H00001	B-cell acute lymphoblastic leukemia; B-cell acute lymphocytic leukemia
H00002	T-cell acute lymphoblastic leukemia; T-cell acute lymphocytic leukemia
H00003	Acute myeloid leukemia
H00004	Chronic myeloid leukemia
H00005	Chronic lymphocytic leukemia
H00006	Hairy cell leukemia
H00007	Hodgkin lymphoma
H00008	Burkitt lymphoma
H00009	Adult T-cell leukemia
H00010	Multiple myeloma
H00011	Lymphoplasmacytic lymphoma
H00012	Polycythemia vera
H00013	Small cell lung cancer
H00014	Non-small cell lung cancer
H00015	Malignant pleural mesothelioma
H00016	Oral cancer
H00017	Esophageal cancer
H00018	Gastric cancer
H00019	Pancreatic cancer
H00020	Colorectal cancer
H00021	Renal cell carcinoma
H00022	Bladder cancer
H00023	Testicular cancer
H00024	Prostate cancer
H00025	Penile cancer
H00026	Endometrial cancer
H00027	Ovarian cancer
H00028	Choriocarcinoma
H00029	Vulvar cancer
H00030	Cervical cancer
H00031	Breast cancer
H00032	Thyroid cancer
H00033	Adrenal carcinoma
H00034	Carcinoid
H00035	Ewing sarcoma
H00036	Osteosarcoma
H00037	Rhabdomyosarcoma
H00038	Melanoma
H00039	Basal cell carcinoma
H00040	Squamous cell carcinoma
H00041	Kaposi sarcoma
H00042	Glioma
H00043	Neuroblastoma
H00044	Cancer of the anal canal
H00045	Pancreatic neuroendocrine tumor
H00046	Cholangiocarcinoma
H00047	Gallbladder cancer
H00048	Hepatocellular carcinoma; Liver cancer
H00049	Myxoid liposarcoma
H00050	Synovial sarcoma
H00051	Alveolar soft part sarcoma
H00052	Clear cell sarcoma of soft tissue
H00053	Extraskeletal myxoid chondrosarcoma
H00054	Nasopharyngeal cancer
H00055	Laryngeal cancer
H00056	Alzheimer disease; Dementia due to Alzheimer disease
H00057	Parkinson disease
H00058	Amyotrophic lateral sclerosis (ALS); Lou Gehrig disease
H00059	Huntington disease
H00060	Dentatorubropallidoluysian atrophy (DRPLA)
H00061	Prion disease
H00062	Spinal and bulbar muscular atrophy (SBMA); Kennedy disease; X-linked spinal and bulbar muscular atrophy 1 (SMAX1)
H00063	Spinocerebellar ataxia (SCA)
H00064	Ataxia telangiectasia; Louis-Bar syndrome; Boder-Sedgwick syndrome
H00065	Alexander disease
H00066	Lewy body dementia (LBD); Dementia with Lewy bodies (DLB)
H00067	Friedreich ataxia
H00068	Leber hereditary optic atrophy; Leber optic atrophy
H00069	Glycogen storage disease
H00070	Galactosemia
H00071	Hereditary fructose intolerance; Fructosemia
H00072	Pyruvate dehydrogenase complex deficiency
H00073	Pyruvate carboxylase deficiency
H00074	Canavan disease
H00075	Refsum disease; Heredopathia atactica polyneuritiformis
H00076	Cockayne syndrome
H00077	Progressive supranuclear palsy; Steele-Richardson-Olszewski syndrome
H00078	Frontotemporal lobar degeneration
H00079	Asthma
H00080	Systemic lupus erythematosus
H00081	Hashimoto thyroiditis
H00082	Graves disease
H00083	Allograft rejection
H00084	Graft-versus-host disease
H00085	Agammaglobulinemias
H00086	Immunodeficiency with hyper-IgM
H00087	Other humoral immunodeficiencies
H00088	Common variable immunodeficiency
H00089	IFN-gamma/IL-12 axis; Mendelian susceptibility to mycobacterial disease (MSMD)
H00090	NK cell defects; Immunodeficiency-20 (IMD20)
H00091	T-B+Severe combined immunodeficiency
H00092	T-B-Severe combined immunodeficiency
H00093	Combined immunodeficiency
H00094	Immunodeficiency associated with DNA repair defects
H00095	Ectodermal dysplasia and immunodeficiency
H00096	Defects of toll-like receptor signaling
H00097	WHIM syndrome
H00098	Chronic granulomatous disease
H00099	Leukocyte adhesion deficiency
H00100	Neutropenic disorders
H00101	Other phagocyte defects
H00102	Classic complement pathway component defects
H00103	Late complement pathway defects
H00104	Alternative complement pathway component defects
H00105	Mannose-binding lectin pathway component defects; Lectin complement activation pathway, defect in (LCAPD)
H00106	Complement regulatory protein defects
H00107	Other well-defined immunodeficiency syndromes
H00108	Autoimmune lymphoproliferative syndromes
H00109	Familial hemophagocytic lymphohistiocytosis
H00110	Cholera
H00111	Typhoid fever
H00112	Paratyphoid fever
H00113	Salmonellosis
H00114	Fructose-1,6-bisphosphatase deficiency
H00115	Congenital sucrase-isomaltase deficiency; Disaccharide intolerance I
H00116	Congenital lactase deficiency; Disaccharide intolerance II
H00117	Primary hyperoxaluria
H00118	Congenital disorders of glycosylation type I
H00119	Congenital disorders of glycosylation type II
H00120	Muscular dystrophy-dystroglycanopathy type A
H00122	Multiple exostoses
H00123	Mucopolysaccharidosis type IV
H00124	GM2 gangliosidoses
H00125	Fabry disease; Anderson-Fabry disease
H00126	Gaucher disease
H00127	Metachromatic leukodystrophy
H00128	Mucopolysaccharidosis type I; Hurler-Scheie syndrome; Hurler syndrome; Scheie syndrome
H00129	Mucopolysaccharidosis type II; Hunter syndrome
H00130	Mucopolysaccharidosis type III
H00131	Mucopolysaccharidosis type VI; Maroteaux-Lamy syndrome
H00132	Mucopolysaccharidosis type VII; Sly syndrome
H00133	Mucopolysaccharidosis type IX; Hyaluronidase deficiency
H00134	X-linked ichthyosis
H00135	Krabbe disease; Globoid cell leukodystrophy
H00136	Niemann-Pick disease type C
H00137	Niemann-Pick disease type A/B
H00138	Farber lipogranulomatosis; Farber disease
H00139	alpha-Mannosidosis
H00140	beta-Mannosidosis
H00141	Fucosidosis
H00142	Sialidosis; Mucolipidosis I
H00143	Mucolipidosis II; I-cell disease
H00144	Mucolipidosis IV
H00145	Aspartylglucosaminuria
H00146	Alpha-N-acetylgalactosaminidase deficiency
H00147	Sialuria
H00148	Lysosomal acid lipase deficiency
H00149	Neuronal ceroid lipofuscinosis
H00150	Danon disease; X-linked vacuolar cardiomyopathy and myopathy
H00151	Cerebrotendinous xanthomatosis; Van Bogaert-Scherer-Epstein Disease
H00152	Sitosterolemia
H00153	Familial combined hyperlipidemia
H00154	Hyperlipoproteinemia, type I
H00155	Familial hypercholesterolemia; Autosomal dominant hypercholesterolaemia
H00156	Hyperlipoproteinemia, type III; Dysbetalipoproteinemia
H00157	Hyperlipoproteinemia, type V
H00158	Lecithin:cholesterol acyltransferase deficiency; Norum disease; Fish-eye disease
H00159	Tangier disease
H00160	Abetalipoproteinemia; Bassen-Kornzweig Disease
H00161	Smith-Lemli-Opitz syndrome
H00162	Sjogren-Larsson syndrome
H00163	Alkaptonuria
H00164	Carbamoyl phosphate synthetase I deficiency
H00165	Tyrosinemia
H00166	Hermansky-Pudlak syndrome
H00167	Phenylketonuria; Hyperphenylalaninemia
H00168	Oculocutaneous albinism
H00169	Ocular albinism
H00170	Piebaldism
H00171	Histidinemia
H00172	Maple syrup urine disease
H00173	Isovaleric acidemia
H00174	Methylmalonic aciduria; Methylmalonic acidemia
H00175	Propionic acidemia
H00176	Adrenoleukodystrophy
H00177	Neonatal adrenoleukodystrophy
H00178	Glutaric acidemia
H00179	3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
H00180	Holocarboxylase synthetase deficiency; Multiple carboxylase deficiency
H00181	3-Methylcrotonylglycinuria; 3-Methylcrotonyl-CoA carboxylase deficiency
H00182	Cystathioninuria
H00183	Homocystinuria
H00184	Hypermethioninemia
H00185	Citrullinemia
H00186	Hyperargininemia
H00187	Ornithine transcarbamylase deficiency
H00188	Hyperlysinemia
H00189	Ornithinaemia; Gyrate Atrophy
H00190	Hyperprolinemia
H00191	Nonketotic hyperglycinemia; Glycine encephalopathy (GCE)
H00192	Xanthinuria
H00193	Dihydropyrimidine dehydrogenase deficiency
H00194	Lesch-Nyhan syndrome; Hypoxanthine-guanine phosophoribosyltransferase deficiency
H00195	Adenine phosphoribosyltransferase deficiency; 2,8-Dihydroxyadenine urolithiasis
H00196	Phosphoribosylpyrophosphate synthetase superactivity
H00197	Adenylosuccinate lyase deficiency
H00198	Orotic aciduria
H00199	Dihydropyrimidinase deficiency; Dihydropyrimidinuria
H00200	Beta-ureidopropionase deficiency
H00201	Erythropoietic porphyria
H00202	Hepatic porphyria
H00203	Acatalasemia; Takahara disease
H00204	Heimler syndrome
H00205	Peroxisome biogenesis disorder
H00206	Mevalonate kinase deficiency
H00207	Rhizomelic chondrodysplasia punctata
H00208	Hyperbilirubinemia
H00209	Menkes syndrome
H00210	Wilson disease; Hepatolenticular degeneration
H00211	Hemochromatosis
H00212	Acrodermatitis enteropathica
H00213	Hypophosphatasia
H00214	Hypophosphatemic rickets
H00215	Periodic paralysis
H00216	Congenital adrenal hyperplasia
H00217	Pulmonary alveolar proteinosis
H00218	Cystic fibrosis
H00219	Hemophilia
H00220	Factor V deficiency; Owren disease
H00221	Combined deficiency of factors V and VIII
H00222	Congenital fibrinogen deficiency
H00223	Inherited thrombophilia; Thrombophilia due to thrombin defect (THPH)
H00224	Bernard-Soulier syndrome; Giant platelet syndrome
H00225	Thrombotic thrombocytopenic purpura; Moschcowitz disease; Schulman-Upshaw syndrome
H00226	Glanzmann thrombasthenia
H00227	Congenital amegakaryocytic thrombocytopenia
H00228	Thalassemia
H00229	Sickle cell disease; Sickle cell anemia
H00230	Hereditary spherocytosis
H00231	Hereditary elliptocytosis
H00232	Hereditary stomatocytosis
H00233	MYH9-related disease; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)
H00234	Pelger-Huet anomaly
H00235	Methemoglobinemia
H00236	Congenital polycythemia; Familial erythrocytosis (ECYT)
H00237	Diamond-Blackfan anemia
H00238	Fanconi anemia
H00239	Bartter syndrome
H00240	Gitelman syndrome
H00241	Osteopetrosis with renal tubular acidosis; Renal tubular acidosis type 3
H00242	Liddle syndrome
H00243	Renal tubular acidosis type 4
H00244	Pseudohypoparathyroidism
H00245	Calcium sensing receptor (CASR) related disease
H00246	Primary hyperparathyroidism; Familial hyperparathyroidism
H00247	Multiple endocrine neoplasia syndrome; Wermer syndrome; Sipple syndrome
H00248	Analbuminemia
H00249	Thyroid hormone resistance syndrome
H00250	Congenital nongoitrous hypothyroidism (CHNG)
H00251	Thyroid dyshormonogenesis; Dyshormogenetic goiter
H00252	Congenital nephrogenic diabetes insipidus
H00253	Neurohypophyseal diabetes insipidus; Central diabetes insipidus
H00254	Growth hormone deficiency; Pituitary dwarfism
H00255	Hypogonadotropic hypogonadism
H00256	Familial glucocorticoid deficiency
H00257	Achalasia Addisonianism Alacrima syndrome; Triple A syndrome; Allgrove syndrome
H00258	Aldosterone synthase deficiency; Corticosterone methyloxidase type I deficiency; Corticosterone methyloxidase type II deficiency
H00259	Apparent mineralocorticoid excess syndrome; 11-beta-ketoreductase deficiency
H00260	Pigmented micronodular adrenocortical disease
H00261	Meckel syndrome; Meckel-Gruber syndrome
H00262	Neural tube defects, folate-sensitive
H00263	Acrocallosal syndrome
H00264	Charcot-Marie-Tooth disease; Hereditary motor and sensory neuropathy
H00265	Hereditary sensory and autonomic neuropathy
H00266	Hereditary spastic paraplegia
H00267	Holoprosencephaly
H00268	Lissencephaly
H00269	Primary microcephaly
H00270	Periventricular nodular heterotopia
H00271	Polymicrogyria
H00272	Multiple sulfatase deficiency
H00273	Pycnodysostosis
H00274	Papillon-Lefevre syndrome
H00275	Cystinosis
H00276	Galactosialidosis; Neuraminidase deficiency with beta-galactosidase deficiency
H00277	Enterohemorrhagic Escherichia coli (EHEC) infection
H00278	Enteropathogenic Escherichia coli (EPEC) infection
H00279	Uropathogenic Escherichia coli (UPEC) infection
H00280	Enterotoxigenic Escherichia coli (ETEC) infection
H00281	GM1 gangliosidosis
H00282	Cryopyrin associated periodic syndrome
H00283	Ebola disease; Ebola hemorrhagic fever
H00284	Crimean-Congo hemorrhagic fever
H00285	Blau syndrome; Sarcoidosis, early-onset
H00286	Crohn disease
H00287	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome
H00288	Familial Mediterranean fever; Familial hereditary periodic fever syndromes
H00289	Recurrent hydatidiform moles; Familial biparental hydatidiform
H00290	Aicardi-Goutieres syndrome
H00291	Familial chilblain lupus (FCL); Chilblain lupus erythematosus (CHLE)
H00292	Hypertrophic cardiomyopathy
H00293	Arrhythmogenic right ventricular cardiomyopathy
H00294	Dilated cardiomyopathy
H00295	Viral myocarditis
H00296	Defects in RecQ helicases
H00297	Plague
H00298	Yersiniosis
H00299	Shigellosis; Bacillary dysentery
H00300	Enterobacter infection
H00301	Klebsiella infection
H00302	Citrobacter infection
H00303	Serratia infection
H00304	Haemophilus influenzae infection
H00305	Chancroid
H00306	Pasteurellosis
H00307	Vibrio parahaemolyticus infection
H00308	Vibrio vulnificus infection
H00309	Multidrug-resistant Acinetobacter infection
H00310	Q fever
H00311	Legionellosis; Legionnaires disease
H00312	Tularemia
H00313	Multidrug-resistant Pseudomonas aeruginosa infection
H00314	Meningococcal infection
H00315	Gonococcal infection; Gonorrhea
H00316	Glanders
H00317	Melioidosis
H00319	Pertussis; Whooping cough
H00320	Helicobacter pylori infection
H00321	Campylobacter infection; Campylobacteriosis
H00322	Epidemic typhus
H00323	Spotted fever; Tick-borne rickettsioses
H00324	Scrub typhus
H00325	Brucellosis
H00326	Bartonellosis
H00327	Trench fever
H00328	Anthrax
H00329	Foodborne Bacillus cereus intoxication
H00330	Methicillin-resistant Staphylococcal aureus (MRSA) infection
H00331	Vancomycin-resistant Staphylococcal aureus (VRSA) infection
H00332	Listeriosis
H00333	Streptococcal infection
H00334	Bacterial endocarditis; Infective endocarditis
H00335	Foodborne Clostridium perfringens intoxication
H00336	Gas gangrene; Clostridial myonecrosis
H00337	Tetanus
H00338	Pseudomembranous colitis
H00339	Botulism
H00340	Vancomycin-resistant enterococci infection
H00341	Mycoplasma pneumonia
H00342	Tuberculosis
H00343	Diphtheria
H00344	Leprosy; Hansen disease
H00345	Nocardiosis
H00346	Extrinsic allergic alveolitis; Hypersensitivity pneumonitis
H00347	Chlamydia infection
H00348	Lymphogranuloma venereum
H00349	Trachoma
H00350	Psittacosis; Parrot fever
H00351	Chlamydial pneumonia
H00352	Whipple disease
H00353	Lyme borreliosis; Lyme disease
H00354	Syphilis
H00355	Leptospirosis; Weil disease
H00356	Cryptosporidiosis
H00357	African trypanosomiasis; Sleeping sickness
H00358	Chagas disease; American trypanosomiasis
H00359	Leishmaniasis
H00360	Amoebiasis
H00361	Malaria
H00362	Giardiasis; Lambliasis
H00363	Candidiasis
H00364	Cryptococcosis
H00365	Herpes simplex virus infection; HSV infection
H00366	Varicella; Chickenpox; Herpes zoster; Shingles
H00367	Infectious mononucleosis; Epstein-Barr virus (EBV) infection
H00368	Cytomegalovirus infection; CMV infection
H00369	Exanthema subitum; Roseolovirus infection; Roseola; Pityriasis rosea
H00370	Progressive multifocal leukoencephalopathy
H00371	Adenovirus infection
H00372	Smallpox; Variola
H00373	Mpox (Monkeypox)
H00374	Viral wart
H00375	SBCAD deficiency; Short-branched-chain acyl-CoA dehydrogenase deficiency
H00376	Acute poliomyelitis; Polio
H00377	Rabies
H00378	Lyssavirus infection; Rabies-related virus infection
H00379	Mosquito-borne viral encephalitis
H00380	Tick-borne viral encephalitis
H00381	Dengue
H00382	Mosquito-borne viral fever
H00383	Arthropod-borne viral fever
H00384	Yellow fever
H00385	South American hemorrhagic fever
H00386	Lassa fever
H00387	B virus infection
H00388	Non-chlamydial non-gonococcal urethritis
H00389	Hemorrhagic fever with renal syndrome
H00390	Hantavirus pulmonary syndrome
H00391	Henipavirus infection
H00392	VLCAD deficiency; Very long-chain acyl-CoA dehydrogenase deficiency
H00393	Enterovirus infection; Non-polio enterovirus infection
H00394	Measles
H00395	Rubella
H00396	Mumps
H00397	Ross River fever
H00398	Influenza
H00399	Avian influenza; Bird flu; H5N1 flu
H00400	Parainfluenza infection
H00401	Respiratory syncytial virus infection; RSV infection
H00402	Severe acute respiratory syndrome; SARS
H00403	Disorders of nucleotide excision repair
H00404	Erythema infectiosum; Fifth disease
H00405	Marburg disease; Marburg hemorrhagic fever
H00406	Acquired immunodeficiency syndrome (AIDS)
H00407	Peroxisomal beta-oxidation enzyme deficiency
H00408	Type 1 diabetes mellitus
H00409	Type 2 diabetes mellitus
H00410	Maturity onset diabetes of the young (MODY)
