MyHealthEu MVC package
9.1.0 - ci-build

MyHealthEu MVC package - Local Development build (v9.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

## ValueSet: eHDSI Rare Disease

Official URL: http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease | Version: 9.1.0
Active as of 2026-02-19 | Computable Name: EHDSIRareDisease
Other Identifiers: OID:1.3.6.1.4.1.12559.11.10.1.3.1.42.63
Copyright/Legal: This Value Set includes a subset of the Orphanet Nomenclature Pack for codification which is released each year in July (https://www.orphadata.com/pack-nomenclature/). Countries that wish to translate the subset provided in this file should first check if an existing translation is available on Orphadata (either as part of the nomenclature pack or as one of the languages of the nomenclature alignment files) so as to not duplicate efforts. Translations into languages not already distributed by Orphanet should be validated by a medical doctor/committee to ensure their accuracy and the Orphanet Coordinating team should be notified (partnerships.orphanet@inserm.fr). Any modifications/updates a user wishes to make to an existing translation distributed by Orphanet should contact the Orphanet Coordinating Team (partnerships.orphanet@inserm.fr)

The Value Set is used to describe the problems and medication reasons.

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

### Logical Definition (CLD)

- Include these codes as defined in `https://www.orpha.net` version Not Stated (use latest from terminology server)

  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 | Myelodysplastic neoplasm with increased blasts type 1
  100020 | Myelodysplastic neoplasm with increased 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 | Isolated esophageal duplication cyst
  100048 | Isolated 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 syndrome
  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 | 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
  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
  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 syndrome
  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
  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 dysplasia
  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
  1239 | Behr syndrome
  124 | Diamond-Blackfan anemia
  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
  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 | Hereditary 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 | Isolated 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
  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 | 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 | Airway infantile hemangioma
  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 | Epilepsy with eyelid myoclonia
  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 | Self-limited neonatal-infantile epilepsy
  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 | Isolated lower lip fistula
  141067 | Cervicofacial fibrochondroma
  141071 | Isolated 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
  141189 | Cerebrofacial arteriovenous metameric syndrome
  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
  141333 | Biemond syndrome type 2
  1414 | Cholestasis-lymphedema syndrome
  1415 | Hardikar 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 | Autosomal recessive 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
  1456 | Middle aortic syndrome
  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
  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
  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 | Isolated 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
  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
  158048 | Hemophagocytic syndrome associated with an infection
  158057 | Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
  158061 | Macrophage activation syndrome
  1581 | Non-distal deletion 10q syndrome
  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 syndrome
  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 syndrome
  1596 | Distal deletion 15q syndrome
  1597 | Distal deletion 17q syndrome
  1598 | Monosomy 18p syndrome
  16 | Blue cone monochromatism
  160 | Castleman disease
  1600 | Monosomy 18q syndrome
  160148 | Cap polyposis
  1606 | 1p36 deletion syndrome
  1617 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
  162 | Congenital cataract-anterior segment dysgenesis syndrome
  1620 | Distal deletion 3p syndrome
  1621 | 3q13 microdeletion syndrome
  162516 | Isolated congenital nasal pyriform aperture stenosis
  162526 | Isolated congenital auditory ossicle malformation
  1627 | Deletion 5q35 syndrome
  163 | Hereditary hyperferritinemia-cataract syndrome
  163525 | Subacute cutaneous lupus erythematosus
  163596 | Hb Bart's hydrops fetalis
  1636 | Distal monosomy 7q36 syndrome
  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 | 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 syndrome
  1643 | Xp22.3 microdeletion syndrome
  1646 | Chromosome Y microdeletion syndrome
  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
  1659 | Dermatoleukodystrophy
  165955 | Wound myiasis
  165958 | Cavitary myiasis
  165991 | Exercise-induced hyperinsulinism
  1660 | Dermoodontodysplasia
  166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly
  166016 | Multiple epiphyseal dysplasia, Lowry type
  166024 | Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
  166029 | Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
  166032 | Multiple epiphyseal dysplasia-miniepiphyses syndrome
  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 | Birk-Barel syndrome
  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 | Hereditary sick sinus syndrome
  166286 | Porokeratotic eccrine ostial and dermal duct nevus
  166291 | Dirofilariasis
  166308 | Benign infantile focal epilepsy with midline spikes and waves during sleep
  166409 | Photosensitive occipital lobe 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 | Epilepsy with reading-induced 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
  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 inclusion cyst
  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 infections 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 syndrome
  169464 | Primary CD59 deficiency
  169467 | Recurrent Neisseria infections due to factor D deficiency
  1695 | Non-distal duplication 10q syndrome
  169793 | Severe hemophilia B
  169796 | Moderate hemophilia B
  169799 | Mild hemophilia B
  1698 | Mosaic trisomy 12 syndrome
  169802 | Severe hemophilia A
  169805 | Moderate hemophilia A
  169808 | Mild hemophilia A
  1699 | Trisomy 12p syndrome
  17 | Fatal infantile lactic acidosis with methylmalonic aciduria
  170 | Woolly hair
  1702 | Non-distal duplication 13q syndrome
  1703 | Mosaic trisomy 14 syndrome
  1705 | Distal duplication 14q syndrome
  1706 | Mosaic trisomy 15 syndrome
