 | Paternal uniparental disomy of chromosome 6 |
| 96192 | Paternal uniparental disomy of chromosome 7 |
| 96193 | Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 |
| 96194 | Paternal uniparental disomy of chromosome 20 |
| 96195 | Paternal uniparental disomy of chromosome 21 |
| 96201 | X small rings |
| 96253 | Cushing disease |
| 96263 | 48,XXXY syndrome |
| 96264 | 49,XXXXY syndrome |
| 96265 | Leydig cell hypoplasia due to complete LH resistance |
| 96266 | Leydig cell hypoplasia due to partial LH resistance |
| 96269 | Isolated partial vaginal agenesis |
| 963 | Acromegaly |
| 96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 |
| 968 | Acromesomelic dysplasia, Hunter-Thompson type |
| 969 | Acromicric dysplasia |
| 97 | Familial paroxysmal ataxia |
| 970 | Hereditary sensory and autonomic neuropathy type 2 |
| 971 | Acrorenal syndrome |
| 972 | Hereditary continuous muscle fiber activity |
| 97214 | Eisenmenger syndrome |
| 97229 | Riboflavin transporter deficiency |
| 97230 | Solar urticaria |
| 97232 | Fingerprint body myopathy |
| 97234 | Glycogen storage disease due to phosphoglycerate mutase deficiency |
| 97238 | Rippling muscle disease |
| 97239 | Reducing body myopathy |
| 97240 | Zebra body myopathy |
| 97244 | Rigid spine syndrome |
| 97249 | Pontocerebellar hypoplasia type 3 |
| 97252 | Mega-cisterna magna |
| 97261 | GRFoma |
| 97278 | PPoma |
| 97279 | Insulinoma |
| 97280 | Glucagonoma |
| 97282 | VIPoma |
| 97283 | Somatostatinoma |
| 97285 | Thyroid lymphoma |
| 97286 | Carney-Stratakis syndrome |
| 97287 | Bronchial neuroendocrine tumor |
| 97289 | Thymic neuroendocrine tumor |
| 97290 | Familial papillary thyroid carcinoma with renal papillary neoplasia |
| 97292 | Cardiogenic shock |
| 97297 | Bohring-Opitz syndrome |
| 973 | Congenital absence/hypoplasia of fingers excluding thumb, unilateral |
| 97330 | Thoracic outlet syndrome |
| 97332 | Kienbock disease |
| 97335 | Osgood-Schlatter disease |
| 97336 | Panner disease |
| 97337 | Sinding-Larsen-Johansson disease |
| 97338 | Melanoma of soft tissue |
| 97339 | Dural sinus malformation |
| 97340 | Hunter-McAlpine syndrome |
| 97341 | Persistent placoid maculopathy |
| 97345 | ABri amyloidosis |
| 97346 | ADan amyloidosis |
| 97349 | Postencephalitic parkinsonism |
| 97352 | Pellagra |
| 97353 | Dementia pugilistica |
| 97355 | Caribbean parkinsonism |
| 97360 | Robinow syndrome |
| 97361 | Renal hypoplasia, unilateral |
| 97362 | Renal hypoplasia, bilateral |
| 97363 | Unilateral multicystic dysplastic kidney |
| 97364 | Bilateral multicystic dysplastic kidney |
| 97366 | Multiloculated renal cyst |
| 97367 | Renal tubular dysgenesis due to twin-twin transfusion |
| 97368 | Drug-related renal tubular dysgenesis |
| 97369 | Renal tubular dysgenesis of genetic origin |
| 974 | Adams-Oliver syndrome |
| 97548 | Right sided atrial isomerism |
| 97560 | Primary membranous glomerulonephritis |
| 97563 | Pauci-immune glomerulonephritis with ANCA |
| 97564 | Pauci-immune glomerulonephritis without ANCA |
| 97566 | Non-amyloid fibrillary glomerulopathy |
| 97567 | Immunotactoid glomerulopathy |
| 97598 | Congenital renal artery stenosis |
| 976 | Adenine phosphoribosyltransferase deficiency |
| 97678 | Maternal uniparental disomy of chromosome 13 |