H00411	Hepatitis A; Hepatitis A virus (HAV) infection
H00412	Hepatitis B; Hepatitis B virus (HBV) infection
H00413	Hepatitis C; Hepatitis C virus (HCV) infection
H00414	Hepatitis D; Hepatitis D virus (HDV) infection; Hepatitis delta virus infection
H00415	Hepatitis E; Hepatitis E virus (HEV) infection
H00416	Omsk hemorrhagic fever
H00417	Alstrom syndrome
H00418	Bardet-Biedl syndrome
H00419	Congenital generalized lipodystrophy
H00420	Familial partial lipodystrophy
H00421	Mucopolysaccharidosis
H00422	Glycoproteinoses
H00423	Sphingolipidosis
H00424	Defects in the degradation of sphingomyelin
H00425	Lysosomal cysteine protease deficiencies
H00426	Gangliosidosis
H00427	Relapsing fever
H00428	Distal renal tubular acidosis; Renal tubular acidosis type 1
H00429	Proximal renal tubular acidosis; Renal tubular acidosis type 2
H00430	Fibrodysplasia ossificans progressiva
H00431	Ossification of the posterior longitudinal ligament of spine
H00432	Hereditary dentine disorders
H00433	Holt-Oram syndrome
H00434	Camurati-Engelmann disease; Progressive diaphyseal dysplasia
H00435	Toxoplasmosis
H00436	Osteopetrosis
H00437	Paget disease of bone
H00438	Nasu-Hakola disease; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
H00439	Shwachman-Diamond syndrome
H00440	Rett syndrome
H00441	Progressive osseous heteroplasia
H00442	Campomelic dysplasia
H00443	Osteoglophonic dysplasia; Osteoglophonic dwarfism
H00444	Osteopathia striata with cranial sclerosis
H00445	Osteoarthritis with mild chondrodysplasia
H00446	Craniofacial-deafness-hand syndrome
H00447	HEM skeletal dysplasia; Greenberg dysplasia
H00448	Familial osteochondritis dissecans; Osteochondritis dissecans, short stature, and early-onset osteoarthritis
H00449	Oculodentodigital dysplasia
H00450	Worth type autosomal dominant osteosclerosis; Endosteal hyperostosis
H00451	Osteoporosis-pseudoglioma syndrome
H00452	Buschke-Ollendorff syndrome; Osteopoikilosis
H00453	Branchio-oto-renal syndrome; BOR syndrome
H00454	Oral-facial-digital syndrome; Orofaciodigital syndrome
H00455	Spinal muscular atrophy
H00456	Fronto-otopalatodigital syndromes
H00457	Primary hypertrophic osteoarthropathy
H00458	Syndromic craniosynostoses
H00459	Synpolydactyly
H00460	Hand-foot-genital syndrome
H00461	Ischiocoxopodopatellar syndrome; Coxopodopatellar syndrome; Small patella syndrome; Scott-Taor syndrome
H00462	Stuve-Wiedemann syndrome
H00463	Currarino syndrome
H00464	Nail-patella syndrome
H00465	Fragile X syndrome
H00466	Grebe dysplasia; Acromesomelic dysplasia Hunter-Thompson type
H00467	Fibular hypoplasia and complex brachydactyly; Du Pan syndrome; Acromesomelic dysplasia 2B
H00468	Acromesomelic dysplasia, Demirhan type; Acromesomelic dysplasia with genital anomalies
H00469	Mitochondrial DNA depletion syndrome
H00470	Acromesomelic dysplasia, Maroteaux type
H00471	Split-hand/foot malformation
H00472	Torg syndrome; Torg-Winchester syndrome; Multicentric osteolysis, nodulosis, and arthropathy
H00473	Mitochondrial complex I deficiency
H00474	Schneckenbecken dysplasia
H00475	Enlarged parietal foramina/cranium bifidum
H00476	Multiple epiphyseal dysplasia
H00477	Pseudoachondroplasia
H00478	Prader-Willi syndrome
H00479	Metaphyseal dysplasias
H00480	X-linked intellectual developmental disorder; X-linked mental retardation
H00481	Cone-rod dystrophy and cone dystrophy
H00482	Brachydactyly
H00483	Angel shaped phalangoepiphyseal dysplasia
H00484	Multiple synostosis syndrome
H00485	Robinow syndrome
H00486	Sclerosteosis
H00487	Tricho-dento-osseous syndrome
H00488	MCAD deficiency; Medium-chain acyl-CoA dehydrogenase deficiency; ACADM deficiency
H00489	LCHAD deficiency; Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency
H00490	Diaphyseal dysplasia with anemia; Ghosal hematodiaphyseal dysplasia
H00491	Craniometaphyseal dysplasia
H00492	SHOX-related short stature
H00493	Heparan sulfate proteoglycan gene defects
H00494	Desbuquois syndrome; Desbuquois dysplasia (DBQD)
H00495	Eiken dysplasia
H00496	Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
H00497	Cherubism
H00498	Gnathodiaphyseal dysplasia
H00499	Spondylocarpotarsal synostosis syndrome
H00500	Keutel syndrome
H00501	Fibrous dysplasia, polyostotic; McCune-Albright syndrome; Albright hereditary osteodystrophy
H00502	Pallister-Hall syndrome
H00503	Ellis-van Creveld syndrome
H00504	Rubinstein-Taybi syndrome
H00505	FGFR3-related short limb skeletal dysplasia
H00506	Osteogenesis imperfecta
H00507	Dyskeratosis congenita
H00508	Blomstrand syndrome; Blomstrand chondrodysplasia
H00509	3M syndrome
H00510	Feingold syndrome
H00511	Short rib-polydactyly syndrome
H00512	Permanent neonatal diabetes mellitus
H00513	Transient neonatal diabetes mellitus
H00514	Bruck syndrome
H00515	Atelosteogenesis type II
H00516	Cleft lip and/or cleft palate
H00517	Spondylocostal dysostosis
H00518	Metaphyseal dysplasia without hypotrichosis
H00519	Spondyloepiphyseal dysplasia congenita
H00520	Type II collagenopathies
H00521	Cleidocranial dysplasia
H00522	Brachyolmia
H00523	Noonan syndrome and related disorders
H00524	Scapuloperoneal spinal muscular atrophy
H00525	Disorders of mitochondrial fatty-acid oxidation
H00526	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; Jacobs syndrome
H00527	Retinitis pigmentosa
H00528	Frontonasal dysplasia
H00529	Cranioectodermal dysplasia
H00530	Joubert syndrome and related disorders
H00531	Venous malformations
H00532	Parkes Weber syndrome
H00533	Hereditary hemorrhagic telangiectasia
H00534	Cerebral cavernous malformation
H00535	Lymphatic malformation
H00536	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy; CADASIL
H00537	Nephronophthisis
H00538	Senior-Loken syndrome
H00539	PTEN hamartoma tumor syndrome
H00540	Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID); Ectodermal dysplasia and immunodeficiency 1 (EDAID1); Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema
H00541	Autosomal dominant tubulointerstitial kidney disease
H00542	Polycystic kidney disease
H00543	Renal-hepatic-pancreatic dysplasia
H00544	Septo-optic dysplasia
H00545	Polycystic liver disease
H00546	Atrial septal defect
H00547	Atrioventricular septal defect; Atrioventricular canal defect
H00548	Brunner syndrome; MAOA deficiency
H00549	Tetralogy of Fallot
H00550	Complete transposition of the great arteries
H00551	Alagille syndrome
H00552	Chromosome Xp21 deletion syndrome
H00553	Congenital supravalvular aortic stenosis
H00554	Aortic valve disease; Bicuspid aortic valve
H00555	Char syndrome
H00556	CHARGE syndrome
H00557	Cutis laxa
H00558	Geroderma osteodysplasticum
H00559	von Hippel-Lindau syndrome
H00560	Pseudoxanthoma elasticum
H00561	Brachydactyly-mental retardation syndrome; Chromosome 2q37 deletion syndrome
H00562	Dystrophinopathies
H00563	Emery-Dreifuss muscular dystrophy
H00564	Primary ciliary dyskinesia
H00565	Sarcoglycanopathies
H00566	Distal myopathy with anterior tibial onset
H00567	Limb-girdle muscular dystrophy 1C; Limb-girdle muscular dystrophy, caveolin myopathy
H00568	Myotonic dystrophy
H00569	Aarskog-Scott syndrome; Faciogenital dysplasia
H00570	Kabuki syndrome
H00571	Johanson-Blizzard syndrome
H00572	Roberts-SC phocomelia syndrome
H00573	Townes-Brocks syndrome
H00574	Coffin-Lowry syndrome
H00575	Renal tubular dysgenesis
H00576	Pierson syndrome
H00577	Symptomatic generalized epilepsies
H00578	Epstein syndrome
H00579	Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC)
H00580	Schimke immunoosseous dysplasia
H00581	Alport syndrome
H00582	Benign familial hematuria; Thin basement membrane nephropathy
H00583	Opitz-GBBB syndrome
H00584	Epidermolysis bullosa simplex
H00585	Epidermolysis bullosa, hemidesmosomal
H00586	Epidermolysis bullosa, junctional
H00587	Epidermolysis bullosa, dystrophica
H00588	Kindler syndrome
H00589	Familial exudative vitreoretinopathy
H00590	Congenital muscular dystrophies (CMD/MDC)
H00591	Facioscapulohumeral muscular dystrophy
H00592	Calpainopathy; Limb-girdle muscular dystrophy 2A
H00593	Limb-girdle muscular dystrophy
H00594	Distal myopathy
H00595	Myofibrillar myopathies
H00596	Nonaka myopathy (NM); Nonaka distal myopathy; Hereditary inclusion body myopathy (HIBM)
H00597	Snyder-Robinson syndrome
H00598	46,XX testicular disorder of sex development
H00599	Ovarian dysgenesis; 46,XX gonadal dysgenesis
H00600	Mullerian agenesis; Mayer Rokitansky Kuster Hauser syndrome
H00601	Hutchinson-Gilford progeria syndrome
H00602	Glucocorticoid-remediable aldosteronism (GRA); Familial hyperaldosteronism type I
H00603	Hypertension exacerbated in pregnancy
H00604	Deafness, autosomal dominant
H00605	Deafness, autosomal recessive
H00606	Early infantile epileptic encephalopathy; Developmental and epileptic encephalopathy; Ohtahara syndrome
H00607	46,XY gonadal dysgenesis
H00608	46,XY disorder of sex development due to testosterone secretion defect
H00609	Persistent Mullerian duct syndrome
H00610	Treacher Collins syndrome
H00611	Popliteal pterygium syndrome (PPS)
H00612	Primary open angle glaucoma; Glaucoma 1
H00613	Infantile cortical hyperostosis; Caffey disease
H00614	Hyaline fibromatosis syndrome
H00615	Amelogenesis imperfecta
H00616	Bowen-Conradi syndrome
H00617	Desmosterolosis
H00618	Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism
H00619	Kenny-Caffey syndrome
H00620	Axenfeld-Rieger syndrome
H00621	Alopecia neurologic defects and endocrinopathy syndrome; ANE syndrome
H00622	Hypoparathyroidism-retardation-dysmorphism syndrome; Sanjad-Sakati syndrome
H00623	Hajdu-Cheney syndrome
H00624	Progressive familial intrahepatic cholestasis
H00625	Tooth agenesis; Hypodontia
H00626	Focal segmental glomerulosclerosis
H00627	Premature ovarian failure
H00628	Congenital bile acid synthesis defect
H00629	Acheiropodia
H00630	Rheumatoid arthritis
H00631	Cornelia de Lange syndrome
H00632	Heterotaxy; Situs ambiguus
H00633	Duane retraction syndrome
H00634	Duane-radial ray syndrome; Okihiro syndrome
H00635	Aniridia
H00636	Tetra-amelia syndrome
H00637	Ulnar-mammary syndrome; Schinzel syndrome
H00638	Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome; EEC syndrome
H00639	Ectodermal dysplasia, ectrodactyly, and macular dystrophy; EEM syndrome
H00640	Limb-mammary syndrome
H00641	ADULT syndrome
H00642	Lacrimo-auriculo-dento-digital syndrome; LADD syndrome; Levy-Hollister syndrome
H00643	Tooth and nail syndrome; Witkop syndrome
H00644	Ectodermal dysplasia/skin fragility syndrome
H00645	Incontinentia pigmenti
H00646	Odontoonychodermal dysplasia
H00647	Ectodermal dysplasia-syndactyly syndrome
H00648	Ectodermal dysplasia, Clouston type; Clouston syndrome
H00649	Ectodermal dysplasia, hair-nail type
H00650	Allan-Herndon-Dudley syndrome; Monocarboxylate transporter 8 deficiency
H00651	Hypohidrotic ectodermal dysplasia
H00652	Solitary median maxillary central incisor syndrome
H00653	Marfan syndrome
H00654	Barth syndrome
H00655	McLeod syndrome
H00656	Scapuloperoneal myopathy
H00657	Reducing body myopathy
H00658	X-linked syndromic intellectual developmental disorder; Syndromic X-linked mental retardation
H00659	Shprintzen-Goldberg syndrome
H00660	Congenital contractural arachnodactyly; Beals syndrome
H00661	MASS phenotype
H00662	Ectopia lentis
H00663	Restrictive dermopathy
H00664	Anemia due to disorders of glycolytic enzymes
H00665	Mandibuloacral dysplasia
H00666	Peutz-Jeghers syndrome
H00667	Woolly hair
H00668	Anemia due to disorders of glutathione metabolism
H00669	Naxos disease
H00670	Monilethrix
H00671	Netherton syndrome
H00672	Pseudofolliculitis barbae
H00673	Weill-Marchesani syndrome
H00674	Anemia due to disorders of nucleotide metabolism
H00675	Acrocapitofemoral dysplasia
H00676	Congenital primary aphakia
H00677	Aplasia of lacrimal and salivary glands
H00678	Achondrogenesis type IA; Achondrogenesis, Houston-Harris type
H00679	Hypomyelinating leukodystrophy; Pelizaeus-Merzbacher disease (PMD)
H00680	Primary failure of tooth eruption
H00681	Acne inversa; Hidradenitis suppurativa
H00682	Woodhouse-Sakati syndrome; Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
H00683	Anonychia congenita
H00684	Pachyonychia congenita
H00685	Bifid nose with or without anorectal and renal anomalies; BNAR syndrome
H00686	Manitoba oculotrichoanal syndrome
H00687	Fraser syndrome
H00688	Familial advanced sleep phase syndrome
H00689	Delayed sleep phase disorder
H00690	Aland Island eye disease; Forsius-Eriksson syndrome
H00691	Bullous congenital ichthyosiform erythroderma (BCIE); Epidermolytic hyperkeratosis (EHK)
H00692	Lowe syndrome; Oculocerebrorenal Dystrophy (OCRL)
H00693	Ichthyosis bullosa of Siemens
H00694	Dent disease
H00695	Mal de Meleda; Meleda disease
H00696	Haim-Munk syndrome; Keratosis palmoplantaris periodontopathia onychogryposis
H00697	X-linked myopathy with postural muscle atrophy
H00698	Nemaline myopathy
H00699	Central core disease
H00700	Centronuclear myopathy
H00701	Congenital fiber type disproportion
H00702	Cap myopathy
H00703	Myosin storage myopathy; Hyaline body myopathy
H00704	Oculopharyngeal muscular dystrophy
H00705	Myotonia congenita
H00706	Bart-Pumphrey syndrome
H00707	Ichthyosis hystrix
H00708	Naegeli-Franceschetti-Jadassohn syndrome
H00709	Birk Barel mental retardation syndrome (BBMRS); Birk-Barel syndrome (BIBAS)
H00710	Erythrokeratodermia variabilis
H00711	Russell-Silver syndrome; Silver-Russell syndrome
H00712	KID/HID syndrome
H00713	Beckwith-Wiedemann syndrome
H00714	Vohwinkel syndrome
H00715	Darier disease; Dyskeratosis follicularis
H00716	Palmoplantar keratoderma with deafness
H00717	Striate palmoplantar keratoderma
H00718	Sotos syndrome
H00719	Leprechaunism; Donohue syndrome
H00720	Long QT syndrome
H00721	Pyogenic bacterial infections, recurrent, due to MYD88 deficiency
H00722	Epidermolytic palmoplantar keratoderma
H00723	Non-epidermolytic palmoplantar keratoderma
H00724	White sponge nevus
H00725	Short QT syndrome
H00726	Meesmann corneal dystrophy
H00727	Athabascan brainstem dysgenesis syndrome; Bosley-Salih-Alorainy syndrome
H00728	Brugada syndrome
H00729	Sick sinus syndrome; Sinus node dysfunction
H00730	Familial idiopathic ventricular fibrillation
H00731	Atrial fibrillation
H00732	Sorsby fundus dystrophy
H00733	Harlequin ichthyosis
H00734	Autosomal recessive congenital ichthyosis
H00735	Ichthyosis vulgaris
H00736	Dorfman-Chanarin syndrome; Chanarin-Dorfman syndrome
H00737	Peeling skin syndrome
H00738	Ichthyosis with confetti; Congenital reticular ichthyosiform erythroderma; Ichthyosis variegata
H00739	Ichthyosis with hypotrichosis
H00740	Ichthyosis follicularis, alopecia, and photophobia syndrome
H00741	Ichthyosis prematurity syndrome
H00742	Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome; Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC)
H00743	Paramyotonia congenita
H00744	Potassium-aggravated myotonia; Sodium channel myotonia
H00745	Hyperkalemic periodic paralysis
H00746	Hypokalemic periodic paralysis
H00747	Thyrotoxic hypokalemic periodic paralysis
H00748	Andersen-Tawil syndrome
H00749	Episodic ataxias
H00750	Keratosis pilaris atrophicans
H00751	Asphyxiating thoracic dystrophy
H00752	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome
H00753	Urofacial syndrome
H00754	3-Methylglutaconic aciduria
H00755	Acrokeratosis verruciformis
H00756	Pitt-Hopkins syndrome
H00757	Dyggve-Melchior-Clausen disease
H00758	Progressive pseudorheumatoid dysplasia; Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA)
H00759	Waardenburg syndrome
H00760	Spondyloepiphyseal dysplasia tarda
H00761	SEMD, Pakistani type; Brachyolmia type 4
H00762	Spondyloepiphyseal dysplasia with congenital joint dislocations; Spondyloepiphyseal dysplasia, Omani type
H00763	Transient bullous dermolysis of the newborn
H00764	Chromosome 5p deletion syndrome; Cri du chat syndrome; Cat cry syndrome
H00765	Spondyloepiphyseal dysplasia, Kimberley type
H00766	Wolcott-Rallison syndrome
H00767	SEMD, Matrilin type
H00768	Autosomal recessive intellectual developmental disorder; Autosomal recessive mental retardation