  1707 | Distal duplication 15q syndrome
  1708 | Mosaic trisomy 16 syndrome
  171 | Primary sclerosing cholangitis
  1711 | Mosaic trisomy 17 syndrome
  171220 | Isolated 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 syndrome
  1716 | Distal duplication 18q syndrome
  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 syndrome
  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 syndrome
  172 | Progressive familial intrahepatic cholestasis
  1723 | Mosaic trisomy 2 syndrome
  1724 | Mosaic trisomy 20 syndrome
  1727 | 22q11.2 duplication syndrome
  173 | Cholera
  1738 | Trisomy 4p syndrome
  174 | Metaphyseal chondrodysplasia, Schmid type
  1742 | Trisomy 5p syndrome
  1745 | Distal duplication 6p syndrome
  1747 | Mosaic trisomy 7 syndrome
  175 | Cartilage-hair hypoplasia
  1752 | Trisomy 8q syndrome
  1756 | Caudal duplication
  1757 | Fibular dimelia-diplopodia syndrome
  1759 | Thoraco-abdominal enteric duplication
  1762 | Proximal Xq28 duplication syndrome
  1764 | Familial dysautonomia
  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 | Arginine vasopressin deficiency
  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
  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
  1797 | Autosomal dominant spondylocostal dysostosis
  1798 | Craniofacial dysostosis-diaphyseal hyperplasia syndrome
  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
  181428 | Familial Hyperalphalipoproteinemia
  1816 | Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
  1818 | Ectodermal dysplasia, trichoodontoonychial type
  182 | Chromomycosis
  182050 | MYH9-related syndromic thrombocytopenia
  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 | 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 | Metaphyseal chondrodysplasia, Rosenberg type
  183707 | Infantile LAD-like disease due to RAC2 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 developmental and epileptic encephalopathy
  1937 | Eng-Strom syndrome
  1941 | Juvenile absence epilepsy
  1942 | Epilepsy with myoclonic-atonic seizures
  1943 | Early-onset progressive encephalopathy with migrant continuous myoclonus
  1945 | Self-limited epilepsy with centrotemporal spikes
  1946 | Amelocerebrohypohidrotic syndrome
  1947 | Northern epilepsy
  1948 | Epilepsy-microcephaly-skeletal dysplasia syndrome
  1949 | Self-limited 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 | Isolated 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 syndrome
  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
  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 | Polyneuropathy associated with IgM 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 | MECP2-related severe neonatal encephalopathy
  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
  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 | Multifocal infantile hemangioma with extracutenous involvement
  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 | Cutaneous mastocytosis-deafness-microtia 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 nail 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 syndrome
  217566 | Chronic respiratory distress with surfactant metabolism deficiency
  2176 | Infantile systemic hyalinosis
  217622 | Sensorineural deafness with dilated cardiomyopathy
  217656 | Inherited isolated arrhythmogenic cardiomyopathy
  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
  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 syndrome
  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 | Arginine vasopressin resistance
  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
  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
  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
  228343 | CLN4 disease
  228346 | CLN3 disease
  228349 | CLN2 disease
  228354 | CLN8 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 | Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
  228415 | 5q35 microduplication syndrome
  228423 | GATA2 deficiency spectrum
  228426 | Syndromic multisystem autoimmune disease due to Itch deficiency
  228429 | Congenital generalized lipodystrophy type 4
  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 | Non-syndromic agammaglobulinemia
  2298 | Insulin-resistance syndrome type B
  2299 | Aortic arch interruption
  23 | Argininosuccinic aciduria
  230 | Dopamine beta-hydroxylase deficiency
  2300 | Isolated 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
  231205 | Common variable immunodeficiency without known genetic defect
  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 due to STAT3 deficiency
  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 phenomenon
  2331 | Kawasaki disease
  2332 | KBG syndrome
  2333 | Kenny-Caffey syndrome
  2334 | Autosomal dominant keratitis
  2337 | Diffuse palmoplantar keratoderma, Bothnian type
  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 syndrome
  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 | Isolated 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
  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-predominant 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 | Isolated 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 polyposis
  2478 | Megalencephalic leukoencephalopathy with subcortical cysts
  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, type Fryns
  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 syndrome
  251009 | Maternal uniparental disomy of chromosome 1 syndrome
  251014 | 2q31.1 microdeletion syndrome
  251019 | 2q32q33 deletion syndrome
  251028 | SATB2-associated syndrome due to a chromosomal rearrangement
  251038 | 3q29 microduplication syndrome
  251043 | Ring chromosome 5 syndrome
  251046 | 6p22 microdeletion syndrome
  251056 | 6q25.2q25.3 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 S-C disease
  251370 | Sickle cell S-D Punjab disease
  251375 | Sickle cell S-E disease
  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
  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 differentiation
  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 | Self-limited childhood 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 syndrome
  261120 | 14q11.2 microdeletion syndrome
  261144 | FOXG1 syndrome due to 14q12 microdeletion
  261183 | 15q11.2 microdeletion syndrome
  261190 | Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
  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 syndrome
  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 syndrome
  261323 | 21q22.11q22.12 microdeletion syndrome
  261330 | Distal 22q11.2 microdeletion syndrome
  261337 | Distal 22q11.2 microduplication syndrome
  261344 | Trisomy 1q syndrome
  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 syndrome
  261524 | Paternal uniparental disomy of chromosome X syndrome
  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 | 5q22 microdeletion syndrome