| 97685 | 17q11 microdeletion syndrome |
| 977 | Adrenomyodystrophy |
| 978 | ADULT syndrome |
| 98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay |
| 980 | Absence of the pulmonary artery |
| 981 | Internal carotid absence |
| 98267 | Genetic non-syndromic obesity |
| 983 | Testicular regression syndrome |
| 984 | Pulmonary agenesis |
| 98434 | Hereditary combined deficiency of vitamin K-dependent clotting factors |
| 98606 | Syndromic orbital border hypoplasia |
| 98619 | Rare isolated myopia |
| 98673 | Autosomal dominant optic atrophy, classic form |
| 98676 | Autosomal recessive isolated optic atrophy |
| 98686 | Congenital trochlear nerve palsy |
| 98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 |
| 98755 | Spinocerebellar ataxia type 1 |
| 98756 | Spinocerebellar ataxia type 2 |
| 98757 | Spinocerebellar ataxia type 3 |
| 98758 | Spinocerebellar ataxia type 6 |
| 98759 | Spinocerebellar ataxia type 17 |
| 98760 | Spinocerebellar ataxia type 8 |
| 98761 | Spinocerebellar ataxia type 10 |
| 98762 | Spinocerebellar ataxia type 12 |
| 98763 | Spinocerebellar ataxia type 14 |
| 98764 | Spinocerebellar ataxia type 27 |
| 98765 | Spinocerebellar ataxia type 4 |
| 98766 | Spinocerebellar ataxia type 5 |
| 98767 | Spinocerebellar ataxia type 11 |
| 98768 | Spinocerebellar ataxia type 13 |
| 98769 | Spinocerebellar ataxia type 15/16 |
| 98771 | Spinocerebellar ataxia type 18 |
| 98772 | Spinocerebellar ataxia type 19/22 |
| 98773 | Spinocerebellar ataxia type 21 |
| 98784 | Autosomal dominant nocturnal frontal lobe epilepsy |
| 98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 |
| 98793 | Prader-Willi syndrome due to paternal 15q11q13 deletion |
| 98794 | Angelman syndrome due to maternal 15q11q13 deletion |
| 98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 |
| 98797 | Isochromosomy Yp |
| 98798 | Isochromosomy Yq |
| 988 | Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome |
| 98805 | Primary dystonia, DYT4 type |
| 98806 | Primary dystonia, DYT6 type |
| 98807 | Primary dystonia, DYT13 type |
| 98808 | Autosomal dominant dopa-responsive dystonia |
| 98809 | Paroxysmal kinesigenic dyskinesia |
| 98810 | Paroxysmal non-kinesigenic dyskinesia |
| 98811 | Paroxysmal exertion-induced dyskinesia |
| 98813 | Hypohidrotic ectodermal dysplasia with immunodeficiency |
| 98815 | Benign childhood occipital epilepsy, Panayiotopoulos type |
| 98816 | Benign childhood occipital epilepsy, Gastaut type |
| 98818 | Landau-Kleffner syndrome |
| 98819 | Familial temporal lobe epilepsy |
| 98820 | Familial focal epilepsy with variable foci |
| 98823 | Chronic myelomonocytic leukemia |
| 98824 | Atypical chronic myeloid leukemia |
| 98825 | Unclassified myelodysplastic/myeloproliferative disease |
| 98826 | Refractory anemia |
| 98827 | Unclassified myelodysplastic syndrome |
| 98829 | Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) |
| 98831 | Acute myeloid leukemia with 11q23 abnormalities |
| 98832 | Acute myeloid leukemia with minimal differentiation |
| 98833 | Acute myeloblastic leukemia without maturation |
| 98834 | Acute myeloblastic leukemia with maturation |
| 98835 | Acute undifferentiated leukemia |
| 98838 | Primary mediastinal large B-cell lymphoma |
