eHDSI Rare Disease - MyHealthEu MVC package v9.1.0

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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

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