  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 | Spondyloepimetaphyseal 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 syndrome
  2645 | Osteoglosphonic dysplasia
  264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency
  264675 | Hereditary pulmonary alveolar proteinosis
  264688 | Congenital chylothorax
  264691 | Isolated pulmonary capillaritis
  264978 | Drug or radiation exposure-related interstitial lung disease
  2655 | Thanatophoric dysplasia
  2658 | Lenz-Majewski hyperostotic dwarfism
  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
  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 | Urofacial 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
  271861 | Hereditary ATTR amyloidosis
  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
  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
  2753 | Orofaciodigital syndrome type 4
  2754 | Orofaciodigital syndrome type 6
  2755 | Orofaciodigital syndrome type 8
  275517 | Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
  275523 | Dianzani autoimmune lymphoproliferative disease
  275543 | L1 syndrome
  275555 | Preeclampsia
  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
  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 syndrome
  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
  280914 | Isolated idiopathic anterior uveitis
  280917 | Idiopathic posterior uveitis
  280921 | Idiopathic panuveitis
  281 | Monosomy 5p syndrome
  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 | Hailey-Hailey disease
  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
  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 disease
  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 microdeletion syndrome
  289522 | Microtriplication 11q24.1 syndrome
  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
  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 | Epilepsy of infancy with migrating focal seizures
  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 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
  293899 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
  293910 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
  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 | Isolated amelia of upper limb
  294969 | Isolated amelia of lower limb
  294971 | Isolated tetra-amelia
  294973 | Isolated humeral agenesis/hypoplasia
  294975 | Isolated absence of upper arm and forearm with hand present
  294977 | Isolated absence of thigh and lower leg with foot present
  294979 | Isolated absence of both forearm and hand
  294981 | Isolated absence of both lower leg and foot
  294983 | Isolated acheiria
  294986 | Isolated apodia
  294988 | Isolated hypoplasia of thumb
  295 | Fetal parvovirus syndrome
  295000 | Amniotic band syndrome
  295002 | Isolated 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 | Isolated 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
  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 syndrome
  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 | Autosomal dominant 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
  3006 | Pyridoxine-dependent-developmental and epileptic encephalopathy
  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 | Inherited 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 | Self-limited infantile epilepsy
  3063 | X-linked intellectual disability, Snyder type
  306431 | Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
  306498 | PTEN hamartoma tumor syndrome
  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 | Hereditary sodium channelopathy-related small fibers 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, infantile form
  309185 | Tay-Sachs disease, juvenile form
  309192 | Tay-Sachs disease, adult form
  3092 | Fixed subaortic stenosis
  30924 | Primary hypomagnesemia with secondary hypocalcemia
  309246 | GM2 gangliosidosis, AB variant
  30925 | Hereditary arginine vasopressin deficiency
  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 | Adult-onset 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 | Arginine vasopressin resistance-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 syndrome
  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 | CLN12 disease
  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
  31740 | Hypersensitivity pneumonitis
  317425 | Severe combined immunodeficiency due to DNA-PKcs deficiency
  317428 | Combined immunodeficiency due to ORAI1 deficiency
  317430 | Combined immunodeficiency due to STIM1 deficiency
  317473 | Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
  317476 | XMEN
  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
  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
  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
  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 | Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
  3241 | Deafness-craniofacial syndrome
  3242 | Renpenning syndrome
  324262 | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
  324290 | PRDM8-related progressive myoclonus epilepsy
  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 | Isolated 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 | Isolated humero-radial synostosis
  3266 | Isolated humero-radio-ulnar synostosis
  3268 | Radioulnar synostosis-microcephaly-scoliosis syndrome
  3269 | Isolated radio-ulnar 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 | Schuurs-Hoeijmakers 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
  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 in children 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 syndrome
  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 syndrome
  3306 | Inverted duplicated chromosome 15 syndrome
  33067 | Metaphyseal chondrodysplasia, Jansen type
  33069 | Dravet syndrome
  3307 | Tetrasomy 18p syndrome
  3309 | Tetrasomy 5p syndrome
  331 | Congenital factor XIII deficiency
  3310 | Tetrasomy 9p syndrome
  33108 | Lethal multiple pterygium syndrome
  33110 | Autosomal non-syndromic agammaglobulinemia
  33111 | Granulomatous slack skin
  331176 | 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 | Classic 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 | Oculoectodermal syndrome
  334 | Hereditary 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 syndrome
  3376 | Triploidy syndrome
  3377 | Trismus-pseudocamptodactyly syndrome
  3378 | Trisomy 13 syndrome
  3379 | Distal duplication 17q syndrome
  3380 | Trisomy 18 syndrome
  3383 | Humerus trochlea aplasia
  3384 | Common arterial trunk
  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
  34145 | Immunoglobulin A nephropathy
  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
  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 | Wieacker-Wolff syndrome
  3455 | Wiedemann-Rautenstrauch syndrome
  3456 | Wildervanck syndrome
  34587 | Danon disease
  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