| 98839 | Intravascular large B-cell lymphoma |
| 98841 | Anaplastic large cell lymphoma |
| 98842 | Lymphomatoid papulosis |
| 98843 | Classic Hodgkin lymphoma, nodular sclerosis type |
| 98844 | Classic Hodgkin lymphoma, mixed cellularity type |
| 98845 | Classic Hodgkin lymphoma, lymphocyte-rich type |
| 98846 | Classic Hodgkin lymphoma, lymphocyte-depleted type |
| 98848 | Indolent systemic mastocytosis |
| 98849 | Systemic mastocytosis with associated hematologic neoplasm |
| 98850 | Aggressive systemic mastocytosis |
| 98851 | Mast cell leukemia |
| 98852 | Desquamative interstitial pneumonia |
| 98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy |
| 98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy |
| 98856 | Charcot-Marie-Tooth disease type 2B1 |
| 98863 | X-linked Emery-Dreifuss muscular dystrophy |
| 98868 | Southeast Asian ovalocytosis |
| 98869 | Congenital dyserythropoietic anemia type I |
| 98870 | Congenital dyserythropoietic anemia type III |
| 98871 | Transient erythroblastopenia of childhood |
| 98872 | Primary acquired pure red cell aplasia |
| 98873 | Congenital dyserythropoietic anemia type II |
| 98878 | Hemophilia A |
| 98879 | Hemophilia B |
| 98880 | Familial afibrinogenemia |
| 98881 | Familial dysfibrinogenemia |
| 98885 | Bleeding diathesis due to glycoprotein VI deficiency |
| 98886 | Bleeding diathesis due to integrin alpha2-beta1 deficiency |
| 98889 | Bilateral perisylvian polymicrogyria |
| 98890 | Early-onset X-linked optic atrophy |
| 98892 | Periventricular nodular heterotopia |
| 98893 | Congenital muscular dystrophy type 1B |
| 98895 | Becker muscular dystrophy |
| 98896 | Duchenne muscular dystrophy |
| 98897 | Oculopharyngodistal myopathy |
| 989 | Hypoglossia-hypodactyly syndrome |
| 98902 | Amish nemaline myopathy |
| 98904 | Congenital myopathy with excess of thin filaments |
| 98905 | Congenital multicore myopathy with external ophthalmoplegia |
| 98907 | Neutral lipid storage disease with ichthyosis |
| 98908 | Neutral lipid storage myopathy |
| 98909 | Desminopathy |
| 98911 | Distal myotilinopathy |
| 98912 | Late-onset distal myopathy, Markesbery-Griggs type |
| 98913 | Postsynaptic congenital myasthenic syndromes |
| 98914 | Presynaptic congenital myasthenic syndromes |
| 98915 | Synaptic congenital myasthenic syndromes |
| 98916 | Acute inflammatory demyelinating polyradiculoneuropathy |
| 98917 | Acute motor and sensory axonal neuropathy |
| 98918 | Acute motor axonal neuropathy |
| 98919 | Miller Fisher syndrome |
| 98920 | Spinal muscular atrophy with respiratory distress type 1 |
| 98922 | Blake pouch cyst |
| 98933 | Multiple system atrophy, parkinsonian type |
| 98934 | Huntington disease-like 2 |
| 98938 | Colobomatous microphthalmia |
| 98942 | Coloboma of choroid and retina |
| 98943 | Coloboma of eye lens |
| 98944 | Coloboma of iris |
| 98945 | Coloboma of macula |
| 98946 | Coloboma of eyelid |
| 98947 | Coloboma of optic disc |
| 98948 | Congenital symblepharon |
| 98949 | Complete cryptophthalmia |
| 98950 | Partial cryptophthalmia |
| 98951 | Inverse Marcus-Gunn phenomenon |
| 98954 | Meesmann corneal dystrophy |
| 98955 | Lisch epithelial corneal dystrophy |
| 98956 | Epithelial basement membrane dystrophy |
| 98957 | Gelatinous drop-like corneal dystrophy |