H00769	Hyperekplexia; Startle disease
H00770	Congenital myasthenic syndrome
H00771	Inherited erythromelalgia; Primary erythromelalgia
H00772	Paroxysmal extreme pain disorder
H00773	Autosomal dominant intellectual developmental disorder; Autosomal dominant mental retardation
H00774	Congenital insensitivity to pain
H00775	Hemiplegic migraine
H00776	Congenital motor nystagmus (CMN); Idiopathic congenital nystagmus (ICN)
H00777	SEMD, short limb-hand type; SEMD, short limb-abnormal calcification type
H00778	Tarsal-carpal coalition syndrome
H00779	Usher syndrome
H00780	Atrichia with papular lesions
H00781	Schopf-Schulz-Passarge syndrome; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis
H00782	Hypotrichosis and recurrent skin vesicles
H00783	Febrile seizures
H00784	Localized autosomal recessive hypotrichosis
H00785	Congenital hypotrichosis with juvenile macular dystrophy
H00786	Hypotrichosis
H00787	Congenital stationary night blindness
H00788	Hoyeraal-Hreidarsson syndrome; X-linked dyskeratosis congenita
H00789	Keratoconus
H00790	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; KLICK syndrome
H00791	Disseminated superficial actinic porokeratosis (DSAP)
H00792	Warburg micro syndrome
H00793	Poikiloderma with neutropenia
H00794	Aromatase excess syndrome
H00795	Seborrhea-like dermatitis with psoriasiform element
H00796	Dermatopathia pigmentosa reticularis
H00797	Martsolf syndrome
H00798	Familial carpal tunnel syndrome
H00799	CEDNIK syndrome; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
H00800	Loeys-Dietz syndrome
H00801	Familial thoracic aortic aneurysm and dissection; Aortic aneurysm familial thoracic type (AAT)
H00802	Ehlers-Danlos syndrome
H00803	Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME); SeSAME/EAST syndrome
H00804	Multiple cutaneous and uterine leiomyomata
H00805	Vitreoretinal degeneration
H00806	Benign familial neonatal seizure
H00807	Nocturnal frontal lobe epilepsy
H00808	Idiopathic generalized epilepsies
H00809	Familial epilepsy temporal lobe (ETL)
H00810	Progressive myoclonic epilepsy
H00811	Distal arthrogryposis
H00812	Trichomoniasis
H00813	Laryngo onycho cutaneous syndrome
H00814	Vitelliform macular dystrophy
H00815	H syndrome; Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism
H00816	Agenesis of the corpus callosum with peripheral neuropathy
H00817	Branchiooculofacial syndrome
H00818	Birt-Hogg-Dube syndrome
H00819	Stargardt disease; Fundus flavimaculatus
H00820	Bjornstad syndrome
H00821	Age-related macular degeneration
H00822	Renal hypodysplasia and aplasia
H00823	ABCD syndrome
H00824	Calcification of joints and arteries
H00825	Familial flecked retina syndrome
H00826	Blepharophimosis-ptosis-epicanthus inversus syndrome
H00827	Brooke-Spiegler syndrome
H00828	Familial cylindromatosis
H00829	Multiple familial trichoepithelioma
H00830	Alveolar capillary dysplasia with misalignment of pulmonary veins
H00831	Primary dystonia
H00832	Core neuroacanthocytosis syndromes
H00833	Neurodegeneration with brain iron accumulation
H00834	Guanidinoacetate methyltransferase deficiency
H00835	Succinic semialdehyde dehydrogenase deficiency; 4-Hydroxybutyric aciduria
H00836	GLUT1 deficiency syndrome
H00837	Leber congenital amaurosis
H00838	Congenital fibrosis of the extraocular muscles
H00839	Porencephaly
H00840	Pseudo-TORCH syndrome
H00841	Infantile progressive bulbar palsy
H00842	Epidermodysplasia verruciformis
H00843	Hartnup disorder
H00844	Familial benign chronic pemphigus; Hailey-Hailey disease
H00845	Familial amyloidosis
H00846	Fuhrmann syndrome; Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
H00847	Al-Awadi/Raas-Rothschild syndrome; Ulna and fibula, absence of, with sever limb deficiency
H00848	Ataxia with ocular apraxia
H00849	Cerebral creatine deficiency syndrome
H00850	Frontorhiny; Median facial cleft syndrome; Frontonasal dysplasia 1
H00851	Proximal symphalangism
H00852	Klippel-Feil syndrome
H00853	Cenani-Lenz syndactyly syndrome
H00854	Wolfram syndrome
H00855	Triphalangeal thumb-polysyndactyly syndrome
H00856	Distal hereditary motor neuropathies
H00857	Oligodontia-colorectal cancer syndrome
H00858	Marie-Unna hereditary hypotrichosis
H00859	Guttmacher syndrome
H00860	Benign hereditary chorea
H00861	Pancreatic agenesis
H00862	Tourette syndrome
H00863	Spondylo-megaepiphyseal-metaphyseal dysplasia
H00864	Trichotillomania
H00865	Lethal congenital contractural syndrome
H00866	Trichothiodystrophy
H00867	Radioulnar synostosis with amegakaryocytic thrombocytopenia
H00868	Stapes ankylosis with broad thumb and toes
H00869	Leukoencephalopathy with vanishing white matter; Vanishing white matter disease
H00870	Brachydactyly-syndactyly syndrome
H00871	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
H00872	Trismus-pseudocamptodactyly syndrome; Hecht-Beals syndrome; Dutch-Kentucky syndrome
H00873	Cousin syndrome; Pelviscapular dysplasia
H00874	Leukoencephalopathy with dystonia and motor neuropathy; Sterol carrier protein 2 deficiency
H00875	Megaloencephalic leukoencephalopathy with subcortical cysts
H00876	Mismatch repair deficiency
H00877	Brain small vessel disease
H00878	Cystic leukoencephalopathy without megalencephaly
H00879	Perry syndrome
H00880	Dyschromatosis symmetrica hereditaria
H00881	Li-Fraumeni syndrome
H00882	Cocoon syndrome
H00883	Lipoid proteinosis; Urbach-Wiethe disease
H00884	Familial progressive hyperpigmentation
H00885	Hypomelanosis of Ito; Pigmentary mosaicism
H00886	Donnai-Barrow syndrome; Faciooculoacousticorenal syndrome
H00887	Lipoprotein glomerulopathy
H00888	Nephrolithiasis/osteoporosis, hypophosphatemic
H00889	Lujan-Fryns syndrome; X-linked mental retardation with Marfanoid habitus
H00890	Azoospermia
H00891	Combined oxidative phosphorylation deficiency
H00892	Bronchiectasis with or without elevated sweat chloride
H00893	Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
H00894	FG syndrome; Opitz-Kaveggia syndrome
H00895	Basal cell nevus syndrome; Nevoid basal cell carcinoma syndrome; Gorlin syndrome
H00896	Lymphangioleiomyomatosis
H00897	Pontocerebellar hypoplasia
H00898	Myopathy with lactic acidosis and sideroblastic anaemia; Mitochondrial myopathy and sideroblastic anemia
H00899	Lysinuric protein intolerance
H00900	Geleophysic dysplasia
H00901	Cystinuria
H00902	Speech-language disorder 1
H00903	Congenital clubfoot; Congenital talipes equinovarus
H00904	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; Urban-Rifkin-Davis syndrome
H00905	Iminoglycinuria
H00906	Macrocephaly, alopecia, cutis laxa, and scoliosis; MACS syndrome
H00907	Kleefstra syndrome; Chromosome 9q34.3 deletion syndrome; 9q Subtelomeric deletion syndrome
H00908	Mowat-Wilson syndrome
H00909	Cleft palate with ankyloglossia
H00910	Hirschsprung disease
H00911	Dicarboxylic aminoaciduria
H00912	Tumor necrosis factor receptor-associated periodic syndrome; Familial periodic fever
H00913	Brain-lung-thyroid syndrome; Choreoathetosis, hypothyroidism, and neonatal respiratory distress
H00914	Warsaw breakage syndrome
H00915	Tuberous sclerosis complex; Bourneville-Pringle disease
H00916	Congenital central hypoventilation syndrome
H00917	Congenital dyserythropoietic anemia
H00918	Double-outlet right ventricle
H00919	Arterial tortuosity syndrome
H00920	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
H00921	Revesz syndrome; Dyskeratosis congenita, autosomal dominant 5; Exudative retinopathy with bone marrow failure
H00922	Schinzel-Giedion midface retraction syndrome
H00923	Congenital systemic glutamine deficiency; Glutamine synthetase deficiency
H00924	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation; NHEJ1 syndrome
H00925	2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency; HSD10 mitochondrial disease
H00926	Growth retardation, developmental delay, coarse facies, and early death
H00927	Chylomicron retention disease; Anderson disease
H00928	Nephropathy with pretibial epidermolysis bullosa and deafness
H00929	Congenital vertical talus
H00930	Hypoalphalipoproteinemia
H00931	Growth hormone insensitivity with immunodeficiency
H00932	Tropical calcific pancreatitis
H00933	Hereditary pancreatitis; Hereditary chronic pancreatitis
H00934	Caudal duplication anomaly
H00935	Cold-induced sweating syndrome
H00936	Goldberg-Shprintzen megacolon syndrome; Goldberg-Shprintzen syndrome (GOSHS)
H00937	Precocious puberty
H00938	Factor XI deficiency; Plasma thromboplastin antecedent deficiency; Rosenthal syndrome
H00939	Darsun syndrome; Neutropenia, severe congenital 4, autosomal recessive; G6PC3 deficiency
H00940	Cohen syndrome
H00941	Factor XII deficiency; Hageman factor deficiency
H00942	Rabson-Mendenhall syndrome
H00943	TARP syndrome
H00944	Dowling-Degos disease
H00945	Factor XIII deficiency
H00946	Arts syndrome
H00947	Pilomatricoma; Epithelioma calcificans of Malherbe
H00948	Renal hypouricemia
H00949	Focal dermal hypoplasia; Goltz-Gorlin syndrome
H00950	Arthrogryposis, renal dysfunction, and cholestasis; ARC syndrome
H00951	Reis-Bucklers corneal dystrophy; Corneal dystrophy of Bowman type I; Granular corneal dystrophy type III
H00952	Thiel-Behnke dystrophies; Corneal dystrophy of Bowman layer type II; Honeycomb corneal dystrophy; Anterior limiting membrane dystrophy type II; Curly fibers corneal dystrophy; Waardenburg-Jonker corneal dystrophy
H00953	Gelatinous drop-like corneal dystrophy; Corneal amyloidosis
H00954	Macular corneal dystrophy; Corneal dystrophy Groenouw type II; Fehr corneal dystrophy
H00955	Granular corneal dystrophies
H00956	Lattice corneal dystrophies
H00957	Corneal fleck dystrophy; Francois-Neetens speckled corneal dystrophy
H00958	Congenital stromal corneal dystrophy; Congenital hereditary stromal dystrophy; Witschel dystrophy
H00959	Schnyder corneal dystrophy; Schnyder crystalline corneal dystrophy (SCCD); Crystalline stromal dystrophy; Schnyder crystalline dystrophy sine crystals
H00960	Fuchs corneal dystrophy; Fuchs endothelial corneal dystrophy
H00961	Posterior polymorphous corneal dystrophy
H00962	RIDDLE syndrome
H00963	Congenital hereditary endothelial dystrophy
H00964	Poor metabolism of thiopurines
H00965	RAPADILINO syndrome
H00966	AICA-ribosiduria; ATIC deficiency
H00967	Adiponectin deficiency
H00968	Raine syndrome; Lethal osteosclerotic bone dysplasia
H00969	Skeletal defects, genital hypoplasia, and mental retardation
H00970	Juvenile primary lateral sclerosis
H00971	Achromatopsia; Rod monochromacy
H00972	Endocrine-cerebro-osteodysplasia syndrome
H00973	Bradyopsia
H00974	Blue cone monochromacy
H00975	Rotaviral enteritis; Rotaviral gastroenteritis
H00976	Colorblindness
H00977	Trichorhinophalangeal syndrome
H00978	Thrombocytopenia (THC)
H00979	Sacral defect with anterior meningocele; Caudal regression syndrome
H00980	Nevo syndrome
H00981	Ataxia with isolated vitamin E deficiency (AVED); Friedreich-like ataxia
H00982	Sideroblastic anemia
H00983	Alpha-2-plasmin inhibitor (a2-PI) deficiency
H00984	MHC class I deficiency
H00985	MHC class II deficiency
H00986	Multiple pterygium syndrome
H00987	Fetal akinesia deformation sequence; Pena-Shokeir syndrome, type 1
H00988	Enterokinase deficiency; Enteropeptidase deficiency
H00989	Mohr-Tranebjaerg syndrome
H00990	Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 3
H00991	Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
H00992	Seckel syndrome
H00993	Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I); Taybi-Linder syndrome
H00994	Familial skewed X-chromosome inactivation
H00995	Combined deficiency of vitamin K-dependent clotting factors
H00996	Amish infantile epilepsy syndrome
H00997	CATSHL syndrome
H00998	Alternating hemiplegia of childhood
H00999	Coenzyme Q10 deficiency
H01000	Retinal vasculopathy with cerebral leukodystrophy
H01001	COACH syndrome
H01002	Generalized arterial calcification of infancy
H01003	Dimethylglycine dehydrogenase deficiency
H01004	Velocardiofacial syndrome
H01005	Dopamine beta-hydroxylase deficiency; Norepinephrine deficiency; Noradrenaline deficiency
H01006	Hereditary angioedema
H01007	Choroid plexus papilloma
H01008	C syndrome; Opitz trigonocephaly syndrome
H01009	Newfoundland rod-cone dystrophy
H01010	Occult macular dystrophy
H01011	Adrenocorticotropic hormone deficiency; Isolated ACDH deficiency
H01012	Oculo-auricular syndrome
H01013	Adult i phenotype
H01014	Sparganosis
H01015	Jalili syndrome
H01016	Primary bile acid malabsorption
H01017	Choanal atresia and lymphedema
H01018	Metachondromatosis
H01019	Catecholaminergic polymorphic ventricular tachycardia
H01020	Optic atrophy
H01021	Rhodococcus equi infection
H01022	Diseases of the tricarboxylic acid cycle
H01023	Juvenile polyposis syndrome
H01024	Hereditary mixed polyposis syndrome
H01025	Familial adenomatous polyposis
H01026	Renal coloboma syndrome; Papillorenal syndrome
H01027	Microphthalmia
H01028	Argininosuccinic aciduria; Argininosuccinate lyase deficiency
H01029	Cornea plana congenita
H01030	Congenital arthrogryposis with anterior horn cell disease
H01031	Orthostatic intolerance; Postural tachycardia syndrome
H01032	N-acetylglutamate synthase deficiency
H01033	Congenital bilateral absence of vas deferens
H01034	L1 syndrome
H01035	Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
H01036	Posterior column ataxia with retinitis pigmentosa
H01037	Vesicoureteral reflux
H01038	Cerebellar ataxia cayman type; Cayman ataxia
H01039	Ovarian hyperstimulation syndrome
H01040	Bamforth-Lazarus syndrome
H01041	Aerococcus urinae infection
H01042	Buruli ulcer
H01043	Onchocerciasis; River blindness; Robles disease
H01044	Dracunculiasis; Guinea worm disease
H01045	Schistosomiasis
H01046	Trichuriasis
H01047	Cysticercosis
H01048	Liver fluke disease; Fascioliasis
H01049	Gordonia bronchialis infection
H01050	Tsukamurella infection
H01051	Corynebacterium ulcerans infection
H01052	Molluscum contagiosum
H01053	Paroxysmal nocturnal hemoglobinuria
H01054	Pediculosis
H01055	Giant kidney worm infection; Dioctophymosis
H01056	Toxocariasis
H01057	Gnathostomiasis
H01058	Anisakiasis
H01059	Capnocytophaga canimorsus infection
H01060	Babesiosis
H01061	Mansonelliasis
H01062	Histoplasmosis
H01063	Human metapneumovirus infection
H01064	Simkania negevensis infection
H01065	Pentosuria
H01066	Bordetella petrii infection
H01067	Proteus mirabilis infection
H01068	Aggregatibacter aphrophilus infection
H01069	Stenotrophomonas maltophilia infection
H01070	Vibrio furnissii infection
H01071	Acute alcohol sensitivity
H01072	Moraxella catarrhalis infection
H01073	Shewanella infection
H01074	Aeromonas infection
H01075	Peters anomaly
H01076	Beta-ketothiolase deficiency; Alpha-methylacetoacetic aciduria
H01077	Bordetella hinzii infection
H01078	Fletcher factor deficiency; Prekallikrein deficiency (PKKD)
H01079	3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency; PHGDH Deficiency
H01080	Ralstonia pickettii infection
H01081	Achromobacter xylosoxidans keratitis
H01082	Phosphoserine aminotransferase deficiency
H01083	Bordetella bronchiseptica infection
H01084	Bordetella holmesii infection
H01085	Diphyllobothriasis
H01086	Lymphatic filariasis
H01087	Balantidiasis; Balantidial dysentery
H01088	Pigmented paravenous chorioretinal atrophy
H01089	Dientamoebiasis
H01090	Ascariasis
H01091	Enterobiasis; Oxyuriasis
H01092	Hookworm disease
H01093	Paragonimiasis; Pulmonary distomatosis; Lung fluke disease; Benign endemic hemoptysis
H01094	Eosinophil peroxidase deficiency
H01095	Syndactyly
H01096	Pyruvate kinase deficiency
H01097	Spastic quadriplegic cerebral palsy
H01098	Pentastomiasis
H01099	Trichinosis; Trichinellosis
H01100	Strongyloidiasis
H01101	Combined lipase deficiency
H01102	Pituitary adenomas
H01103	Alpha-1-antitrypsin deficiency
H01104	Loiasis
H01105	Cranio-lenticulo-sutural dysplasia; Boyadjiev-Jabs syndrome
H01106	Plasminogen activator inhibitor type 1 deficiency
H01108	CD36 deficiency; Platelet glycoprotein IV deficiency; Bleeding disorder platelet-type 10 (BDPLT10)