  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 | 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 | Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
  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 syndrome
  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
  36383 | COL4A1/2-related familial vascular leukoencephalopathy
  36386 | Hereditary sensory and autonomic neuropathy type 1
  36387 | Genetic epilepsy with febrile seizure 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 | FOXP1 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 | STAT1-related 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 | Homocystinuria due to cystathionine beta-synthase deficiency
  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
  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
  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 | Combined immunodeficiency due to IKBKB 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 | Schaaf-Yang 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 | HNRNPA1-related adult-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 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
  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 | Intellectual disability-peripheral spasticity-exudative vitreoretinopathy 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 | Deficiency of adenosine deaminase 2
  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 | 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-arginine vasopressin deficiency
  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 | Pancreatic solid pseudopapillary neoplasm
  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 | HIDEA 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 | Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
  436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
  436252 | Combined immunodeficiency-multiple intestinal atresia
  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 developmental and 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 due to TPP2 deficiency
  444490 | Familial chylomicronemia syndrome
  445018 | Combined immunodeficiency due to LRBA deficiency
  445038 | 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
  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 | Combined immunodeficiency due to DOCK2 deficiency
  447740 | Aggressive 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 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
  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
  454831 | Acute radiation syndrome
  454836 | Avian influenza
  454840 | NTHL1-related 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 | KAT6-related 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 | Papillary 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 | Isolated Joubert syndrome
  476084 | BVES-related limb-girdle muscular dystrophy
  476093 | Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
  476096 | Erythrokeratodermia-cardiomyopathy syndrome
  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 | 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 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 | Phelan-McDermid syndrome
  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 | Takenouchi-Kosaki 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 encephalopathy-severe hypotonia-craniofacial dysmorphism 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 neuritis
  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 | SIN3-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
  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 | Weiss-Kruszka 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 | Donohue syndrome
  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
  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 | Congenital 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
  521268 | Sodium-dependent multivitamin transporter deficiency
  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 | Cerebrofacial arteriovenous metameric syndrome type 2
  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 SAP 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 | 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 | 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
  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
  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 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
  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 nerve entrapment syndrome
  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 perineal fistula
  600961 | Non-syndromic rectourethral fistula
  600966 | Non-syndromic rectourethral fistula, bulbar type
  600975 | Non-syndromic rectourethral fistula, prostatic type
  600984 | Non-syndromic rectovesical fistula
  600993 | Non-syndromic vestibular fistula
  600998 | Non-syndromic cloacal malformation
  601002 | Non-syndromic anorectal malformation without fistula
  601008 | Non-syndromic anal stenosis
  601013 | Non-syndromic pouch colon
  601018 | Non-syndromic rectal atresia
  601023 | Non-syndromic rectal stenosis
  601028 | Non-syndromic rectovaginal fistula
  601033 | Non-syndromic 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 muscular dystrophy
  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 | NOCARH syndrome
  619367 | SAMD9L-associated autoinflammatory syndrome
  619941 | Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
  619948 | Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
  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/giant 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 | Isolated 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
  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 due to ZNF341 deficiency
  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 | EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
  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
  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 developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
  64686 | Tolosa-Hunt syndrome
  64692 | Bartonella bacilliformis infection
  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 | Keratitis 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
  652487 | Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
  652514 | Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
  652519 | Cleft palate-congenital heart defect-intellectual disability syndrome
  652522 | Periodic fever-immunodeficiency-thrombocytopenia syndrome
  652528 | Non-syndromic supernumerary kidneys
  652532 | Adult-onset progressive leukoencephalopathy-early-onset deafness
  652650 | Nodal T-follicular helper cell lymphoma, follicular type
  652658 | Monomorphic epitheliotropic intestinal T-cell lymphoma
  652668 | Primary superior vena cava aneurysm
  652678 | Primary inferior vena cava aneurysm
  652681 | Idiopathic subglottic stenosis
  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
  653698 | Lymphocytic mastitis