| 98958 | Climatic droplet keratopathy |
| 98959 | Subepithelial mucinous corneal dystrophy |
| 98960 | Thiel-Behnke corneal dystrophy |
| 98961 | Reis-Bücklers corneal dystrophy |
| 98962 | Granular corneal dystrophy type I |
| 98963 | Granular corneal dystrophy type II |
| 98964 | Lattice corneal dystrophy type I |
| 98967 | Schnyder corneal dystrophy |
| 98969 | Macular corneal dystrophy |
| 98970 | Fleck corneal dystrophy |
| 98971 | Posterior amorphous corneal dystrophy |
| 98972 | Central cloudy dystrophy of François |
| 98973 | Posterior polymorphous corneal dystrophy |
| 98974 | Fuchs endothelial corneal dystrophy |
| 98975 | Congenital hereditary endothelial dystrophy type I |
| 98976 | Congenital glaucoma |
| 98977 | Juvenile glaucoma |
| 98978 | Axenfeld anomaly |
| 98979 | Chandler syndrome |
| 98980 | Cogan-Reese syndrome |
| 98981 | Essential iris atrophy |
| 98984 | Pulverulent cataract |
| 98985 | Early-onset sutural cataract |
| 98988 | Early-onset anterior polar cataract |
| 98989 | Cerulean cataract |
| 98990 | Coralliform cataract |
| 98991 | Early-onset nuclear cataract |
| 98992 | Early-onset partial cataract |
| 98993 | Early-onset posterior polar cataract |
| 98994 | Total early-onset cataract |
| 98995 | Early-onset zonular cataract |
| 990 | Agnathia-holoprosencephaly-situs inversus syndrome |
| 99000 | Adult-onset foveomacular vitelliform dystrophy |
| 99001 | Butterfly-shaped pigment dystrophy |
| 99002 | Reticular dystrophy of the retinal pigment epithelium |
| 99003 | Multifocal pattern dystrophy simulating fundus flavimaculatus |
| 99004 | Fundus pulverulentus |
| 99013 | Spastic paraplegia type 7 |
| 99014 | X-linked Charcot-Marie-Tooth disease type 5 |
| 99015 | Spastic paraplegia type 2 |
| 99027 | Adult-onset autosomal dominant leukodystrophy |
| 99042 | Congenitally uncorrected transposition of the great arteries with coarctation |
| 99043 | Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis |
| 99045 | Double outlet right ventricle with subpulmonary ventricular septal defect |
| 99046 | Double outlet right ventricle with non-committed subpulmonary ventricular septal defect |
| 99048 | Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome |
| 99049 | Pulmonary artery coming from patent ductus arteriosus |
| 99050 | Abnormal origin of right or left pulmonary artery from the aorta |
| 99051 | Discrete fixed membranous subaortic stenosis |
| 99052 | Discrete fibromuscular subaortic stenosis |
| 99053 | Tunnel subaortic stenosis |
| 99054 | Valvular pulmonary stenosis |
| 99055 | Congenital anomaly of the tricuspid valve chordae |
| 99056 | Parachute tricuspid valve |
| 99057 | Congenital mitral stenosis |
| 99058 | Hypoplasia of the mitral valve annulus |
| 99059 | Congenital supravalvular mitral ring |
| 99060 | Congenital unguarded mitral orifice |
| 99061 | Accessory mitral valve tissue |
| 99062 | Mitral valve agenesis |
| 99063 | Shone complex |
| 99064 | Straddling and/or overriding mitral valve |
| 99067 | Complete atrioventricular septal defect with ventricular hypoplasia |
| 99068 | Complete atrioventricular septal defect-tetralogy of Fallot |
| 99070 | Aorto-right ventricular tunnel |
| 99071 | Aorto-left ventricular tunnel |
| 99072 | Congenital patent ductus arteriosus aneurysm |