H01109	Chronic mucocutaneous candidiasis; Familial candidiasis (CANDF)
H01110	Pneumothorax
H01111	Cortisone reductase deficiency
H01112	Polyhydramnios, megalencephaly, and symptomatic epilepsy; PMSE syndrome
H01113	Acid phosphatase deficiency
H01114	Ocular coloboma
H01115	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
H01116	Choroideremia; Tapetochoroidal dystrophy
H01117	Chronic recurrent multifocal osteomyelitis
H01118	Progressive external ophthalmoplegia; Autosomal dominant progressive external ophthalmoplegia
H01119	Prolidase deficiency
H01120	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome; Cerebral proliferative glomeruloid vasculopathy (PGV); Fowler syndrome
H01121	Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency
H01122	Congenital pulmonary alveolar proteinosis; Pulmonary surfactant metabolism dysfunction
H01123	HMG-CoA synthase deficiency
H01124	Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency
H01125	Hereditary pyropoikilocytosis
H01126	Familial renal glucosuria
H01127	PIGM-congenital disorder of glycosylation
H01128	Reticular dysgenesis
H01129	Brody myopathy
H01130	Late-onset retinal degeneration
H01131	Hereditary neuralgic amyotrophy; Hereditary brachial plexus neuropathy
H01132	Aplastic anemia
H01133	Reynolds syndrome
H01134	Rhabdoid predisposition syndrome
H01135	Ribose 5-phosphate isomerase deficiency
H01136	Carboxypeptidase N deficiency
H01137	Baylisascariasis
H01138	Hymenolepiasis
H01139	Human granulocytic anaplasmosis
H01140	Sennetsu neorickettsiosis; Sennetsu ehrlichiosis
H01141	Human monocytic ehrlichiosis
H01142	Ehrlichia ewingii infection
H01143	Vitamin D-dependent rickets
H01144	Ochrobactrum anthropi infection
H01145	Atransferrinemia; Congenital hypotransferrinemia
H01146	Aminoacylase 1 deficiency
H01147	Methylobacterium infection
H01148	Caulobacter infection
H01149	Ring dermoid of cornea
H01150	Phenylobacterium infection
H01151	Brevundimonas infection
H01152	Taenia saginata infection
H01153	Human echinococcosis
H01154	Wolff-Parkinson-White (WPW) syndrome; Preexcitation syndrome
H01155	Roussy-Levy syndrome
H01156	STAR syndrome
H01157	Agrobacterium radiobacter infection
H01158	Alopecia universalis
H01159	Anterior segment dysgenesis
H01160	Schizencephaly
H01161	Aromatic L-amino acid decarboxylase deficiency
H01162	Scott syndrome; Bleeding disorder platelet-type 7 (BDPLT7)
H01163	Corticosteroid-binding globulin (CBG) deficiency
H01164	Paracoccus yeei infection
H01165	Novosphingobium aromaticivorans infection
H01166	Sphingomonas paucimobilis infection
H01167	Granulibacter infection
H01168	Sea-blue histiocyte disease
H01169	Acetobacter infection
H01170	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
H01171	Poor drug metabolism
H01172	Infantile-onset ascending hereditary spastic paralysis
H01173	Stiff skin syndrome
H01174	Congenital diarrhea
H01175	Staphylococcal infection
H01176	Uncomplicated urinary tract infection
H01177	Infantile bilateral striatal necrosis
H01178	Myiasis
H01179	Tungiasis; Chigoe flea
H01180	Sveinsson chorioretinal atrophy (SCRA); Helicoid peripapillary chorioretinal degeneration (HPCD)
H01181	T-cell immunodeficiency congenital alopecia and nail dystrophy
H01182	Biotinidase deficiency; BTD deficiency; Late-onset multiple carboxylase deficiency
H01183	Thiamine-responsive megaloblastic anemia; Thiamine metabolism dysfunction syndrome 1
H01184	Familial dementia
H01185	Cerebral amyloid angiopathy; Hereditary cerebral hemorrhage with amyloidosis
H01186	Abnormal thyroid hormone metabolism
H01187	Tietz syndrome; Albinism-deafness syndrome
H01188	Tn syndrome
H01189	Transaldolase deficiency
H01190	Transcobalamin II deficiency
H01191	Asthma with nasal polyps and aspirin intolerance
H01192	Lysyl hydroxylase 3 deficiency; Bone fragility with contractures arterial rupture and deafness
H01193	Familial tumoral calcinosis
H01194	X-linked chondrodysplasia punctata
H01195	VACTERL/VATER association
H01196	Hypochromic microcytic anemia
H01197	Dihydrofolate reductase deficiency
H01198	Fanconi renotubular syndrome
H01199	Hyperalphalipoproteinemia
H01200	Fatal infantile cardioencephalomyopathy
H01201	Jensen syndrome; Opticoacoustic nerve atrophy
H01202	Cataract
H01203	Primary congenital glaucoma; Glaucoma 3
H01204	Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ)
H01205	Coumarin resistance; Warfarin resistance
H01206	Plasminogen deficiency
H01207	Trigonocephaly
H01208	Globozoospermia; Round-headed spermatozoa
H01209	Deafness, X-linked
H01210	Hypomagnesemia
H01211	MECP2-related severe neonatal encephalopathy
H01212	Familial encephalopathy with neuroserpin inclusion bodies
H01213	Gallbladder disease
H01214	Rh-null hemolytic anemia (RHN); Rh-deficiency syndrome
H01215	Simpson-Golabi-Behmel syndrome
H01216	Left ventricular noncompaction
H01217	Primary localized cutaneous amyloidosis
H01218	P14 deficiency
H01219	Restrictive cardiomyopathy
H01220	Congenital cataracts, facial dysmorphism, and neuropathy
H01221	Epithelial basement membrane corneal dystrophy; Cogan microcystic epithelial dystrophy; Map-dot-fingerprint dystrophy
H01222	Cowden syndrome
H01223	Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations; Chromosome 5q14.3 deletion syndrome
H01224	Ketosis-prone diabetes mellitus
H01225	D-2-hydroxyglutaric aciduria
H01226	Polysyndactyly; Preaxial polydactyly type IV
H01227	Inflammatory bowel disease (IBD)
H01228	Insulin-resistant diabetes mellitus with acanthosis nigricans; Type A insulin resistance
H01229	Inclusion body myopathy 3
H01230	Adult-onset autosomal dominant leukodystrophy
H01231	Biotin-thiamine-responsive basal ganglia disease; Thiamine metabolism dysfunction syndrome 2
H01232	Syndromic multisystem autoimmune disease
H01233	Urocanase deficiency; Urocanic aciduria
H01234	Trimethylaminuria; Fish-odor syndrome
H01235	Bleeding disorder platelet-type
H01236	Familial articular chondrocalcinosis
H01237	Sulfite oxidase deficiency
H01238	Phelan-McDermid syndrome; Chromosome 22q13.3 deletion syndrome
H01239	Combined SAP deficiency; Prosaposin deficiency
H01240	Immune thrombocytopenia; Autoimmune thrombocytopenic purpura
H01241	Congenital diaphragmatic hernia
H01242	Saccharopinuria
H01243	Huntington disease-like syndrome
H01244	T+B+Severe combined immunodeficiencies (SCIDs)
H01245	Immunodeficiency without anhidrotic ectodermal dysplasia
H01246	Isolated congenital nail clubbing; Isolated congenital digital clubbing
H01247	Pyridoxine-dependent epilepsy
H01248	Monocarboxylate transporter 1 deficiency
H01249	Ethylmalonic encephalopathy
H01250	Hereditary gingival fibromatosis
H01251	Focal cortical dysplasia of Taylor; Focal cortical dysplasia type II
H01252	Hereditary folate malabsorption
H01253	Isolated follicle-stimulating hormone deficiency
H01254	Congenital prothrombin deficiency
H01255	Juvenile-onset dystonia; Dystonia-deafness syndrome 1
H01256	Foveal hypoplasia
H01257	GABA-transaminase deficiency; 4-Aminobutyrate aminotransferase deficiency
H01258	Generalized epilepsy and paroxysmal dyskinesia
H01259	Giant axonal neuropathy
H01260	Glomerulopathy with fibronectin deposits
H01261	Congenital glucose-galactose malabsorption
H01262	Formiminotransferase deficiency
H01263	Progressive cardiac conduction defect (PCCD); Progressive familial heart block (PFHB); Lenegre-Lev disease
H01264	Hepatic venoocclusive disease with immunodeficiency
H01265	Hydrolethalus syndrome
H01266	Hypercarotenemia and vitamin A deficiency
H01267	Familial hyperinsulinemic hypoglycemia
H01268	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; HHH syndrome
H01269	Congenital hyperthyroidism
H01270	Familial hypobetalipoproteinemia
H01271	Hypoparathyroidism with sensorineural deafness and renal dysplasia; HDR syndrome; Barakat syndrome
H01272	Hypoplastic left heart syndrome
H01273	Autosomal dominant keratitis; Hereditary keratitis
H01274	Growth delay due to insulin-like growth factor I resistance; IGF-I resistance
H01275	Interleukin 1 receptor antagonist deficiency; Multifocal osteomyelitis with periostitis and pustulosis
H01276	Chronic idiopathic intestinal pseudo-obstruction; CIIP
H01277	Vitamin B12 deficiency anaemia
H01278	Iron-refractory iron deficiency anemia
H01279	Isobutyryl-CoA dehydrogenase deficiency
H01280	L-2-hydroxyglutaric aciduria
H01281	Lathosterolosis
H01282	Spermatogenic failure
H01283	Malonyl-CoA decarboxylase deficiency
H01284	Marinesco-Sjogren syndrome
H01285	Methylcobalamin deficiency type G
H01286	Microtia hearing impairment and cleft palate
H01287	Congenital mirror movements
H01288	Mosaic variegated aneuploidy syndrome
H01289	Mulibrey nanism
H01290	Acute recurrent myoglobinuria
H01291	Spheroid body myopathy; Myofibrillar myopathy 3
H01292	Nance-Horan syndrome
H01293	Narcolepsy
H01294	Nephrogenic syndrome of inappropriate antidiuresis
H01295	Neurodegeneration due to cerebral folate transport deficiency
H01296	Hereditary neuropathy with liability to pressure palsies
H01297	Neutral lipid storage disease with myopathy
H01298	Pulmonary alveolar microlithiasis
H01299	Idiopathic pulmonary fibrosis
H01301	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
H01302	Hyperchlorhidrosis isolated (HCHLH)
H01303	Hypercatabolic hypoproteinemia; Immunodeficiency 43
H01304	Hyperglycinuria
H01305	Global cerebral hypomyelination; Early infantile epileptic encephalopathy 39
H01306	FRA12A mental retardation
H01307	Nonsyndromic congenital nail disorder
H01308	Macrocephaly macrosomia facial dysmorphism syndrome
H01309	Sarcoidosis
H01310	Multi-minicore disease; Multicore myopathy with external ophthalmoplegia; Rigid spine syndrome (RSS)
H01311	Enteroinvasive Escherichia coli (EIEC) infection
H01312	Enteroaggregative Escherichia coli (EAEC) infection
H01313	Escherichia coli meningitis; Neonatal meningitis-associated Escherichia coli (NMEC) infection
H01314	Rat-bite fever; Haverhill fever
H01315	Erysipeloid; Swine erysipelas
H01316	Dermatophytosis; Ringworm
H01317	Aggressive periodontitis
H01318	Yaws
H01319	Coccidioidomycosis; Valley fever
H01320	Epidemic keratoconjunctivitis
H01321	Pneumococcal disease
H01322	Kyasanur Forest disease
H01323	Enteritis due to Norovirus
H01324	Lymphocytic choriomeningitis
H01325	Actinomycosis
H01326	Hand, foot and mouth disease
H01327	Herpangina
H01328	Aspergillosis
H01329	Paracoccidioidomycosis
H01330	Brazilian purpuric fever
H01331	Dental caries; Dental decay
H01332	Helicobacter heilmannii infection
H01333	Metabolic dysfunction-associated steatotic liver disease; Non-alcoholic fatty liver disease
H01334	Tinea versicolor; Pityriasis versicolor
H01335	Photorhabdus asymbiotica infection
H01336	Encephalitozoon infection
H01337	Laribacter hongkongensis infection
H01338	Myosclerosis
H01339	Asymptomatic bacteriuria
H01340	Bethlem myopathy
H01341	Collagen VI myopathy
H01342	Zellweger syndrome
H01343	Pantoea ananatis infection
H01344	Nijmegen breakage syndrome
H01345	Providencia stuartii infection
H01346	Bloom syndrome; MGRISCE1
H01347	MELAS syndrome; Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes
H01348	Mitochondrial phosphate carrier deficiency
H01349	Methacrylic aciduria; 3-Hydroxy-isobutyryl-CoA hydrolase deficiency
H01350	Morganella morganii infection
H01351	Spastic ataxia
H01352	Mitochondrial trifunctional protein deficiency
H01353	Chromobacterium violaceum infection
H01354	Leigh syndrome
H01355	Kearns-Sayre syndrome
H01356	Myoclonic Epilepsy and Ragged-Red Fiber Disease; MERRF syndrome; Fukuhara syndrome
H01357	Allergic contact dermatitis
H01358	Atopic dermatitis
H01359	Anaphylaxis
H01360	Allergic rhinitis
H01361	Eosinophilic esophagitis
H01362	Dermatitis herpetiformis
H01363	NARP syndrome; Neuropathy ataxia and retinis pigmentosa
H01364	3-Hydroxyacyl-CoA dehydrogenase deficiency; HADH deficiency; SCHAD deficiency
H01365	Leber hereditary optic neuropathy and dystonia
H01366	Bacterial conjunctivitis
H01367	Infantile liver failure
H01368	Cytochrome c oxidase (COX) deficiency; Mitochondrial complex IV deficiency (MT-C4D)
H01369	ATP synthase deficiency
H01370	SHORT syndrome
H01371	Hypercalcemia infantile; Idiopathic infantile hypercalcemia
H01372	Vitiligo
H01373	Achromobacter xylosoxidans infection
H01374	Helicobacter cinaedi infection
H01375	Glucose 6-phosphate dehydrogenase deficiency
H01376	Acrofacial dysostosis
H01377	Mitchell-Riley syndrome
H01378	Bosch-Boonstra optic atrophy syndrome
H01379	Arcobacter butzleri infection
H01380	Bacterial vaginosis
H01381	Antithrombin III deficiency; Inherited Antithrombin deficiency
H01382	Polyarteritis nodosa; Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome; ADA2 deficiency
H01383	Hyperlipoproteinemia type IIa; LDL receptor disorder
H01384	Mitochondrial recessive ataxia syndrome
H01385	Rienhoff syndrome
H01386	Asparagine synthetase deficiency
H01387	Activated PI3K-delta syndrome
H01388	Hyperprolactinemia
H01389	Alpers syndrome; Alpers-Huttenlocher syndrome; Diffuse cerebral sclerosis of Schilder; Hepatocerebral degeneration of childhood; Mitochondrial DNA depletion syndrome 4A
H01390	Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE Syndrome
H01391	Familial episodic pain syndrome
H01392	Arthrogryposis, mental retardation, and seizures
H01393	Van Maldergem syndrome; Cerebro-facio-articular syndrome
H01394	Cole disease
H01395	Autosomal recessive progressive external ophthalmoplegia
H01396	Moyamoya disease
H01397	Tick-borne lymphadenopathy; Tick-borne lymphadenitis
H01398	Primary hyperammonemia (Urea cycle disorders)
H01399	Bacillus thuringiensis infection
H01400	Secondary hyperammonemia
H01401	Methicillin-resistant Staphylococcus epidermidis (MRSE) infection
H01402	Nicolaides-Baraitser syndrome
H01403	Coffin-Siris syndrome
H01404	Punctate palmoplantar keratoderma
H01405	Lactococcus garvieae infection
H01406	Streptococcus suis infection
H01407	Capnocytophaga ochracea infection
H01408	Periodontal disease
H01409	Methicillin-sensitive Staphylococcus aureus (MSSA) infection
H01410	Anaerobic infection
H01411	Saccharomonospora viridis infection
H01412	Perlman syndrome
H01413	Adams-Oliver syndrome
H01414	Hafnia alvei infection
H01415	Donovanosis; Granuloma inguinale
H01416	Severe fever with thrombocytopenia syndrome
H01417	Acute encephalitis
H01418	Condyloma acuminatum; Condylomata acuminata; Genital warts
H01419	Middle East respiratory syndrome
H01420	Pharyngoconjunctival fever
H01421	Acute hemorrhagic conjunctivitis
H01422	Carbapenem-resistant bacterial infection
H01423	Penicillin-resistant Streptococcus pneumoniae infection
H01424	Group A streptococcal pharyngitis; Group A streptococcal tonsillitis; Group A streptococcal pharyngotonsillitis
H01425	Lysosomal storage disease
H01426	Invasive streptococcal disease
H01427	Mitochondrial disease
H01428	Xeroderma pigmentosum
H01429	Aseptic meningitis
H01430	Viral gastroenteritis
H01431	Cushing syndrome
H01432	Choreoacanthocytosis; Chorea-acanthocytosis
H01433	Budd-Chiari syndrome
H01434	Atypical hemolytic uremic syndrome
H01435	Congenital asplenia
H01436	Guillain-Barre syndrome
H01437	Neurofibromatosis type 1; Von Recklinghausen disease
H01438	Neurofibromatosis type 2
H01439	Williams-Beuren syndrome
H01440	Acute necrotizing ulcerative gingivitis; Vincent gingivitis; Vincent angina; Trench mouth
H01441	Pseudomonas aeruginosa infection
H01442	Septic arthritis; Pyogenic arthritis
H01443	Viridans group streptococcal infection
H01444	Enterococcal infection
H01445	Acne vulgaris
H01446	Propionibacterium acnes infection
H01447	Body dysmorphic disorder
H01448	Hoarding disorder
H01449	Excoriation disorder; Skin picking disorder
H01450	Obsessive-compulsive disorder
H01451	Actinomycetoma
H01452	Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection
H01453	Obsessive-Compulsive and Related Disorder
H01454	Colonic spirochetosis
H01455	Necrotizing fasciitis
H01456	Diabetic nephropathy
H01457	Diabetic retinopathy
H01458	Nontuberculous mycobacterial infection