  653709 | Cone rod dystrophy-short stature syndrome
  653712 | CHD4-related neurodevelopmental disorder
  653722 | Digenic Alport syndrome
  653725 | Autosomal recessive limb-girdle muscular dystrophy, type 28
  653728 | Congenital insensitivity to pain syndrome, Marsili type
  653751 | X-linked combined immunodeficiency due to SASH3 deficiency
  653767 | Jansen-de Vries syndrome
  653880 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
  654 | Nephroblastoma
  655 | Nephronophthisis
  656 | Hereditary steroid-resistant nephrotic syndrome
  656071 | Atrophic papulosis
  656085 | Benign atrophic papulosis
  656126 | Segmental spinal dysgenesis
  656130 | PBX1-related congenital anomalies of kidney-urinary tract syndrome
  656135 | Intellectual disability-cupped ears syndrome
  656279 | 1p36.33 duplication syndrome
  656283 | Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
  656300 | Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
  656313 | Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
  656326 | Autosomal recessive combined immunodeficiency due to IL6R deficiency
  656417 | Embryonal tumor with multilayered rosettes
  65681 | Vaginal atresia
  65682 | Benign recurrent intrahepatic cholestasis
  65683 | Isolated focal cortical dysplasia
  65684 | Monomelic amyotrophy
  656912 | Autosomal dominant combined immunodeficiency due to ERBIN deficiency
  65720 | Arthrogryposis-severe scoliosis syndrome
  65743 | Autosomal dominant multiple pterygium syndrome
  65748 | Multiple self-healing squamous epithelioma
  65759 | Carpenter syndrome
  658540 | 16q22 deletion syndrome
  658549 | Idiopathic small fibers neuropathy
  658574 | Isolated pulmonary artery sling
  658584 | Rowell syndrome
  658590 | Eyelid sebaceous carcinoma
  658595 | DNMT3A-related microcephalic dwarfism
  658602 | Transplant-related bronchiolitis obliterans
  658612 | Non-transplant-related bronchiolitis obliterans
  658778 | COQ7-related distal hereditary motor neuropathy
  658805 | Greig cephalopolysyndactyly-contiguous gene syndrome
  658810 | Atrophoderma of Pasini and Pierini
  658813 | Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
  658843 | Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
  658909 | Fasciolopsiasis
  658913 | Paragonimiasis
  658917 | Clonorchiasis
  658946 | Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
  658951 | Early-onset immune dysregulation due to DOCK11 complete deficiency
  659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques
  659396 | Cohen-Gibson syndrome
  659463 | Imagawa-Matsumoto syndrome
  659609 | Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
  659626 | Single isolated optic neuritis
  659634 | Relapsing isolated optic neuritis
  659642 | Rauch-Steindl syndrome
  659672 | Harderoporphyria
  659702 | Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
  659707 | Yersinia pseudotuberculosis infection
  659744 | Ocular surface squamous neoplasia
  659756 | Oroya fever
  659759 | Verruga peruana
  659873 | Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
  659904 | Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
  659908 | Glanders
  659975 | Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
  660 | Omphalocele
  660012 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
  660017 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
  660021 | Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
  660053 | Psittacosis
  661 | Congenital central hypoventilation syndrome
  661412 | Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
  661526 | MBD4-related tumor predisposition syndrome
  662 | Lymphedema with yellow nails
  662169 | Phelan-McDermid syndrome due to 22q13.3 deletion
  662172 | Phelan-McDermid syndrome due to SHANK3 mutation
  662175 | Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
  662179 | Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
  662184 | Congenital muscular dystrophy-cataract-intellectual disability syndrome
  662189 | Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
  662198 | Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
  662207 | Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
  662216 | Mucopolysaccharidosis type 10
  662229 | Episodic memory defect leukoencephalopathy
  662234 | Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome
  662240 | Frey syndrome
  662255 | Grisel syndrome
  662367 | NESCAV syndrome
  662376 | Isolated gastric duplication
  662388 | Isolated gallbladder duplication
  662392 | Isolated colonic duplication
  662405 | Isolated pyloric duplication
  662456 | Isolated small intestine duplication
  662473 | Isolated duodenal duplication
  662480 | Isolated jejuno-ileal duplication
  662721 | Placenta accreta spectrum disorder
  662762 | Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
  662786 | Vasa previa
  662829 | Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
  662934 | Acute megakaryoblastic leukemia in adult
  663 | Mitochondrial DNA-related progressive external ophthalmoplegia
  664 | Ornithine transcarbamylase deficiency
  664372 | Soft and hard cleft palate
  664377 | MGP-related spondyloepiphyseal dysplasia
  664401 | Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
  664404 | 6q25.1 microdeletion syndrome
  664410 | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
  664416 | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
  664430 | Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome
  664438 | Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
  664500 | Hermansky-Pudlak syndrome due to AP3B1 deficiency
  664511 | Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
  664699 | EBV-induced lymphoproliferative disease due to RASGRP1 deficiency
  664711 | EBV-induced lymphoproliferative disease due to PRKCD deficiency
  664726 | EBV-induced lymphoproliferative disease due to CD137 deficiency
  664729 | EBV-induced lymphoproliferative disease due to TET2 deficiency
  664787 | Nicolau syndrome
  664901 | Trigeminal trophic syndrome
  664912 | Neonatal renal venous thrombosis
  664923 | Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
  665044 | Common arterial trunk with aortic dominance
  665058 | Common arterial trunk with pulmonary dominance and interrupted aortic arch
  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
  667589 | Isolated congenital femoral bifurcation
  667662 | Breast implant-associated anaplastic large cell lymphoma
  667678 | Intraoral basal cell carcinoma
  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
  672979 | Craniosynostosis-facial dysmorphism-brachydactyly syndrome
  672985 | Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
  673 | Malaria
  673525 | Intravascular papillary endothelial hyperplasia
  673538 | Littoral cell hemangioma of the spleen
  673543 | Papillary hemangioma
  673556 | Pseudomyogenic hemangioendothelioma
  673568 | Eccrine angiomatous hamartoma
  673574 | Reactive angioendotheliomatosis
  673580 | Classic pilocytic astrocytoma