| 99075 | Encircling double aortic arch |
| 99076 | Persistent fifth aortic arch |
| 99077 | Kommerell diverticulum |
| 99078 | Neuhauser anomaly |
| 99079 | Cervical aortic arch |
| 99081 | Right aortic arch |
| 99082 | Dysphagia lusoria |
| 99083 | Pulmonary artery hypoplasia |
| 99084 | Peripheral pulmonary stenosis |
| 99087 | Coronary ostial stenosis or atresia |
| 99089 | Abnormal number of coronary ostia |
| 99090 | Malposition of a coronary ostium |
| 99092 | Interventricular septum aneurysm |
| 99094 | Laubry-Pezzi syndrome |
| 99095 | Congenital Gerbode defect |
| 99098 | Cor triatriatum dexter |
| 99099 | Cor triatriatum sinister |
| 991 | PAGOD syndrome |
| 99100 | Juxtaposition of the atrial appendages |
| 99101 | Ectasia of the right atrial appendage |
| 99102 | Ectasia of the left atrial appendage |
| 99103 | Atrial septal defect, ostium secundum type |
| 99104 | Atrial septal defect, coronary sinus type |
| 99105 | Atrial septal defect, sinus venosus type |
| 99106 | Atrial septal defect, ostium primum type |
| 99107 | Atrial septal aneurysm |
| 99109 | Persistent left superior vena cava connecting through coronary sinus to left-sided atrium |
| 99110 | Right superior vena cava connecting to left-sided atrium |
| 99111 | Persistent left superior vena cava connecting to the roof of left-sided atrium |
| 99112 | Absence of innominate vein |
| 99113 | Subaortic course of innominate vein |
| 99114 | Agenesis of the superior vena cava |
| 99117 | Coronary sinus stenosis |
| 99118 | Coronary sinus atresia |
| 99119 | Right inferior vena cava connecting to left-sided atrium |
| 99120 | Persistent eustachian valve |
| 99121 | Azygos continuation of the inferior vena cava |
| 99122 | Congenital stenosis of the inferior vena cava |
| 99123 | Inferior vena cava interruption without azygos continuation |
| 99124 | Congenital partial pulmonary venous return anomaly |
| 99125 | Congenital total pulmonary venous return anomaly |
| 99126 | Congenital pulmonary vein atresia |
| 99129 | Congenital complete agenesis of pericardium |
| 99130 | Congenital partial agenesis of pericardium |
| 99131 | Pleuro-pericardial cyst |
| 99135 | 6-phosphogluconate dehydrogenase deficiency |
| 99138 | Hemolytic anemia due to erythrocyte adenosine deaminase overproduction |
| 99139 | Unstable hemoglobin disease |
| 99141 | Lymphedema-posterior choanal atresia syndrome |
| 99147 | Acquired von Willebrand syndrome |
| 99169 | Epiblepharon |
| 99170 | Tarsal kink syndrome |
| 99171 | Isolated congenital ectropion |
| 99172 | Euryblepharon |
| 99176 | Congenital eyelid retraction |
| 99177 | Isolated distichiasis |
| 99179 | Kandori fleck retina |
| 99226 | Monosomy X |
| 99228 | Mosaic monosomy X |
| 99324 | Paternal uniparental disomy of chromosome 13 |
| 99329 | 48,XYYY syndrome |
| 99330 | 49,XYYYY syndrome |
| 99361 | Familial medullary thyroid carcinoma |
| 994 | Fetal akinesia deformation sequence |
| 99413 | Turner syndrome due to structural X chromosome anomalies |
| 99429 | Complete androgen insensitivity syndrome |
| 99642 | Spondyloepimetaphyseal dysplasia, Handigodu type |
| 99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria |
| 99647 | Cheirospondyloenchondromatosis |
| 99657 | Primary dystonia, DYT2 type |