H01459	Diabetic neuropathy
H01460	West syndrome; Infantile spasms
H01461	Crow-Fukase syndrome; POEMS syndrome
H01462	Rapidly growing mycobacteria infection
H01463	Mycosis fungoides
H01464	Mantle cell lymphoma
H01465	Large-vessel vasculitis
H01466	Ulcerative colitis
H01467	Primary biliary cholangitis; Primary biliary cirrhosis
H01468	Eosinophilic granulomatosis with polyangiitis; Churg-Strauss syndrome
H01469	Short bowel syndrome
H01470	Giant cell tumor of bone
H01471	Lymphangioma
H01472	Multidrug-resistant tuberculosis
H01473	Erythema nodosum leprosum
H01474	Acquired generalized lipodystrophy; Lawrence syndrome
H01475	Lipodystrophy; Lipoatrophy
H01476	Behcet disease; Behcet syndrome
H01477	Congenital short bowel syndrome
H01478	Machado-Joseph disease; Spinocerebellar ataxia 3
H01479	Castleman disease
H01480	Idiopathic macular hole; Retinal perforations
H01481	Myelodysplastic syndrome
H01482	Infantile hemangioma
H01483	Acromegaly
H01484	5q- syndrome
H01485	Autosomal recessive mental retardation-42
H01486	Multiple congenital anomalies-hypotonia-seizures syndrome
H01487	CHIME syndrome; Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome; Zunich neuroectodermal syndrome
H01488	Hyperphosphatasia with mental retardation syndrome; Mabry syndrome
H01489	Inherited glycosylphosphatidylinositol deficiencies; Glycosylphosphatidylinositol biosynthesis deficiency
H01490	Multiple sclerosis
H01491	Neuromyelitis optica; Devic disease
H01492	Systemic sclerosis; Systemic scleroderma
H01493	Localized Scleroderma; Morphea
H01494	SEMD with joint laxity type
H01495	Meniere disease
H01496	Spondyloocular syndrome
H01497	Temtamy preaxial brachydactyly syndrome
H01498	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects; Larsen-like syndrome
H01499	Sporotrichosis
H01500	Lupus nephritis
H01501	Blastomycosis
H01502	Sjogren syndrome
H01503	Zygomycosis
H01504	Vogt-Koyanagi-Harada syndrome; Vogt-Koyanagi-Harada disease; Uveomeningoencephalitic syndrome
H01505	Inclusion body myositis
H01506	Hepatic encephalopathy; Hepatic coma
H01507	Seronegative arthritis
H01508	Salivary gland cancer
H01509	Tonsillar cancer
H01510	Malignant paraganglioma
H01511	Mast-cell leukemia
H01512	Langerhans cell histiocytosis
H01513	Retinoblastoma
H01514	Landau-Kleffner syndrome
H01515	Scarlet fever; Scarlatina
H01516	Adult onset Still disease; Adult Still disease
H01517	Erysipelas
H01518	Lobomycosis; Lobo disease; Lacaziosis
H01519	Scabies
H01520	Chromomycosis; Chromoblastomycosis
H01521	Pneumocystis pneumonia; Pneumocystis carinii pneumonia
H01522	Zollinger-Ellison syndrome
H01523	Wiskott-Aldrich syndrome
H01524	DiGeorge syndrome
H01525	22q11.2 deletion syndrome; CATCH22
H01526	Legg-Calve-Perthes Disease
H01527	Chronic inflammatory demyelinating polyradiculoneuropathy
H01528	Neuroleptic malignant syndrome
H01529	Avascular necrosis of femoral head; Osteonecrosis of the femoral head
H01530	Pinta; Mal del pinto; Carate
H01531	Bejel; Endemic syphilis
H01532	Gout
H01533	Japanese encephalitis
H01534	Western equine encephalitis
H01535	Eastern equine encephalitis
H01536	Murray Valley encephalitis; Australian encephalitis
H01537	La Crosse encephalitis; California encephalitis
H01538	Hendra virus infection
H01539	Nipah virus infection
H01540	Chikungunya fever
H01541	Argentine hemorrhagic fever
H01542	Bolivian hemorrhagic fever
H01543	Venezuelan hemorrhagic fever
H01544	Brazilian hemorrhagic fever
H01545	O'nyong-nyong fever
H01546	Mayaro fever
H01547	Venezuelan equine encephalitis
H01548	West Nile fever; West Nile virus infection
H01549	Rift Valley fever
H01550	Bunyamwera fever
H01551	Interstitial cystitis; Bladder pain syndrome
H01552	Down syndrome; Trisomy 21
H01553	Zika fever; Zika virus disease
H01554	Fallopian tube cancer
H01555	Merkel cell carcinoma
H01556	Meningioma
H01557	Hepatic angiosarcoma
H01558	Parathyroid carcinoma
H01559	Oropharyngeal cancer
H01560	Alkhumra hemorrhagic fever
H01561	Chiari malformation; Arnold-Chiari syndrome
H01562	Patau syndrome; Trisomy 13
H01563	HIV infection
H01564	Edwards syndrome; Trisomy 18
H01565	Wernicke encephalopathy
H01566	Beriberi
H01567	Thiamine pyrophosphokinase deficiency; Thiamine metabolism dysfunction syndrome 5
H01568	3C syndrome; Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia
H01569	CHOPS syndrome
H01570	Autosomal dominant striatal degeneration
H01571	Singleton-Merten syndrome
H01572	Cole-Carpenter syndrome
H01573	Zimmermann-Laband syndrome
H01574	Familial idiopathic basal ganglia calcification; Bilateral striopallidodentate calcinosis (BSPDC); Fahr disease
H01575	Roifman syndrome; Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency
H01576	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI); Spondyloenchondrodysplasia (SPENCD)
H01577	Essential tremor
H01578	Subacute myelo-optico-neuropathy (SMON)
H01579	Congenital symmetric circumferential skin creases; Kunze-Riehm syndrome; Michelin tire baby syndrome
H01580	Vitamin C deficiency; Scurvy
H01581	IgA nephropathy; Berger disease
H01582	Pellagra
H01583	Hydroxykynureninuria; Xanthurenic aciduria; Kynureninase deficiency
H01584	IgA vasculitis; Henoch-Schonlein purpura
H01585	Autoimmune hemolytic anemia
H01586	Acquired pure red cell aplasia
H01587	Disseminated intravascular coagulation
H01588	Cluster headache
H01589	Systemic primary carnitine deficiency
H01590	Chronic eosinophilic leukemia
H01591	Gastrotintestinal stromal tumor
H01592	Medullary thyroid cancer
H01593	Osteoporosis
H01594	Myasthenia gravis
H01595	Cutaneous lupus erythematosus
H01596	Lambert-Eaton myasthenic syndrome
H01597	Restless legs syndrome; Willis Ekbom disease
H01598	Addison disease; Primary adrenal insufficiency; Hypoadrenocorticism
H01599	Hypereosinophilic syndrome
H01600	Parkinsonian syndrome
H01601	Anaplastic large-cell lymphoma
H01602	Gastroesophageal reflux disease
H01603	Primary aldosteronism
H01604	Polymyositis and dermatomyositis
H01605	Myelofibrosis
H01606	Polymyalgia rheumatica
H01607	Galactorrhea
H01608	Cervical dystonia; Spasmodic torticollis
H01609	Insomnia
H01610	Clonorchiasis
H01611	Alcohol dependence
H01612	Essential thrombocythemia; Essential thrombocytosis; Thrombocythemia
H01613	Follicular lymphoma
H01614	Multiple system atrophy
H01615	Irritable bowel syndrome
H01616	Spinocerebellar degeneration
H01617	Foodborne trematodiasis; Foodborne trematode infection
H01618	Pituitary gigantism
H01619	Primary pulmonary hypertension
H01620	Raynaud syndrome
H01621	Pulmonary arterial hypertension
H01622	Chronic thromboembolic pulmonary hypertension
H01623	MDPL syndrome; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
H01624	Postherpetic neuralgia
H01625	Buerger disease; Thromboangiitis obliterans
H01626	Arteriosclerosis obliterans
H01628	Opisthorchiasis
H01629	Chronic arterial occlusive disease
H01630	Patent ductus arteriosus
H01631	Acute heart failure
H01632	Angina pectoris
H01633	High blood pressure; Hypertension
H01634	Peptic ulcer
H01635	Hyperlipidemia
H01636	Fibromyalgia; Fibromyalgia syndrome
H01637	Hypertriglyceridemia
H01638	Neuropathic pain; Neuralgia
H01639	Endometriosis
H01640	Uterine leiomyoma; Fibroid
H01641	Dry eye disease; Keratoconjunctivitis sicca
H01642	Renal anemia
H01643	Chilblains; Pernio
H01644	Blepharitis
H01645	Hyperthyroidism; Thyrotoxicosis
H01646	Major depressive disorder
H01647	Subacute thyroiditis; Subacute granulomatous thyroiditis; De Quervain thyroiditis
H01648	Pemphigus
H01649	Schizophrenia
H01650	Pemphigoid
H01651	Macular edema
H01652	Seborrheic dermatitis
H01653	Bipolar disorder; Manic depressive illness
H01654	Lichen planus
H01655	Granulomatosis with polyangiitis; Wegener granulomatosis
H01656	Psoriasis
H01657	Nephrotic syndrome
H01658	Microscopic polyangiitis
H01659	Pityriasis rubra pilaris
H01660	Pityriasis rosea
H01661	Xanthoma; Xanthomatosis
H01662	Generalized anxiety disorder; Anxiety neurosis
H01663	Pustular psoriasis
H01664	Panic disorder
H01665	Primary peritoneal carcinoma
H01666	Angiosarcoma
H01667	Medulloblastoma
H01668	Neoplastic meningitis
H01669	Secondary hyperparathyroidism
H01670	Social anxiety disorder; Social phobia
H01671	Neurosis; Neurotic disorder
H01672	Juvenile idiopathic arthritis
H01673	Palmoplantar keratoderma
H01674	Ankylosing spondylitis; Bechterew disease
H01675	Syringomyelia
H01676	Normal pressure hydrocephalus
H01677	Congenital hydrocephalus
H01678	Dandy-Walker syndrome
H01679	Intrahepatic lithiasis; Intrahepatic calculosis; Hepatolithiasis
H01680	Chronic pancreatitis
H01681	Acute pancreatitis
H01682	Syndrome of inappropriate antidiuretic hormone secretion
H01683	Disorders of antidiuretic hormone (ADH) secretion
H01684	Primary sclerosing cholangitis
H01685	Autoimmune hepatitis
H01686	Idiopathic portal hypertension; Non-cirrhotic portal hypertension (NCPH); Banti syndrome
H01687	Extrahepatic portal vein obstruction; Extrahepatic portal venous obstruction
H01688	Rapidly progressive glomerulonephritis
H01689	Fisher syndrome; Miller Fisher syndrome
H01690	Lichen sclerosus et atrophicus
H01691	Renal angiomyolipoma
H01692	Subependymal giant cell astrocytoma
H01693	Eosinophilic fasciitis; Diffuse fasciitis
H01694	Stevens-Johnson syndrome; Toxic epidermal necrolysis; Lyell syndrome
H01695	Erythema multiforme
H01696	Subacute sclerosing panencephalitis
H01697	Antiphospholipid syndrome
H01698	Giant cell arteritis; Temporal arteritis
H01699	Isolated TSH deficiency
H01700	Hypopituitarism
H01701	Pituitary TSH hypersecretion; Syndrome of inappropriate secretion of TSH (SITSH)
H01702	Glucocorticoid resistance syndrome
H01703	Eating Disorders
H01704	Sudden sensorineural hearing loss
H01705	Bilateral sudden sensorineural hearing loss
H01706	Delayed endolymphatic hydrops
H01707	Ossified ligamentum flavum; Ossification of the yellow ligament
H01708	Diffuse idiopathic skeletal hyperostosis; Forestier disease; Ankylosing hyperostosis; Ossification of the anterior longitudinal ligament
H01709	Glucocorticoid-induced osteonecrosis
H01710	Mixed connective tissue disease
H01711	Spinal stenosis
H01712	Fulminant hepatic failure; Fulminant hepatitis
H01713	Diffuse panbronchiolitis
H01714	Chronic obstructive pulmonary disease (COPD); Emphysema
H01715	Obesity hypoventilation syndrome; Pickwickian Syndrome
H01716	Idiopathic interstitial pneumonias
H01717	Optic neuritis
H01718	Kawasaki disease; Mucocutaneous lymph node syndrome
H01719	Optic neuropathy
H01720	Southeast Asian ovalocytosis
H01721	Anti-glomerular basement membrane (GBM) disease; Goodpasture syndrome
H01722	Galloway-Mowat syndrome
H01723	Deep vein thrombosis
H01724	HTLV1-associated myelopathy; Tropical spastic paraparesis
H01725	Primary immunodeficiency disease
H01726	Membranoproliferative glomerulonephritis
H01727	Primary alveolar hypoventilation syndrome
H01729	Premature ventricular complexes; Premature ventricular contractions
H01730	Myocardial infarction
H01731	Fragile X tremor/ataxia syndrome
H01732	Angelman syndrome
H01733	Werner syndrome
H01734	Rothmund-Thomson syndrome
H01735	Lymphangiomatosis
H01736	Persistent truncus arteriosus
H01737	Epidermolysis bullosa
H01738	Noonan syndrome
H01739	Polycystic ovary syndrome
H01740	Macrothrombocytopenia
H01741	Autoinflammation lipodystrophy and dermatosis syndrome; Proteasome associated autoinflammatory syndromes (PRAAS); Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome; Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP); Japanese autoinflammatory syndrome with lipodystrophy (JASL)
H01742	Coronary artery disease
H01743	Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
H01744	Polyglucosan body myopathy
H01745	Cardiofaciocutaneous syndrome
H01746	STING-associated vasculopathy with onset in infancy
H01747	Costello syndrome
H01748	NLRC4 inflammasomopathy
H01749	Achondroplasia
H01750	Thanatophoric dysplasia
H01751	Weaver syndrome
H01752	ATR-X syndrome; X-linked alpha-thalassemia/mental retardation syndrome
H01753	Antley-Bixler syndrome
H01754	Crouzon syndrome
H01755	Apert syndrome
H01756	Pfeiffer syndrome
H01757	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CARASIL
H01758	Relapsing polychondritis
H01759	Autoimmune acquired factor XIII (F13) deficiency; Autoimmune hemorrhaphilia XIII/13
H01760	Hepatic glycogen storage disease
H01761	Immunoglobulin G4-related disease; Immunoglobulin G4-positive multi-organ lymphoproliferative syndrome
H01762	Muscle glycogen storage disease
H01763	Porphyria
H01764	Polysplenia syndrome
H01765	Eosinophilic sinusitis; Eosinophilic chronic rhinosinusitis
H01766	Juvenile retinoschisis
H01767	Henoch-Schonlein purpura nephritis
H01768	Central areolar choroidal dystrophy
H01769	ZTTK syndrome
H01770	Macular dystrophy
H01771	Congenital ichthyosis
H01772	Adrenal hypoplasia, congenital; X-linked addison disease
H01773	4p deletion syndrome; Wolf-Hirschhorn syndrome
H01774	Hyperostosis corticalis generalisata
H01775	PCDH19-related epilepsy syndrome; Early infantile epileptic encephalopathy 9; Epilepsy with mental retardation limited to females
H01776	Aicardi syndrome
H01777	Schwartz-Jampel syndrome
H01778	Ullrich disease; Ullrich congenital muscular dystrophy
H01779	Neuroferritinopathy
H01780	Non-dystrophic myotonia
H01781	Autophagic vacuolar myopathy
H01782	Eosinophilic gastrointestinal disorder
H01783	Ebstein anomaly
H01784	Primary hyperchylomicronemia
H01785	Tricuspid atresia
H01786	Congenitally corrected transposition of the great arteries
H01787	Univentricular heart
H01788	Klippel-Trenaunay-Weber syndrome
H01789	You-Hoover-Fong syndrome
H01790	Emanuel syndrome; Supernumerary derivative 22 syndrome
H01791	Smith-Magenis syndrome
H01792	1p36 deletion syndrome
H01793	Young-Simpson syndrome; Say-Barber-Biesecker-Young-Simpson syndrome; Say-Barber-Biesecker variant of Ohdo syndrome
H01794	Genitopatellar syndrome
H01795	Blepharophimosis-mental retardation syndrome; Ohdo syndrome
H01796	Uncombable hair syndrome; Spun glass hair syndrome; Pili trianguli et canaliculi
H01797	Webb-Dattani syndrome; Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome
H01798	Autosomal dominant neovascular inflammatory vitreoretinopathy
H01799	Vibratory urticaria; Vibratory angioedema
H01800	Verheij syndrome; Chromosome 8q24.3 deletion syndrome
H01801	Kagami-Ogata syndrome; Paternal uniparental disomy 14
H01802	Pulmonary atresia with intact ventricular septum
H01803	Pulmonary atresia with ventricular septal defect
H01804	Isaacs syndrome
H01805	Tricho-hepato-enteric syndrome; Syndromic diarrhea
H01806	Tenorio syndrome
H01807	Hereditary diffuse leukoencephalopathy with spheroids
H01808	Hemiconvulsion-hemiplegia-epilepsy syndrome
H01809	Sturge-Weber syndrome
H01810	Congenital myopathy
H01811	Arima syndrome
H01812	Rasmussen encephalitis; Rasmussen syndrome
H01813	Lennox-Gastaut syndrome
H01814	Stromme syndrome; Apple peel syndrome with microcephaly and ocular anomalies; Jejunal atresia with microcephaly and ocular anomalies
H01815	Malignant migrating partial seizures in infancy
H01816	Frank-ter Haar syndrome
H01817	Beukes hip dysplasia; Beukes type hip dysplasia
H01818	Dravet syndrome
H01819	Early myoclonic encephalopathy
H01820	Carney complex
H01821	Spondylometaphyseal dysplasia with cone-rod dystrophy
H01822	Epilepsy with myoclonic absence
H01823	Myoclonic-astatic epilepsy; Doose syndrome
H01824	CODAS syndrome; Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
H01825	Spondylometaphyseal dysplasia, Sedaghatian type
H01826	Mesial temporal lobe epilepsy with hippocampal sclerosis
H01827	Rolandic epilepsy, mental retardation, and speech dyspraxia
H01828	Opsismodysplasia
H01829	Acute encephalitis with refractory repetitive partial seizures
H01830	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
H01831	Ring chromosome 20 syndrome
H01832	Lenz-Majewski syndrome; Lenz-Majewski hyperostotic dwarfism
H01833	Hemimegalencephaly
H01834	Marshall-Smith syndrome
H01835	Neuronal migration disorder