  673585 | Pilocytic astrocytoma with histological features of anaplasia
  674 | Accessory pancreas
  674653 | Actinomyopathy-associated syndromic thrombocytopenia
  674762 | Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
  674924 | Isolated retinal racemose hemangioma
  674930 | Perifoveal exudative vascular anomalous complex
  674935 | Torpedo Maculopathy
  674943 | Isolated angioid streaks
  674947 | Diffuse unilateral subacute neuroretinitis
  674953 | Multiple evanescent white dot syndrome
  674958 | Stellate multiform amelanotic choroidopathy
  674965 | Choroidal osteoma
  674968 | Bilateral diffuse uveal melanocytic proliferation disease
  675 | Annular pancreas
  675216 | Spinocerebellar ataxia type 27B
  675359 | Anastomosing haemangioma
  675362 | Hobnail hemangioma
  675369 | Microvenular haemangioma
  675380 | Isolated segmental infantile hemangioma
  675396 | Epithelioid hemangioma
  675404 | May-Thurner syndrome
  675597 | Acquired elastotic haemangioma
  675628 | TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
  675767 | Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency
  675775 | Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
  675782 | Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
  675814 | Adenomatoid tumour of the pleura
  675822 | Well-differentiated papillary mesothelial tumour of the pleura
  675833 | Localized pleural mesothelioma
  675837 | Diffused pleural mesothelioma
  675841 | Pleural mesothelioma in situ
  675976 | Adenomatoid tumour of the peritoneum
  676 | Autosomal dominant hereditary chronic pancreatitis
  676033 | Well-differentiated papillary mesothelial tumour of the peritoneum
  676036 | Peritoneal mesothelioma in situ
  676039 | Combined immunodeficiency due to FOXN1 haploinsufficiency
  676125 | X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
  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
  684216 | Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome
  684226 | Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome
  684232 | Intellectual disability-épilepsy-dental anomalies-facial dysmorphism syndrome
  684240 | Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome
  684247 | Isolated growth hormone deficiency type IV
  684290 | Hypertrophic olivary degeneration
  684305 | Neurooculocardiogenitourinary syndrome
  684742 | 2q13 microdeletion syndrome
  684752 | Isolated anal canal duplication
  685004 | Primary pericardial mesothelioma
  685010 | Mesothelioma of the tunica vaginalis
  685017 | Combined immunodeficiency due to TBX1 deficiency
  685067 | Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome
  685082 | Pediatric acute respiratory distress syndrome
  686462 | Non-fibrotic hypersensitivity pneumonitis
  686465 | Fibrotic hypersensitivity pneumonitis
  686468 | Post 5-alpha-reductase inhibitors treatment syndrome
  686475 | Post-selective serotonin reuptake inhibitor sexual dysfunction
  686482 | BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome
  686488 | RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome
  686495 | MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome
  686556 | Isolated congenital cholesteatoma of the middle ear
  686999 | Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
  687424 | ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion
  687695 | 10p13-p14 deletion syndrome
  687730 | Unifocal Langerhans cell histiocytosis
  687733 | Pulmonary Langerhans cell histiocytosis
  687738 | Single-system multifocal Langerhans cell histiocytosis
  687741 | Multisystem Langerhans cell histiocytosis
  688523 | Splenic venous malformation
  688543 | Reticular dysgenesis-like severe combined immunodeficiency
  688581 | Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
  688594 | Combined immunodeficiency due to RELB deficiency
  688642 | Turnpenny-Fry syndrome
  688649 | Isolated adrenal medullary hyperplasia
  688995 | Scarlet fever
  689001 | Isolated spontaneous cervical artery dissection
  689021 | Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome
  689231 | IFIH1-related hereditary spastic paraplegia
  689234 | RNASEH2B-related hereditary spastic paraplegia
  689397 | Poirier-Bienvenu neurodevelopmental syndrome
  689401 | Acquired hypothalamic obesity
  689408 | Shashi-Pena syndrome
  689422 | Okur-Chung neurodevelopmental syndrome
  689430 | Adenoid ameloblastoma
  689822 | Structural heart defects-renal anomalies syndrome
  689829 | Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome
  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 | Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
  69125 | Anonychia with flexural pigmentation
  69126 | PAPA syndrome
  692173 | Marbach-Schaaf neurodevelopmental syndrome
  692193 | CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome
  692256 | Isolated anogenital granulomatosis
  692271 | Cerebral proliferative angiopathy
  692296 | Idiopathic triglyceride deposit cardiomyovasculopathy
  692305 | Triglyceride deposit cardiomyovasculopathy
  692790 | ATP6AP1-CDG
  692812 | RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome
  693549 | Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome
  693627 | Agammaglobulinemia-skin involvement-failure to thrive syndrome
  693647 | Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome
  693661 | Activated PI3K-delta syndrome 1
  693681 | Activated PI3K-delta syndrome 2
  693815 | Uterine arteriovenous malformation
  693826 | Pancreatic arteriovenous malformation
  693832 | Gastrointestinal tract arteriovenous malformation
  693839 | Renal arteriovenous malformation
  693846 | Hepatic arteriovenous malformation
  693863 | Splenic arteriovenous malformation
  693869 | Gallblader arteriovenous malformation
  693872 | Urinary tract arteriovenous malformation
  693907 | RASA1-related capillary malformation-arteriovenous malformation
  693912 | EPHB4-related capillary malformation-arteriovenous malformation
  694228 | Congenital intrahepatic arterioportal fistula
  694304 | ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome
  694308 | ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation
  694356 | ADAR-related hereditary spastic paraplegia
  694922 | Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome
  694937 | Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency
  694946 | Alazami-Yuan syndrome
  694956 | Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome
  694963 | Inflammatory breast cancer
  695020 | Urachal carcinoma
  695023 | Pure squamous carcinoma of the urothelial tract
  695032 | Giant omphalocele
  695038 | Small omphalocele
  695110 | MAN2B2-CDG
  695131 | Acinar cystic transformation of the pancreas
  695136 | Infant-type hemispheric glioma
  695140 | Sickle cell-beta zero-thalassemia
  695147 | Sickle cell-beta plus-thalassemia
  695172 | Combined immunodeficiency due to dimerization defective IKAROS mutation
  695183 | Late-onset combined immunodeficiency due to ICOS deficiency