| 99672 | Fried's tooth and nail syndrome |
| 99688 | Dermotrichic syndrome |
| 99701 | Mesial temporal lobe epilepsy with hippocampal sclerosis |
| 99704 | Early-onset obesity-hyperphagia-severe developmental delay syndrome |
| 99710 | Punctate acrokeratoderma freckle-like pigmentation |
| 99718 | Leber plus disease |
| 99725 | Pituitary gigantism |
| 99731 | Isolated sulfite oxidase deficiency |
| 99732 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency |
| 99734 | Myotonia fluctuans |
| 99735 | Myotonia permanens |
| 99736 | Acetazolamide-responsive myotonia |
| 99741 | King-Denborough syndrome |
| 99742 | Amish lethal microcephaly |
| 99745 | Typhoid |
| 99748 | Pontiac fever |
| 99749 | Kostmann syndrome |
| 99750 | Atypical progressive supranuclear palsy syndrome |
| 99756 | Alveolar rhabdomyosarcoma |
| 99757 | Embryonal rhabdomyosarcoma |
| 99771 | Bifid uvula |
| 99772 | Cleft velum |
| 99776 | Mosaic trisomy 9 |
| 99789 | Dentin dysplasia type I |
| 99791 | Dentin dysplasia type II |
| 99792 | Dentin dysplasia-sclerotic bones syndrome |
| 99796 | Subcortical band heterotopia |
| 99797 | Anodontia |
| 99798 | Oligodontia |
| 998 | Albinism-deafness syndrome |
| 99802 | Hemimegalencephaly |
| 99803 | Haddad syndrome |
| 99806 | Oculootodental syndrome |
| 99807 | PEHO-like syndrome |
| 99810 | Familial porencephaly |
| 99811 | Neuronal intestinal pseudoobstruction |
| 99812 | LIG4 syndrome |
| 99818 | Turcot syndrome with polyposis |
| 99819 | Familial gestational hyperthyroidism |
| 99824 | Lassa fever |
| 99825 | Nipah virus disease |
| 99826 | Marburg hemorrhagic fever |
| 99827 | Crimean-Congo hemorrhagic fever |
| 99828 | Dengue fever |
| 99829 | Yellow fever |
| 99832 | Resistance to thyrotropin-releasing hormone syndrome |
| 99842 | Leukocyte adhesion deficiency type I |
| 99843 | Leukocyte adhesion deficiency type II |
| 99844 | Leukocyte adhesion deficiency type III |
| 99845 | Genetic recurrent myoglobinuria |
| 99846 | Autosomal dominant myoglobinuria |
| 99849 | Glycogen storage disease due to muscle beta-enolase deficiency |
| 99852 | Ravine syndrome |
| 99853 | Ovarioleukodystrophy |
| 99854 | Cree leukoencephalopathy |
| 99856 | Primary syringomyelia |
| 99857 | Secondary syringomyelia |
| 99858 | Idiopathic syringomyelia |
| 99860 | Precursor B-cell acute lymphoblastic leukemia |
| 99861 | Precursor T-cell acute lymphoblastic leukemia |
| 99865 | Spermatocytic seminoma |
| 99867 | Thymoma |
| 99868 | Thymic carcinoma |
| 99869 | Thymic neuroendocrine carcinoma |
| 99879 | Familial isolated hyperparathyroidism |
| 99880 | Hyperparathyroidism-jaw tumor syndrome |
| 99885 | Isolated permanent neonatal diabetes mellitus |
| 99886 | Transient neonatal diabetes mellitus |
| 99887 | Acute megakaryoblastic leukemia in Down syndrome |
| 99889 | Cushing syndrome due to ectopic ACTH secretion |
| 99898 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency |
| 999 | Ermine phenotype |
| 99901 | Acyl-CoA dehydrogenase 9 deficiency |
| 99903 | Spirillary rat-bite fever |
| 99905 | Streptobacillary rat-bite fever |
| 99906 | Farmer's lung disease |
| 99907 | House allergic alveolitis |
| 99908 | Pigeon-breeder lung disease |
| 99912 | Malignant dysgerminomatous germ cell tumor of the ovary |