H01836	Congenital pain insensitivity with anhidrosis
H01837	Congenital suprabulbar paresis; Worster Drought syndrome
H01838	Mandibulofacial dysostosis with microcephaly; Mandibulofacial dysostosis, Guion-Almeida type
H01839	Burn-McKeown syndrome
H01840	Moebius syndrome; Mobius syndrome
H01841	Acute encephalopathy with biphasic seizures and late reduced diffusion
H01842	Bickerstaff brainstem encephalitis
H01843	Cerebrocostomandibular syndrome
H01844	Diaphanospondylodysostosis
H01845	Catel-Manzke syndrome; Palatodigital syndrome; Hyperphalangy syndrome
H01846	Superficial siderosis
H01847	Thrombocytopenia-absent radius syndrome; TAR syndrome
H01848	Acquired idiopathic generalized anhidrosis
H01849	Peripheral arteriovenous malformation
H01850	Hartsfield syndrome; Holoprosencephaly, ectrodactyly, and cleft/lip palate
H01851	Congenital scoliosis associated with rib anomalies
H01852	Postaxial polydactyly
H01853	Chronic nonspecific multiple ulcers of the small intestine
H01854	Metacarpal 4-5 fusion
H01855	Biliary atresia
H01856	Cloacal exstrophy; Vesicointestinal fissure
H01857	Filippi syndrome; Syndactyly type 1 with microcephaly and intellectual disability
H01858	Persistent cloaca
H01859	Occipital horn syndrome
H01860	Abnormal pituitary gonadotropin secretion
H01861	Chromosome 15q24 microdeletion syndrome; Witteveen-Kolk syndrome
H01862	Hypoparathyroidism
H01863	Atopic myelitis; Eosinophilic myelitis
H01864	Excessive secretion of growth hormone
H01865	Multicentric carpotarsal osteolysis syndrome
H01866	Pulmonary veno-occlusive disease; Pulmonary capillary hemangiomatosis
H01867	Congenital anomalies of kidney and urinary tract
H01868	Mitral valve prolapse
H01869	Megacystis microcolon intestinal hypoperistalsis syndrome
H01870	Microhydranencephaly
H01871	Isolated hypoganglionosis
H01872	Microcephaly-capillary malformation syndrome
H01873	Obliterative bronchiolitis; Bronchiolitis obliterans
H01874	Cronkhite-Canada syndrome
H01875	Infantile hepatic hemangioma
H01876	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; Microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome; Chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR) syndrome
H01877	Chromosome 15q13.3 microdeletion syndrome
H01878	Al-Raqad syndrome
H01879	Wiedemann-Steiner syndrome
H01880	Autosomal recessive microcephaly and chorioretinopathy
H01881	Complex cortical dysplasia with other brain malformations
H01882	Asperger syndrome
H01883	Nestor-Guillermo progeria syndrome
H01884	Auriculocondylar syndrome; Question mark ears syndrome
H01885	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome; MPPH syndrome
H01886	Van den Ende-Gupta syndrome
H01887	3MC syndrome; Malpuech-Michels-Mingarelli-Carnevale syndrome
H01888	Carpenter syndrome
H01889	Meier-Gorlin syndrome; Ear-patella-short statute syndrome
H01890	Pattern dystrophies of the retinal pigment epithelium; Patterned macular dystrophy; Butterfly-shaped macular dystrophy
H01891	Autosomal recessive spinocerebellar ataxias
H01892	Peripheral T cell lymphoma
H01893	Lateral meningocele syndrome; Lehman syndrome
H01894	Multiple mitochondrial dysfunctions syndrome
H01895	Attention deficit hyperactivity disorder (ADHD)
H01896	Aplasia cutis congenita
H01897	Oocyte/zygote/embryo maturation arrest
H01898	PNPLA6-related disorders
H01899	Dyslexia
H01900	Encephalopathy due to defective mitochondrial and peroxisomal fission
H01901	Barrett esophagus
H01902	Brittle cornea syndrome
H01903	Brown-Vialetto-Van Laere syndrome
H01904	Microphthalmia with linear skin defects syndrome; Linear skin defects with multiple congenital anomalies; MIDAS syndrome
H01905	Trichomegaly
H01906	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
H01907	Acid-labile subunit deficiency
H01908	Carey-Fineman-Ziter syndrome
H01909	Hypoinsulinemic hypoglycemia with hemihypertrophy
H01910	Infantile myofibromatosis
H01911	Syndromic autosomal recessive mental retardation
H01912	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; CLOVE syndrome
H01913	Renpenning syndrome
H01914	Christianson syndrome
H01915	Borjeson-Forssman-Lehmann syndrome
H01916	Stocco dos Santos X-linked mental retardation syndrome
H01917	CK syndrome
H01918	Familial autosomal recessive hypercholesterolemia
H01919	Proud syndrome
H01920	Partington syndrome
H01921	MICPCH syndrome; Syndromic X-linked mental retardation, Najm type
H01922	Infantile hypotonia with psychomotor retardation and characteristic facies
H01923	Microcephaly, short stature, and impaired glucose metabolism
H01924	Sydenham chorea; Chorea minor
H01925	Transient neonatal zinc deficiency
H01926	Ventricular septal defect
H01927	Van der Woude syndrome
H01928	Smith-Kingsmore syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
H01929	2,4-Dienoyl-CoA reductase deficiency
H01930	Au-Kline syndrome
H01931	Lethal-type popliteal pterygium syndrome; Bartsocas-Papas syndrome (BPS)
H01932	Ablepharon-macrostomia syndrome
H01933	Porokeratosis
H01934	Barber-Say syndrome
H01935	Familial hypercholanemia
H01936	Hyperbiliverdinemia
H01937	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly; Hydranencephaly with renal aplasia-dysplasia
H01938	Hypermanganesemia with dystonia
H01939	Glycogen storage disease type I; Von Gierke disease
H01940	Glycogen storage disease type II; Pompe disease
H01941	Glycogen storage disease type III; Cori disease; Forbes disease
H01942	Glycogen storage disease type IV; Andersen disease
H01943	Glycogen storage disease type V; McArdle disease
H01944	Glycogen storage disease type VI; Hers disease
H01945	Glycogen storage disease type VII; Tarui disease
H01946	Glycogen storage disease type XI; Lactate dehydrogenase A deficiency
H01947	Fanconi-Bickel syndrome
H01948	Glycogen storage disease type IX; Phosphorylase kinase deficiency
H01949	Glycogen storage disease type 0b; Muscle glycogen synthase deficiency
H01950	Glycogen storage disease type 0a; Liver glycogen synthase deficiency
H01951	Glycogen storage disease type X
H01952	Glycogen storage disease type XII
H01953	Glycogen storage disease type XIII
H01954	Glycogen storage disease type XIV; Congenital disorder of glycosylation type It
H01955	Glycogen storage disease type XV
H01956	Glycogen storage disease of heart
H01957	Fukuyama congenital muscular dystrophy
H01958	Merosin-deficient congenital muscular dystrophy
H01959	Muscular dystrophy-dystroglycanopathy type C
H01960	Muscular dystrophy-dystroglycanopathy type B
H01961	Congenital muscular dystrophy type 1C
H01962	Congenital muscular dystrophy type 1D
H01963	Duchenne muscular dystrophy
H01964	Becker muscular dystrophy
H01965	Miyoshi muscular dystrophy; Miyoshi myopathy
H01966	Cartilage-hair hypoplasia; Metaphyseal dysplasia, McKusik type
H01967	Anauxetic dysplasia
H01968	Hyper-IgE syndrome; Job syndrome; Buckley syndrome
H01969	X-linked lymphoproliferative syndrome; Duncan disease
H01970	Lymphoproliferative syndrome
H01971	IPEX syndrome; Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
H01972	Autoimmune polyendocrinopathy syndrome type 1; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
H01973	Fertile eunuch syndrome; Hypogonadotropic hypogonadism-23 without anosmia (HH23)
H01974	Limb-girdle muscular dystrophy 2B
H01975	Welander distal myopathy
H01976	Tibial muscular dystrophy
H01977	Laing distal myopathy; Myopathy, distal 1 (MPD1)
H01978	Dehydrated hereditary stomatocytosis; Hereditary xerocytosis
H01979	Overhydrated hereditary stomatocytosis; Hereditary xerocytosis
H01980	SCAD deficiency; Short-chain acyl-CoA dehydrogenase deficiency; ACADS deficiency
H01981	Carnitine palmitoyltransferase I deficiency
H01982	Carnitine palmitoyltransferase II deficiency
H01983	Carnitine-acylcarnitine translocase deficiency
H01984	Leopard syndrome
H01985	Desmoplastic small round cell tumor
H01986	Legius syndrome
H01987	Familial dysautonomia; Riley-Day syndrome; Hereditary sensory and autonomic neuropathy type 3
H01988	Jackson-Weiss syndrome
H01989	Beare-Stevenson syndrome; Beare-Stevenson cutis gyrata syndrome
H01990	Muenke syndrome; Muenke craniosynostosis
H01991	Saethre-Chotzen syndrome
H01992	Craniofrontonasal syndrome; Craniofrontonasal dysplasia
H01993	Baller-Gerold syndrome
H01994	Myoclonic epilepsy of Lafora; Lafora disease
H01995	Unverricht-Lundborg disease; Epilepsy, progressive myoclonic 1
H01996	Pyruvate dehydrogenase phosphatase deficiency
H01997	Pyruvate dehydrogenase E1-alpha deficiency
H01998	Pyruvate dehydrogenase E1-beta deficiency
H01999	Pyruvate dehydrogenase E2 deficiency
H02000	Dihydrolipoamide dehydrogenase deficiency; E3 deficiency; Maple syrup urine disease type III
H02001	Familial pseudohyperkalemia
H02002	Cryohydrocytosis
H02003	Pyruvate dehydrogenase E3-binding protein deficiency; Lacticacidemia due to PDX1 deficiency
H02004	Fumarase deficiency; Fumaric aciduria
H02005	Mitochondrial complex II deficiency; Succinate dehydrogenase deficiency; Succinate CoQ reductase deficiency
H02006	Alpha-ketoglutarate dehydrogenase complex deficiency
H02007	GRACILE syndrome; Fellman syndrome; Finnish lethal neonatal metabolic syndrome
H02008	Galactose-1P uridylyltransferase deficiency; Classic galactosemia; Galactosemia type I
H02009	Galactokinase deficiency; Galactosemia II
H02010	Galactose epimerase deficiency; Galactosemia III
H02011	Familial juvenile hyperuricemic nephropathy
H02012	Medullary cystic kidney disease
H02013	Glycerol kinase deficiency
H02014	Ataxia-telangiectasia-like syndrome
H02015	LIG4 syndrome
H02016	Tay-Sachs disease; GM2 gangliosidoses type I
H02017	Sandhoff disease; GM2 gangliosidoses type II
H02018	Central precocious puberty
H02019	Familial male-limited precocious puberty; Familial testotoxicosis; Gonadotropin-independent familial sexual precocity
H02020	Aromatase deficiency
H02021	Chediak-Higashi syndrome
H02022	Griscelli syndrome
H02023	Baraitser-Winter syndrome
H02024	Neutrophil specific granule deficiency
H02025	Myeloperoxidase deficiency
H02026	Familial hypocalciuric hypercalcemia
H02027	Male hypogonadism
H02028	Filariasis
H02029	Mycobacterium avium complex (MAC) pulmonary disease
H02030	Neonatal hyperparathyroidism
H02031	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
H02032	Entomophthoramycosis
H02033	Mucormycosis
H02034	Central hypothyroidism and testicular enlargement
H02035	Isolated growth hormone deficiency
H02036	Combined pituitary hormone deficiency
H02037	Laron syndrome; Growth hormone insensitivity syndrome; Pituitary dwarfism II
H02038	X-linked panhypopituitarism
H02039	Kowarski syndrome
H02040	Insulin-like growth factor I deficiency
H02041	Myopia
H02042	Familial expansile osteolysis
H02043	Capillary malformation-arteriovenous malformation
H02044	Cutaneous and mucosal venous malformation; Mucocutaneous venous malformation
H02045	Norrie disease
H02046	OFC syndrome; Oto-facio-cervical syndrome
H02047	Bohring-Opitz syndrome
H02048	Larsen syndrome
H02049	Bilateral macronodular adrenal hyperplasia
H02050	Prepubertal periodontitis
H02051	May-Hegglin anomaly
H02052	Sebastian syndrome
H02053	Fechtner syndrome
H02054	Crigler-Najjar syndrome
H02055	Gilbert syndrome
H02056	Dubin-Johnson syndrome
H02057	Rotor syndrome
H02058	Kohlschutter-Tonz syndrome
H02059	Leptin deficiency
H02060	Leptin receptor deficiency
H02061	Estrogen resistance syndrome
H02062	Familial digital arthropathy-brachydactyly
H02063	Diastrophic dysplasia
H02064	Atelosteogenesis type I and III
H02065	Achondrogenesis type IB; Achondrogenesis, Fraccaro type
H02066	Achondrogenesis type II; Achondrogenesis, Langer-Saldino type
H02067	Boomerang dysplasia
H02068	Hypochondroplasia
H02069	SADDAN; Severe achondroplasia with developmental delay and acanthosis nigricans
H02070	Kniest dysplasia
H02071	Czech dysplasia
H02072	Stickler syndrome
H02073	Wagner syndrome
H02074	Knobloch syndrome
H02075	Enhanced S-cone syndrome
H02076	Bacteroides infection
H02077	Snowflake vitreoretinal degeneration
H02078	Vitreoretinochoroidopathy
H02079	Oto-spondylo-megaepiphyseal dysplasia; OSMED; Weissenbacher-Zweymuller syndrome
H02080	Fibrochondrogenesis
H02081	Marshall syndrome
H02082	Floating-Harbor syndrome
H02083	Focal facial dermal dysplasia
H02084	Native American myopathy
H02085	Acyl-CoA dehydrogenase 9 deficiency
H02086	Mitochondrial complex III deficiency
H02087	Vertebral, cardiac, renal, and limb defects syndrome; Congenital NAD deficiency disorder
H02088	Primary intraosseous vascular malformation; Primary intraosseous hemangioma
H02089	Winchester syndrome
H02090	Trehalase deficiency
H02091	Jervell and Lange-Nielsen syndrome
H02092	von Willebrand disease
H02093	Platelet-type von Willebrand disease; Pseudo-von Willebrand disease
H02094	Carvajal syndrome; Dilated cardiomyopathy with woolly hair and keratoderma
H02095	Perrault syndrome
H02096	Peroxisomal acyl-CoA oxidase deficiency
H02097	Gray platelet syndrome; Bleeding disorder platelet-type 4
H02098	D-bifunctional protein deficiency; DBP deficiency; Bifunctional enzyme deficiency
H02099	Alpha-methylacyl-CoA racemase deficiency; AMACR deficiency
H02100	Peroxisomal fatty acyl-CoA reductase 1 disorder
H02101	Autosomal dominant sensory ataxia
H02102	Myhre syndrome
H02103	DeSanto-Shinawi syndrome
H02104	Megalocornea; X-linked megalocornea
H02105	Prohormone convertase 1/3 deficiency
H02106	Genetic obesity
H02107	Bietti crystalline corneoretinal dystrophy
H02108	Basal laminar drusen
H02109	Combined malonic and methylmalonic aciduria
H02110	Doyne honeycomb retinal dystrophy; Malattia leventinese
H02111	Autism; Autistic spectrum disorder; Pervasive developmental disorder
H02112	Persistent hyperplastic primary vitreous; Persistent fetal vasculature
H02113	Infantile cerebellar-retinal degeneration
H02114	Spastic paraplegia, optic atrophy, and neuropathy
H02115	Congenital aural atresia
H02116	Phosphoserine phosphatase deficiency
H02117	Neu-Laxova syndrome
H02118	Agnathia-otocephaly complex; Otocephaly
H02119	Proteus syndrome
H02120	Anencephaly
H02121	Koolen-De Vries syndrome; Chromosome 17q21.31 deletion syndrome; Microdeletion 17q21.31 syndrome
H02122	Chronic atrial and intestinal dysrhythmia; CAID syndrome
H02123	Celiac disease
H02124	Interstitial lung and liver disease; Hereditary pulmonary alveolar proteinosis with hepatic involvement
H02125	Cardiac conduction disease with or without dilated cardiomyopathy
H02126	Mandibulofacial dysostosis with alopecia
H02127	Yunis-Varon syndrome
H02128	Defects in lysosomal trafficking
H02129	Prune belly syndrome; Triad syndrome; Eagle-Barret syndrome; Abdominal musculature deficiency syndrome
H02130	Mucolipidosis III; Pseudo-Hurler polydystrophy
H02131	UV-sensitive syndrome
H02132	Microcephaly syndrome
H02133	Vici syndrome; Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
H02134	Microphthalmia with limb anomalies; Anophthalmia-syndactyly syndrome; Waardenburg anophthalmia syndrome; Ophthalmoacromelic syndrome
H02135	Cone-rod dystrophy and hearing loss
H02136	Branched-chain ketoacid dehydrogenase kinase deficiency; BCKDK deficiency
H02137	Laurence-Moon syndrome
H02138	Hereditary hypophophatemic rickets with hypercalciuria
H02139	Autosomal recessive hypophosphatemic rickets
H02140	Boucher-Neuhauser syndrome
H02141	Autosomal dominant hypophosphatemic rickets
H02142	X-linked recessive hypophosphatemic rickets
H02143	X-linked dominant hypophosphatemic rickets
H02144	Gordon Holmes syndrome; Cerebellar ataxia and hypogonadotropic hypogonadism
H02145	Calcium oxalate nephrolithiasis; Calcium oxalate urolithiasis
H02146	Glass syndrome; Chromosome 2q32-q33 deletion syndrome; SATB2-associated syndrome
H02147	X-linked recessive nephrolithiasis with renal failure
H02148	Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis
H02149	X-linked hypercalciuric nephrolithiasis
H02150	Infantile or early childhood epileptic encephalopathy
H02151	Hereditary congenital facial paresis
H02152	Transient familial neonatal hyperbilirubinemia; Lucey-Driscoll syndrome