  695191 | Late-onset combined immunodeficiency due to ICOSL deficiency
  695611 | 3q26q28 deletion syndrome
  695631 | Primary vitreoretinal large B-cell lymphoma
  695783 | EDEM3-CDG
  695807 | Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome
  696063 | PLIN4-related distal myopathy
  696078 | Central Giant Cell Granuloma
  696175 | Encapsulating peritoneal sclerosis
  696189 | Congenital generalized lipodystrophy type 1
  696206 | Congenital generalized lipodystrophy type 3
  696242 | PPARG-associated congenital generalized lipodystrophy
  696289 | Congenital generalized lipodystrophy type 2
  69663 | Low phospholipid-associated cholelithiasis
  69665 | Intrahepatic cholestasis of pregnancy
  696830 | Female adnexal tumor of probable Wolffian origin
  696857 | Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations
  696863 | Common variable immunodeficiency phenotype due to somatic mutations
  696874 | NFKB1-related immune dysregulation
  696881 | Common variable immunodeficiency phenotype due to CD19/CD81 deficiency
  696894 | Common variable immunodeficiency phenotype due to CD21 deficiency
  696897 | Congenital megaprepuce
  696904 | Common variable immunodeficiency phenotype due to IRF2BP2 deficiency
  696907 | Common variable immunodeficiency phenotype due to homozygous TACI deficiency
  696925 | Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency
  696931 | Common variable immunodeficiency phenotype due to TWEAK deficiency
  696942 | Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency
  696945 | X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency
  697053 | Talaromycosis
  697067 | Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome
  697091 | Emergomycosis
  697096 | Cryptosporidiosis
  697101 | Fontaine progeroid syndrome
  697132 | Lymphoepithelial cyst of the pancreas
  697160 | Infantile epileptic spasms syndrome
  69723 | Tyrosinemia type 3
  69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
  697356 | Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome
  69736 | Bilateral acute depigmentation of the iris
  69737 | Bosley-Salih-Alorainy syndrome
  697385 | Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency
  697389 | Combined immunodeficiency due to HELIOS deficiency
  69739 | Athabaskan brainstem dysgenesis syndrome
  697394 | Combined immunodeficiency due to c-REL deficiency
  697403 | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency
  697414 | Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation
  697417 | Common variable immunodeficiency phenotype due to SEC61A1 deficiency
  69744 | Circumscribed palmoplantar hypokeratosis
  69745 | Warty dyskeratoma
  697734 | ST3GAL3-CDG
  697760 | Intellectual disability-nasal speech-craniofacial dysmorphism syndrome
  697764 | Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation
  697986 | Congenital peritoneal encapsulation
  698005 | Epilepsy with generalized tonic-clonic seizures alone
  698012 | Fibromuscular dysplasia
  698036 | Fibromuscular dysplasia of the cervical and intracranial arteries
  698043 | Fibromuscular dysplasia of the renal arteries
  698059 | Fibromuscular dysplasia of the coronary arteries
  698063 | Fibromuscular dysplasia of the visceral arteries
  698069 | Fibromuscular dysplasia of the arteries of the extremities
  698085 | Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome
  698090 | Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome
  698260 | Carotid web
  698945 | Autoimmune heparin-induced thrombocytopenia
  699 | Pearson syndrome
  699021 | Spontaneous heparin-induced thrombocytopenia
  699029 | Vaccine-induced immune thrombotic thrombocytopenia
  699057 | Annular erythema of infancy
  699068 | Fontan-associated liver disease
  699578 | Combined immunodeficiency with low Ig due to BCL10 deficiency
  699590 | Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency
  699593 | Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency
  699596 | Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency
  699599 | ICHAD syndrome
  699605 | NEMO deleted exon 5 autoinflammatory syndrome
  699615 | Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency
  699618 | Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency
  699678 | Necrotizing cellulitis
  699683 | Fibro-adipose vascular anomaly
  699697 | Necrotizing fasciitis
  699702 | Necrotizing myositis
  699708 | CLN14 disease
  699718 | Infantile CLN1 disease
  699734 | Late infantile CLN1 disease
  699739 | Juvenile CLN1 disease
  699745 | Adult CLN1 disease
  699751 | Infantile CLN2 disease
  699761 | Late infantile CLN2 disease
  699769 | Juvenile CLN2 disease
  699780 | Juvenile CLN3 disease
  699796 | Protracted juvenile CLN3 disease
  699802 | Late infantile CLN5 disease
  699807 | Juvenile CLN5 disease
  699812 | Adult CLN5 disease
  699822 | Sickle cell S-Lepore disease
  699835 | Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome
  699844 | Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome
  699850 | 2p25.3 microduplication syndrome
  7 | 3C syndrome
  70 | Proximal spinal muscular atrophy
  700 | Alopecia totalis
  700085 | Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant
  700090 | Sickle cell S-O Arab disease
  700107 | Sickle cell S-other specified hemoglobin variant
  700111 | Homozygous hemoglobin O Arab disease
  700124 | Autosomal recessive hereditary chronic pancreatitis
  700133 | Idiopathic chronic pancreatitis
  700136 | Early-onset idiopathic chronic pancreatitis
  700139 | Late-onset idiopathic chronic pancreatitis
  700154 | TARDBP-related predominantly upper-limb distal myopathy
  700160 | ADNP-related blepharophimosis-intellectual disability syndrome
  700163 | SMPX-related distal myopathy
  700170 | Asymetric thumb-handgrip weakness-distal myopathy
  700188 | Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy
  700205 | Combined immunodeficiency due to IKBKB gain-of-function mutation
  700286 | Congenital high airway obstruction syndrome
  700325 | NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome
  700333 | Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency
  700336 | Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency
  700467 | Late infantile CLN6 disease
  700472 | Juvenile CLN6 disease
  700477 | Adult CLN6 disease
  700484 | Late infantile CLN8 disease
  700487 | Congenital CLN10 disease
  700492 | Late infantile CLN10 disease
  700497 | Juvenile CLN10 disease
  700508 | Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy
  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
  70588 | Meconium aspiration syndrome
  70589 | Bronchopulmonary dysplasia
  70590 | Infantile apnea
  70591 | Chronic thromboembolic pulmonary hypertension
  70592 | Transient predisposition to invasive pyogenic bacterial infection
  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 sequence
  72 | Angelman syndrome
  720 | Pili bifurcati
  721 | Gray platelet syndrome
  722 | Hypoplasminogenemia
  723 | Pneumocystosis