| 99914 | Gynandroblastoma |
| 99915 | Maligant granulosa cell tumor of the ovary |
| 99916 | Malignant Sertoli-Leydig cell tumor of the ovary |
| 99917 | Theca steroid-producing cell malignant tumor of ovary, not further specified |
| 99918 | Streptococcal toxic-shock syndrome |
| 99919 | Staphylococcal toxic-shock syndrome |
| 99920 | Acute graft versus host disease |
| 99921 | Chronic graft versus host disease |
| 99922 | Ocular cicatricial pemphigoid |
| 99925 | Invasive mole |
| 99926 | Gestational choriocarcinoma |
| 99927 | Hydatidiform mole |
| 99928 | Placental site trophoblastic tumor |
| 99930 | Secondary pulmonary hemosiderosis |
| 99931 | Idiopathic pulmonary hemosiderosis |
| 99932 | Heiner syndrome |
| 99933 | Pleuropulmonary blastoma type 1 |
| 99934 | Pleuropulmonary blastoma type 2 |
| 99935 | Pleuropulmonary blastoma type 3 |
| 99936 | Autosomal dominant Charcot-Marie-Tooth disease type 2B |
| 99937 | Autosomal dominant Charcot-Marie-Tooth disease type 2C |
| 99938 | Autosomal dominant Charcot-Marie-Tooth disease type 2D |
| 99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E |
| 99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F |
| 99941 | Autosomal dominant Charcot-Marie-Tooth disease type 2G |
| 99942 | Autosomal dominant Charcot-Marie-Tooth disease type 2I |
| 99943 | Autosomal dominant Charcot-Marie-Tooth disease type 2J |
| 99944 | Autosomal dominant Charcot-Marie-Tooth disease type 2K |
| 99945 | Autosomal dominant Charcot-Marie-Tooth disease type 2L |
| 99946 | Autosomal dominant Charcot-Marie-Tooth disease type 2A1 |
| 99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 |
| 99948 | Charcot-Marie-Tooth disease type 4A |
| 99949 | Charcot-Marie-Tooth disease type 4C |
| 99950 | Charcot-Marie-Tooth disease type 4D |
| 99951 | Charcot-Marie-Tooth disease type 4E |
| 99952 | Charcot-Marie-Tooth disease type 4F |
| 99953 | Charcot-Marie-Tooth disease type 4G |
| 99954 | Charcot-Marie-Tooth disease type 4H |
| 99955 | Charcot-Marie-Tooth disease type 4B1 |
| 99956 | Charcot-Marie-Tooth disease type 4B2 |
| 99960 | Benign recurrent intrahepatic cholestasis type 1 |
| 99961 | Benign recurrent intrahepatic cholestasis type 2 |
| 99965 | O'Sullivan-McLeod syndrome |
| 99966 | Atypical teratoid rhabdoid tumor |
| 99967 | Myxoid/round cell liposarcoma |
| 99969 | Pleomorphic liposarcoma |
| 99970 | Dedifferentiated liposarcoma |
| 99971 | Well-differentiated liposarcoma |
| 99976 | Adenocarcinoma of the esophagus |
| 99977 | Squamous cell carcinoma of the esophagus |
| 99978 | Klatskin tumor |
| 99981 | Apnea of prematurity |
| 99989 | Intermediate DEND syndrome |
| 99990 | Brill-Zinsser disease |
| 99991 | Relapsing epidemic typhus |
| 99994 | Complex regional pain syndrome type 2 |
| 99995 | Complex regional pain syndrome type 1 |
No Expansion for this valueset (Unknown Code System )
Explanation of the columns that may appear on this page:
| Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
| System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
| Code | The code (used as the code in the resource instance) |
| Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
| Definition | An explanation of the meaning of the concept |
| Comments | Additional notes about how to use the code |