H02153	Megalencephaly-capillary malformation syndrome; MCAP syndrome
H02154	Omodysplasia
H02155	Dyssegmental dysplasia
H02156	Lamb-Shaffer syndrome; 12p12.1 microdeletion syndrome
H02157	Short-rib thoracic dysplasia
H02158	Weyers acrofacial dysostosis; Curry-Hall syndrome
H02159	Familial cold autoinflammatory syndrome; Familial cold urticaria
H02160	Craniosynostoses
H02161	Greig cephalopolysyndactyly syndrome
H02162	Viral hepatitis
H02163	Oropouche fever
H02164	Sandfly fever
H02165	Colorado tick fever
H02166	Saint Louis encephalitis
H02167	Lymphedema-distichiasis syndrome
H02168	Hypotrichosis-lymphedema-telangiectasia syndrome
H02169	Hennekam lymphangiectasia-lymphedema syndrome
H02170	Microphthalmia, syndromic
H02171	Rocio viral encephalitis
H02172	Nanophthalmos
H02173	Arenaviral hemorrhagic fever
H02174	Sudden infant death with dysgenesis of the testes syndrome
H02175	Hypospadias
H02176	Cryptorchidism
H02177	Androgen insensitivity syndrome
H02178	MASA syndrome; X-linked hereditary spastic paraplegia
H02179	Rippling muscle disease
H02180	McKusick-Kaufman syndrome
H02181	Idiopathic hyperCKemia; Elevated serum creatine phosphokinase
H02182	Distal myopathy, Tateyama type
H02183	Parastremmatic dwarfism; Parastremmatic dysplasia
H02184	Metatropic dysplasia
H02185	Spondylometaphyseal dysplasia
H02186	Spondyloepiphyseal dysplasia, Maroteaux type; Pseudo-Morquio syndrome type 2
H02187	Spondyloepimetaphyseal dysplasia
H02188	Watson syndrome; Pulmonary valvular stenosis with cafe au lait spots
H02189	Neurofibromatosis-Noonan syndrome
H02190	CBL syndrome; Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
H02191	Noonan-like syndrome with loose anagen hair
H02192	Benign recurrent intrahepatic cholestasis
H02193	Intrahepatic cholestasis of pregnancy; Obstetric cholestasis
H02194	North American Indian childhood cirrhosis
H02195	MEHMO syndrome
H02196	X-linked creatine deficiency syndrome
H02197	Mitochondrial pyruvate carrier deficiency
H02198	Pancreatic agenesis and congenital heart disease; Pancreatic hypoplasia diabetes heart disease; Yorifuji-Okuno syndrome
H02199	Congenital heart defects, multiple type
H02200	Leukoencephalopathy, progressive, with ovarian failure; Ovarioleukodystrophy
H02201	Mitochondrial myopathy with lactic acidosis
H02202	Oblique facial cleft
H02203	Optic nerve hypoplasia
H02204	Hereditary hyperferritinaemia-cataract syndrome; Bonneau-Beaumont syndrome
H02205	Mucopolysaccharidosis-plus syndrome
H02206	Aceruloplasminemia; Ceruloplasmin deficiency
H02207	Kufor-Rakeb syndrome; Parkinson disease 9
H02208	Pantothenate kinase-associated neurodegeneration; Hallervorden-Spatz disease; Neurodegeneration with brain iron accumulation 1
H02209	HARP syndrome
H02210	Acromelic frontonasal dysostosis
H02211	Acrodysostosis
H02212	Familial infantile myoclonic epilepsy
H02213	Familial adult myoclonic epilepsy; Benign adult familial myoclonic epilepsy
H02214	Familial focal epilepsy with variable foci
H02215	Childhood absence epilepsy
H02216	Juvenile absence epilepsy
H02217	Juvenile myoclonic epilepsy
H02218	DOORS syndrome; Eronen syndrome; Digitorenocerebral syndrome
H02219	DDOD syndrome; Dominant deafness-onychodystrophy
H02220	MEDNIK syndrome; Erythrokeratodermia variabilis type 3
H02221	Methylmalonic aciduria and homocystinuria
H02222	Methylmalonic acidemia and hyperhomocysteinemia, cblX type
H02223	Osteocraniostenosis; Gracile bone dysplasia
H02224	Grange syndrome
H02225	Familial cirrhosis
H02226	Cardiospondylocarpofacial syndrome; Forney syndrome
H02227	Frontometaphyseal dysplasia
H02228	Acromicric dysplasia
H02229	Terminal osseous dysplasia; Terminal osseous dysplasia and pigmentary defects
H02230	X-linked cardiac valvular dysplasia; X-linked myxomatous valvular dystrophy
H02231	Optic disc anomalies with retinal and/or macular dystrophy
H02232	CAGSSS syndrome; Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
H02233	Alazami syndrome
H02234	Hamamy syndrome
H02235	Morbid obesity and spermatogenic failure
H02236	Keppen-Lubinsky syndrome
H02237	AMP deaminase deficiency
H02238	Spinal muscular atrophy with congenital bone fractures
H02239	Ehlers-Danlos syndrome, spondylodysplastic type
H02240	Ehlers-Danlos syndrome periodontal type
H02241	Ehlers-Danlos syndrome cardiac valvular type
H02242	Ehlers-Danlos syndrome vascular type; Ehlers-Danlos syndrome type IV
H02243	Ehlers-Danlos syndrome arthrochalasia type
H02244	Ehlers-Danlos syndrome dermatosparaxis type; Ehlers-Danlos syndrome type VIIC
H02245	Ehlers-Danlos syndrome kyphoscoliosis type
H02246	Ehlers-Danlos syndrome musculocontractural type
H02247	Ehlers-Danlos syndrome myopathic type; Bethlem myopathy 2
H02248	MEND syndrome
H02249	Primrose syndrome
H02250	Early-onset vitamin B6-dependent epilepsy
H02251	Cerebroretinal microangiopathy with calcifications and cysts; Coats plus syndrome
H02252	PEHO syndrome
H02253	Beaulieu-Boycott-Innes syndrome
H02254	Craniosynostosis and dental anomalies
H02255	FDLAB syndrome; Traboulsi syndrome
H02256	Factor VII deficiency; Hypoproconvertinemia
H02257	Factor X deficiency
H02258	Tubular aggregate myopathy
H02259	Stormorken syndrome
H02260	Chondrodysplasia Chassaing-Lacombe type; Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
H02261	PEBAT; Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum
H02262	PEBEL; Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy
H02263	Focal nonepidermolytic palmoplantar keratoderma
H02264	Palmoplantar keratoderma, Nagashima type
H02265	Annular epidermolytic ichthyosis; Cyclic ichthyosis with epidermolytic hyperkeratosis
H02266	Palmoplantar keratoderma, Bothnian type
H02267	Wilson-Turner syndrome
H02268	Wieacker-Wolff syndrome
H02269	Familial ventricular tachycardia
H02270	Cavitary optic disc anomalies
H02271	Cerebellofaciodental syndrome
H02272	CAPOS syndrome
H02273	Nonprogressive cerebellar ataxia with mental retardation
H02274	Cerebellar atrophy, visual impairment, and psychomotor retardation
H02275	Batten disease; Neuronal ceroid lipofuscinosis-3 (CLN3); Juvenile neuronal ceroid lipofuscinoses (JNCL)
H02276	Kufs disease; Adult-onset neuronal ceroid lipofuscinosis
H02277	Santavuori-Haltia disease; Neuronal ceroid lipofuscinosis-1 (CLN1); Infantile neuronal ceroid lipofuscinosis
H02278	Jansky-Bielschowsky disease; Late infantile neuronal ceroid lipofuscinosis
H02279	Neuronal ceroid lipofuscinosis due to Cathepsin D deficiency; Neuronal ceroid lipofuscinosis-10 (CLN10)
H02280	Complex lethal osteochondrodysplasia; Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type
H02281	Isolated anhidrosis with normal sweat glands; Dann-Epstein-Sohar syndrome
H02282	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
H02283	IVIC syndrome
H02284	Leukotriene C4 synthase deficiency
H02285	Methylmalonate semialdehyde dehydrogenase deficiency
H02286	Congenital deafness with inner ear agenesis, microtia, and microdontia; Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM)
H02287	Deafness, dystonia, and cerebral hypomyelination
H02288	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
H02289	Retinal dystrophy with or without extraocular anomalies
H02290	Retinal dystrophy and iris coloboma with or without congenital cataract
H02291	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
H02292	Retinal dystrophy, juvenile cataracts, and short stature syndrome
H02293	Spastic paraplegia-psychomotor retardation-seizures syndrome
H02294	Tatton-Brown-Rahman syndrome
H02295	Adermatoglyphia
H02296	Basan syndrome; Ectodermal dysplasia absent dermatoglyphics
H02297	CLAPO syndrome
H02298	Macrocephaly, dysmorphic facies, and psychomotor retardation
H02299	Arthrogryposis multiplex congenita
H02300	Steel syndrome
H02301	Nephroblastoma; Wilms tumor
H02302	Hepatoblastoma
H02303	Alopecia-mental retardation syndrome
H02304	Combined D-2- and L-2-hydroxyglutaric aciduria
H02305	RERE-related neurodevelopmental syndrome; Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
H02306	Chondrodysplasia with joint dislocations, GPAPP type
H02307	Muscular dystrophy-dystroglycanopathy
H02308	Immunodeficiency-centromeric instability-facial anomalies syndrome
H02309	Adenosine deaminase deficiency
H02310	Renal tubular acidosis
H02311	Molybdenum cofactor deficiency
H02312	Glutathione synthetase deficiency
H02313	5-Oxoprolinase deficiency
H02314	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
H02315	Disordered steroidogenesis due to cytochrome P450 oxidoreductase
H02316	Adrenal insufficiency, NR5A1 related
H02317	SERKAL syndrome
H02318	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
H02319	IMAGE syndrome
H02320	Vacuolar myopathy with CASQ1 aggregates
H02321	Early-onset myopathy, areflexia, respiratory distress, and dysphagia
H02322	Amyloidosis, Finnish type; Meretoja syndrome; Amyloid cranial neuropathy with lattice corneal dystrophy
H02323	Ruijs-Aalfs syndrome
H02324	Sacral agenesis with vertebral anomalies
H02325	Schaaf-Yang syndrome
H02326	Keipert syndrome; Nasodigitoacoustic syndrome
H02327	KBG syndrome
H02328	Sifrim-Hitz-Weiss syndrome
H02329	Hepatic lipase deficiency
H02330	Pancreatic lipase deficiency
H02331	Gastrointestinal defects and immunodeficiency syndrome; Combined immunodeficiency with multiple intestinal atresia
H02332	Preaxial polydactyly
H02333	Laurin-Sandrow syndrome
H02334	Pierpont syndrome
H02335	Preimplantation embryonic lethality
H02336	Deafness, Y-linked
H02337	Skraban-Deardorff syndrome
H02338	PEHO-like syndrome
H02339	Auditory neuropathy
H02340	Absorptive hypercalciuria
H02341	Goldmann-Favre syndrome
H02342	Frontotemporal dementia and amyotrophic lateral sclerosis
H02343	EVEN-plus syndrome
H02344	Cowchock syndrome; X-linked Charcot-Marie-Tooth disease type 4
H02345	Autosomal recessive peripheral neuropathy
H02346	Intellectual developmental disorder with short stature
H02347	Thauvin-Robinet-Faivre syndrome
H02348	Dentin dysplasia
H02349	Odontochondrodysplasia; Goldblatt syndrome
H02350	Dyschromatosis universalis hereditaria
H02351	Cowpox
H02352	Vaccinia
H02353	Hyperekplexia and epilepsy; Early infantile epileptic encephalopathy-8
H02354	Orf; Contagious pustular dermatitis; Contagious ecthyma
H02355	Deafness and myopia
H02356	PCWH syndrome; Waardenburg-Shah syndrome, neurologic variant
H02357	Congenital hypomyelinating neuropathy
H02358	Arthrogryposis multiplex congenita, neurogenic, with myelin defect
H02359	Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 3
H02360	Epileptic encephalopathy, childhood-onset
H02361	Myoclonic-atonic epilepsy
H02362	Benign familial infantile seizure
H02363	Ververi-Brady syndrome
H02364	Heart and brain malformation syndrome
H02365	Helsmoortel-van der Aa syndrome; Mental retardation, autosomal dominant 28
H02366	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
H02367	Chorea, childhood-onset, with psychomotor retardation
H02368	Developmental delay with short stature, dysmorphic facial features, and sparse hair
H02369	IMAGE-I syndrome
H02370	FILS syndrome
H02371	Intellectual developmental disorder with autism and speech delay
H02372	Cystoisosporiasis; Isosporiasis
H02373	Sarcocystosis
H02374	Blastocystosis
H02375	Cardiac valvular dysplasia
H02376	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
H02377	Leukodystrophy and acquired microcephaly with or without dystonia
H02378	Hypotonia, ataxia, and delayed development syndrome
H02379	Rickettsialpox
H02380	D-glyceric aciduria
H02381	Cleft palate, psychomotor retardation, and distinctive facial features
H02382	Bainbridge-Ropers syndrome
H02383	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
H02384	Abdominal obesity-metabolic syndrome; Metabolic syndrome X
H02385	Eumycetoma
H02386	Phaeohyphomycosis
H02387	Snijders Blok-Fisher syndrome
H02388	Infantile-onset limb and orofacial dyskinesia
H02389	Familial dyskinesia with facial myokymia
H02390	Autosomal recessive neuromyotonia and axonal neuropathy
H02391	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
H02392	Scedosporiosis; Pseudoallescheriosis
H02393	Talaromycosis; Penicilliosis
H02394	Cleft palate, cardiac defects, and mental retardation
H02395	Calvarial doughnut lesions with bone fragility
H02396	Corpus callosum agenesis with facial anomalies and cerebellar ataxia
H02397	Neurodevelopmental disorder with movement abnormalities or hypotonia
H02398	COVID-19; Coronavirus disease 2019
H02399	Primary amoebic meningoencephalitis (PAM)
H02400	Rhinosporidiosis
H02401	Acanthamoebiasis
H02402	Thyroid eye disease; Graves ophthalmopathy
H02403	Angiostrongyliasis
H02404	Capillariasis
H02405	Oesophagostomiasis
H02406	Syngamosis
H02407	Trichostrongyliasis
H02408	Dipylidiasis
H02409	Dicrocoeliasis
H02410	Myelodysplastic/myeloproliferative neoplasms
H02411	Chronic myelomonocytic leukemia
H02412	Atypical chronic myeloid leukemia
H02413	Epidemic myalgia; Epidemic pleurodynia; Bornholm disease
H02414	Autoinflammation, panniculitis, and dermatosis syndrome
H02415	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome; Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development
H02416	Cimicosis
H02417	Gingival fibromatosis with hypertrichosis; Congenital generalized hypertrichosis with or without gingival hyperplasia (HTC3)
H02418	Non-Hodgkin lymphoma
H02419	Glycine encephalopathy with normal serum glycine
H02420	Head and neck cancer
H02421	Solid tumor
H02422	Retinitis pigmentosa with skeletal anomalies
H02423	Phthiriasis; Phthiriasis pubis; Pubic lice infestation
H02424	Primary central nervous system lymphoma
H02425	Erdheim-Chester disease
H02426	EDICT syndrome
H02427	Soft tissue sarcomas
H02428	Trichosporonosis
H02429	Actinic keratosis
H02430	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
H02431	Cerebellar hypoplasia, epilepsy, and global developmental delay
H02432	Butyrylcholinesterase deficiency
H02433	Hypomyelination with brainstem and spinal cord involvement and leg spasticity
H02434	Diffuse large B-cell lymphoma, not otherwise specified
H02435	Deafness-infertility syndrome
H02436	Al-Gazali syndrome
H02437	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
H02438	Hyperglycinemia, lactic acidosis, and seizures
H02439	Short stature, developmental delay, congenital heart defect
H02440	Fleck retina, familial benign
H02441	HUPRA syndrome
H02442	Common cold
H02444	Luscan-Lumish syndrome
H02445	Microcornea, myopic chorioretinal atrophy, and telecanthus
H02446	Autosomal recessive macrocephaly/megalencephaly syndrome
H02447	Myopathy with extrapyramidal signs
H02448	Harel-Yoon syndrome
H02449	Autosomal dominant lamellar ichthyosis
H02450	Horizontal gaze palsy with progressive scoliosis
H02451	Congenital disorder of glycosylation with defective fucosylation
H02452	Muscle hypertrophy
H02453	Congenital heart defects and ectodermal dysplasia
H02454	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
H02455	Congenital heart defects, hamartomas of tongue, and polysyndactyly; Ostravik-Lindemann-Solberg syndrome
H02456	Ectodermal dysplasia
H02457	Developmental delay, leukoencephalopathy, and neurologic decompensation
H02458	Hydrocephalus due to congenital stenosis of aqueduct of Sylvius; X-linked hydrocephalus
H02459	Syndromic neurodevelopmental disorder
H02460	Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies
H02461	Neurodevelopmental disorder with microcephaly
H02462	Spondyloepiphyseal dysplasia
H02463	Syndromic intellectual developmental disorder
H02464	Poretti-Boltshauser syndrome
H02465	Weiss-Kruszka syndrome
H02466	Rajab interstitial lung disease with brain calcification
H02467	Neonatal inflammatory skin and bowel disease
H02468	Early childhood-onset progressive leukodystrophy
H02469	Cone-rod synaptic disorder
H02470	Neurodevelopmental disorder with structural brain abnormalities
H02471	Brain malformations with urinary tract defects
H02472	Early-onset progressive encephalopathy
H02473	Leukoencephalopathy, brain calcifications, and cysts; Labrune syndrome