  724 | Idiopathic acute eosinophilic pneumonia
  725 | Developmental and epileptic encephalopathy with spike-wave activation in 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 | Familial isolated retinal arteriolar 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 | Ullrich congenital muscular dystrophy
  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 syndrome
  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 | Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
  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
  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 | Variegate porphyria
  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
  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
  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
  845 | Tay-Sachs disease
  846 | Alpha-thalassemia
  847 | X-linked alpha-thalassemia-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
  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 | Non-malignant and non-cirrhotic 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 | Cerebral Amyloid Angiopathy
  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 | Isolated 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 | Familial adult 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 | Myelodysplastic neoplasm with increased 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 | Gelastic seizures with hypothalamic hamartoma
  86908 | Hemiconvulsion-hemiplegia-epilepsy 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
  87 | Apert syndrome
  870 | Down syndrome
  871 | Hereditary 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 | Pallister-Killian syndrome
  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 syndrome
  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 P14/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 | Capillary-lymphatic-venous malformation with segmental distribution
  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 | Isolated 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 | Isolated ulnar hemimelia
  93321 | Isolated radial hemimelia
  93322 | Isolated tibial hemimelia
  93323 | Isolated 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
  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 | Classic 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 | Isolated 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 arginine vasopressin deficiency
  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 syndrome
  96059 | Mosaic trisomy 4 syndrome
  96060 | Mosaic trisomy 5 syndrome
  96061 | Mosaic trisomy 8 syndrome
  96063 | Mosaic trisomy 10 syndrome
  96068 | Mosaic trisomy 22 syndrome
  96069 | Distal duplication 1p36 syndrome
  96070 | Distal duplication 2p syndrome
  96071 | Distal duplication 3p syndrome
  96072 | 4p16.3 microduplication syndrome
  96074 | Distal duplication 7p syndrome
  96076 | Beckwith-Wiedemann syndrome due to 11p15 microduplication
  96078 | 16p13.3 microduplication syndrome
  96092 | 8p inverted duplication/deletion syndrome
  96094 | Distal duplication 2q syndrome
  96095 | 3q26 microduplication syndrome
  96096 | Distal duplication 4q syndrome
  96097 | Distal duplication 5q syndrome
  96098 | Distal duplication 6q syndrome
  96100 | Distal duplication 8q syndrome
  96101 | Distal duplication 9q syndrome
  96102 | Distal duplication 10q syndrome
  96103 | Distal duplication 11q syndrome
  96105 | Distal duplication 13q syndrome
  96106 | Distal duplication 16q syndrome
  96107 | Distal duplication 20q syndrome
  96109 | Distal duplication 22q syndrome
  96112 | Non-distal duplication 9q syndrome
  96121 | 7q11.23 microduplication syndrome
  96123 | Monosomy 22 syndrome
  96125 | Distal deletion 6p syndrome
  96126 | Distal deletion 7p syndrome
  96129 | Distal deletion 19p syndrome
  96145 | Distal deletion 4q syndrome
  96147 | Kleefstra syndrome due to 9q34 microdeletion
  96148 | Distal deletion 10q syndrome
  96149 | Distal deletion 12q syndrome
  96150 | Distal deletion 14q syndrome
  96160 | Non-distal deletion 12q syndrome
  96167 | Recombinant 8 syndrome
  96168 | Monosomy 13q34 syndrome
  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 syndrome
  96180 | Maternal uniparental disomy of chromosome 4 syndrome
  96181 | Maternal uniparental disomy of chromosome 6 syndrome
  96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
  96183 | Maternal uniparental disomy of chromosome 9 syndrome
  96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14
  96185 | Maternal uniparental disomy of chromosome 16 syndrome
  96186 | Maternal uniparental disomy of chromosome 20 syndrome
  96187 | Maternal uniparental disomy of chromosome 21 syndrome
  96188 | Maternal uniparental disomy of chromosome 22 syndrome
  96190 | Paternal uniparental disomy of chromosome 5 syndrome
  96191 | Paternal uniparental disomy of chromosome 6 syndrome
  96192 | Paternal uniparental disomy of chromosome 7 syndrome
  96193 | Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
  96194 | Paternal uniparental disomy of chromosome 20 syndrome
  96195 | Paternal uniparental disomy of chromosome 21 syndrome
  96201 | X small rings syndrome
  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 | Isolated 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 syndrome
  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 27A
  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 | Sleep-related hypermotor 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 syndrome
  98798 | Isochromosomy Yq syndrome
  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 | Self-limited epilepsy with autonomic seizures
  98816 | Childhood occipital visual epilepsy
  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 | Myelodysplastic neoplasm with low blasts
  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 disease with 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
  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 syndrome
  99228 | Mosaic monosomy X syndrome
  99324 | Paternal uniparental disomy of chromosome 13 syndrome
  99329 | 48,XYYY syndrome
  99330 | 49,XYYYY syndrome
  99361 | Isolated 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
  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 syndrome
  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
  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 children with 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
  99912 | Ovarian dysgerminoma
  99914 | Gynandroblastoma
  99915 | Malignant 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
  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 oesophagus and oesophagogastric junction
  99977 | Squamous cell carcinoma of the esophagus
  99978 | Perihilar cholangiocarcinoma
  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

### Expansion

No Expansion for this valueset (not supported by Publication Tooling)

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