H02474	Blepharocheilodontic syndrome
H02475	Retinoschisis
H02476	Childhood-onset neurodegeneration with brain atrophy
H02477	Cohen-Gibson syndrome
H02478	CATIFA syndrome
H02479	Nivelon-Nivelon-Mabille syndrome
H02480	Fontaine progeroid syndrome
H02481	Syndromic disorder with short stature
H02482	ROSAH syndrome
H02483	Basel-Vanagaite-Smirin-Yosef syndrome
H02484	X-linked reticulate pigmentary disorder with systemic manifestations
H02485	Extraoral halitosis due to MTO deficiency
H02486	HELIX syndrome
H02487	Diencephalic-mesencephalic junction dysplasia syndrome
H02488	Cardiac-urogenital syndrome
H02489	Mild encephalopathy with reversible myelin vacuolization
H02490	Gabriele-de Vries syndrome
H02491	Immunoskeletal dysplasia with neurodevelopmental abnormalities
H02492	Microcephaly, growth restriction, and increased sister chromatid exchange
H02493	Al Kaissi syndrome
H02494	Alkuraya-Kucinskas syndrome
H02495	Congenital megabladder
H02496	Cerebellar, ocular, craniofacial, and genital syndrome
H02497	Smith-McCort dysplasia
H02498	Diabetic cardiomyopathy
H02499	AL amyloidosis; Immunoglobulin light chain amyloidosis
H02500	Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
H02501	Occipital cortical malformation
H02502	Joint laxity, short stature, and myopia
H02503	Richieri-Costa-Pereira syndrome
H02504	Gastrointestinal ulceration, recurrent, with dysfunctional platelets
H02505	Atherosclerosis
H02506	Cardioacrofacial dysplasia
H02507	Pilarowski-Bjornsson syndrome
H02508	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
H02509	Vesicular stomatitis fever
H02510	Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis
H02511	Jamestown Canyon encephalitis
H02512	Cache Valley virus infection
H02513	Oculopharyngodistal myopathy
H02514	Lacrimal duct defect
H02515	Li-Ghorbani-Weisz-Hubshman syndrome
H02516	Alcoholic liver disease
H02517	Olmsted syndrome
H02518	Neonatal severe encephalopathy with lactic acidosis and brain abnormalities
H02519	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
H02520	Phosphoenolpyruvate carboxykinase deficiency
H02521	Diets-Jongmans syndrome
H02522	Imagawa-Matsumoto syndrome
H02523	Genitourinary and/or brain malformation syndrome
H02524	Ataxia-pancytopenia syndrome
H02525	Disorders of innate immunity
H02526	Disorders of adaptive immunity
H02527	Lipid storage myopathy due to FLAD1 deficiency
H02528	Hao-Fountain syndrome
H02529	Bone marrow failure syndrome
H02530	Hereditary prostate cancer
H02531	Familial breast-ovarian cancer
H02532	Proteasome-associated autoinflammatory syndrome
H02533	Kaufman oculocerebrofacial syndrome
H02534	Y-linked spermatogenic failure
H02535	Neurodevelopmental disorder with dysmorphic facies
H02536	Infection-induced acute encephalopathy
H02537	Autoinflammation, immune dysregulation, and eosinophilia
H02538	Pheochromocytoma/paraganglioma syndrome
H02539	Intervertebral disc disease
H02540	Infantile-onset multisystem autoimmune disease
H02541	Juvenile myelomonocytic leukemia
H02542	Acute promyelocytic leukemia
H02543	Acromesomelic dysplasia
H02544	Riboflavin deficiency
H02545	Hypertryptophanemia
H02546	Hypervalinemia and hyperleucine-isoleucinemia
H02547	BRENS syndrome
H02548	CIMDAG syndrome
H02549	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
H02550	Birk-Landau-Perez syndrome
H02551	Skeletal dysplasia with joint laxity and advanced bone age
H02552	Ataxia, intention tremor, and hypotonia syndrome
H02553	Visceral myopathy
H02554	Omenn syndrome
H02555	Muckle-Wells syndrome
H02556	CINCA syndrome; Chronic infantile neurologic cutaneous and articular syndrome
H02557	Dopa-responsive dystonia
H02558	Craniotubular dysplasia, Ikegawa type
H02559	Microvascular complications of diabetes
H02560	White-Kernohan syndrome
H02561	Familial autoinflammatory syndrome with or without immunodeficiency
H02562	Yoon-Bellen neurodevelopmental syndrome
H02563	Neural tube defects
H02564	Generalized epilepsy with febrile seizures plus
H02565	Hereditary nonpolyposis colorectal cancer
H02566	Muir-Torre syndrome
H02567	Sorbitol dehydrogenase deficiency with peripheral neuropathy
H02568	Polymerase proofreading-associated polyposis
H02569	Pulmonary fibrosis and/or bone marrow failure, telomere-related
H02570	Cerebro-oculo-facio-skeletal syndrome
H02571	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
H02572	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
H02573	Autosomal recessive spinocerebellar ataxias with axonal neuropathy
H02574	BILU syndrome
H02575	Lactose intolerance, adult type
H02576	Familial cutaneous telangiectasia and cancer syndrome
H02577	Karyomegalic interstitial nephritis
H02578	Short stature, microcephaly, and endocrine dysfunction
H02579	C3 glomerulopathy
H02580	Hereditary sensory neuropathy with spastic paraplegia
H02581	Juberg-Hayward syndrome
H02582	Mullegama-Klein-Martinez syndrome
H02583	X-linked intellectual disability-hypotonic facies syndrome
H02584	Ferguson-Bonni neurodevelopmental syndrome
H02585	Roifman-Chitayat syndrome
H02586	Distal myopathy with rimmed vacuoles
H02587	Luo-Schoch-Yamamoto syndrome
H02588	NLRP1-associated autoinflammation with arthritis and dyskeratosis; Autoinflammation with arthritis and dyskeratosis
H02589	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
H02590	Acute febrile neutrophilic dermatosis; Pyrin-associated autoinflammatory disease; Sweet syndrome
H02591	Fulminant viral hepatitis
H02592	Familial Behcet-like autoinflammatory syndrome
H02593	Chronic mucocutaneous ulceration
H02594	Congenital facial palsy with ptosis and velopharyngeal dysfunction
H02595	Oculoskeletodental syndrome
H02596	Disorders of carnitine transport and the carnitine cycle
H02597	Sepiapterin reductase deficiency
H02598	Progressive leukoencephalopathy
H02599	Inherited autoinflammatory disease
H02600	Congenital tracheal stenosis
H02601	Pulmonary arterial sling; Vascular sling
H02602	Congenital tricuspid valve stenosis
H02603	Congenital mitral valve stenosis
H02604	Chromosome 1q21.1 duplication syndrome
H02605	Congenital pulmonary venous stenosis
H02606	Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
H02607	Short stature and microcephaly with genital anomalies
H02608	Autoinflammatory-pancytopenia syndrome
H02609	Craniodiaphyseal dysplasia
H02610	Head and neck squamous cell carcinoma
H02611	Turnpenny-Fry syndrome
H02612	Radio-Tartaglia syndrome
H02613	Brunet-Wagner neurodevelopmental syndrome
H02614	Snijders Blok-Campeau syndrome
H02615	Parenti-Mignot neurodevelopmental syndrome
H02616	Neurodevelopmental disorder with macrocephaly
H02617	Bryant-Li-Bhoj neurodevelopmental syndrome
H02618	Developmental delay with variable intellectual disability and dysmorphic facies
H02619	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
H02620	Autoinflammation with episodic fever and lymphadenopathy; Cleavage-resistant RIPK1-induced autoinflammatory syndrome
H02621	X-linked systemic autoinflammatory disease; NEMO deleted exon 5 autoinflammatory syndrome
H02622	Shukla-Vernon syndrome
H02623	Kury-Isidor syndrome
H02624	Tumor predisposition syndrome
H02625	Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
H02626	Kalamiella piersonii infection
H02627	Epidermal nevus; Sebaceous nevus
H02628	Schimmelpenning-Feuerstein-Mims syndrome
H02629	Bent bone dysplasia syndrome
H02630	Chitayat syndrome
H02631	Melorheostosis
H02632	Houge-Janssens syndrome
H02633	Beck-Fahrner syndrome
H02634	Deafness, cataract, impaired intellectual development, and polyneuropathy
H02635	Poirier-Bienvenu neurodevelopmental syndrome
H02636	Sinoatrial node dysfunction and deafness
H02637	Brachycephaly, trichomegaly, and developmental delay
H02638	Zaki syndrome
H02639	Atelis syndrome
H02640	Vertebral hypersegmentation and orofacial anomalies
H02641	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
H02642	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
H02643	Lipoyltransferase 1 deficiency
H02644	Alpha-aminoadipic and alpha-ketoadipic aciduria
H02645	Cerebellar atrophy with seizures and variable developmental delay
H02646	Malignant hyperthermia
H02647	Macrodactyly
H02648	Acantholytic blistering of the oral and laryngeal mucosa
H02649	Autosomal dominant slowed nerve conduction velocity
H02650	Menke-Hennekam syndrome
H02651	Lessel-Kreienkamp syndrome
H02652	Macrocephaly, acquired, with impaired intellectual development
H02653	Faundes-Banka syndrome
H02654	Boudin-Mortier syndrome
H02655	Retinal dystrophy and microvillus inclusion disease
H02656	X-linked multisystem autoinflammatory disease with immune dysregulation
H02657	Sarcosinemia
H02658	X-linked congenital hemolytic anemia
H02659	Dentici-Novelli neurodevelopmental syndrome
H02660	Autoinflammation with pulmonary and cutaneous vasculitis
H02661	Subcutaneous panniculitis-like T-cell lymphoma
H02662	Sulfide quinone oxidoreductase deficiency
H02663	Braddock-Carey syndrome
H02664	Joint contracture, osteochondromas, and B-cell lymphoma
H02665	Reticulate acropigmentation of Kitamura
H02666	Chilton-Okur-Chung neurodevelopmental syndrome
H02667	Takenouchi-Kosaki syndrome
H02668	Heyn-Sproul-Jackson syndrome
H02669	Inflammatory bowel disease, immunodeficiency, and encephalopathy
H02670	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
H02671	Sodium-dependent multivitamin transporter deficiency
H02672	Systemic autoinflammatory disease with vasculitis
H02673	Craniofacial microsomia
H02674	Atrial standstill
H02675	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
H02676	Infantile-onset parkinsonism-dystonia
H02677	Progeroid laminopathy
H02678	External ophthalmoplegia with rib and vertebral anomalies
H02679	Miura-type epiphyseal chondrodysplasia
H02680	Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
H02681	Short stature with nonspecific skeletal abnormalities
H02682	Nizon-Isidor syndrome
H02683	Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
H02684	Mitochondrial progressive myopathy with congenital cataract and developmental delay
H02685	Developmental delay with neuropsychiatric disorders
H02686	Developmental delay with dysmorphic facies and dental anomalies
H02687	Congenital deafness and adult-onset progressive leukoencephalopathy
H02688	Dworschak-Punetha neurodevelopmental syndrome
H02689	Retinal dystrophy with leukodystrophy
H02690	Structural heart defects and renal anomalies syndrome
H02691	Scalp-ear-nipple syndrome
H02692	Usmani-Riazuddin syndrome
H02693	Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay
H02694	Alazami-Yuan syndrome
H02695	Fibrosis, neurodegeneration, and cerebral angiomatosis
H02696	Early-onset epilepsy
H02697	Long-Olsen-Distelmaier syndrome
H02698	Trichohepatoneurodevelopmental syndrome
H02699	Folate-responsive megaloblastic anemia
H02700	Intellectual developmental disorder with speech delay and dysmorphic facies
H02701	Recurrent metabolic crises with variable encephalomyopathic features
H02702	Tylosis with esophageal cancer
H02703	VISS syndrome
H02704	Mitochondrial myopathy and ataxia
H02705	Neurodevelopmental disorder with glutamatergic synapse dysfunction
H02706	Early-onset dystonia and/or spastic paraplegia
H02707	Khan-Khan-Katsanis syndrome
H02708	Baralle-Macken syndrome
H02709	Neurodevelopmental disorder with aminoacyl-tRNA synthetase defect
H02710	Yuksel-Vogel-Bauer syndrome
H02711	Acetyl-CoA carboxylase-alpha deficiency
H02712	Li-Campeau syndrome
H02713	Inflammatory poikiloderma with hair abnormalities and acral keratoses
H02714	Tessadori-Bicknell-van Haaften neurodevelopmental syndrome
H02715	Neurodevelopmental disorder with defects of ubiquitin-proteasome system
H02716	Becker nevus syndrome
H02717	Contractures, pterygia, and spondylocarpotarsal fusion syndrome
H02718	Autosomal dominant pontine microangiopathy and leukoencephalopathy
H02719	Multifocal fibromuscular dysplasia
H02720	Meester-Loeys syndrome
H02721	Scapulohumeroperoneal myopathy
H02722	Nevus comedonicus
H02723	Macrocephaly/autism syndrome
H02724	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome
H02725	Heart-hand syndrome
H02726	Kaya-Barakat-Masson syndrome
H02727	Triokinase and FMN cyclase deficiency syndrome
H02728	Marbach-Schaaf neurodevelopmental syndrome
H02729	Ain-Naz type of dysostosis multiplex
H02730	Severe congenital liver disease
H02731	Transient infantile hypertriglyceridemia
H02732	Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly; Regressive spondylometaphyseal dysplasia
H02733	Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
H02734	Hengel-Maroofian-Schols syndrome
H02735	Diaphyseal medullary stenosis with malignant fibrous histiocytoma
H02736	Neurodegeneration and seizures due to copper transport defect
H02737	Familial multinodular goiter
H02738	Childhood-onset neurodegeneration with cerebellar atrophy
H02739	Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline
H02740	Childhood-onset neurodegeneration with hypotonia, respiratory insufficiency, and brain imaging abnormalities
H02741	Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline
H02742	Congenital neuromuscular disorder with dysmorphic facies
H02743	KINSSHIP syndrome
H02744	Neurofacioskeletal syndrome with or without renal agenesis
H02745	Neuromuscular oculoauditory syndrome
H02746	Alfadhel syndrome
H02747	Oculogastrointestinal neurodevelopmental syndrome
H02748	Hepatorenocardiac degenerative fibrosis
H02749	Bleeding disorder vascular-type
H02750	Glutathionuria
H02751	Orthostatic hypotension
H02752	Tan-Almurshedi syndrome
H02753	Vertebral anomalies and variable endocrine and T-cell dysfunction
H02754	Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
H02755	Lui-Jee-Baron syndrome
H02756	Congenital juvenile recurrent respiratory papillomatosis
H02757	Recurrent respiratory infections and failure to thrive with or without diarrhea
H02758	ACCES syndrome
H02759	Suleiman-El-Hattab syndrome
H02760	BDV syndrome
H02761	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
H02762	Osteo-oto-hepato-enteric syndrome
H02763	Neurocardiofaciodigital syndrome
H02764	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
H02765	Prieto syndrome
H02766	Radiohumeral fusions with other skeletal and craniofacial anomalies
H02767	Congenital disorder of deglycosylation
H02768	Garg-Mishra progeroid syndrome
H02769	Tolchin-Le Caignec syndrome
H02770	Early-onset seizures with neurodegeneration and brain calcifications
H02771	Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy
H02772	Neurooculocardiogenitourinary syndrome
H02773	Menstrual cycle-dependent periodic fever
H02774	Hypotaurinemic retinal degeneration and cardiomyopathy
H02775	Visual impairment and progressive phthisis bulbi
H02776	Ventriculomegaly and arthrogryposis
H02777	Spastic paraplegia, intellectual disability, nystagmus, and obesity
H02778	Global developmental delay with or without impaired intellectual development
H02779	Riboflavin-responsive exercise intolerance
H02780	Liberfarb syndrome
H02781	Ichthyosis with erythrokeratoderma
H02782	Fliedner-Zweier syndrome
H02783	Myopathy with rimmed ubiquitin-positive autophagic vacuolation
H02784	Global developmental delay with speech and behavioral abnormalities
H02785	Band heterotopia
H02786	ENDOVE syndrome
H02787	Mahvash disease
H02788	Childhood-onset remitting leukodystrophy
H02789	Familial myoclonus
H02790	Hypokalemic tubulopathy and deafness
H02791	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
H02792	Immune dysregulation, autoimmunity, and autoinflammation
H02793	Temtamy syndrome
H02794	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
H02795	Sessile serrated polyposis cancer syndrome
H02796	Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT
H02797	Siddiqi syndrome
H02798	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
H02799	Rh-induced hemolytic disease of the fetus and newborn
H02800	N-acetylaspartate deficiency
H02801	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
H02802	Childhood-onset striatonigral degeneration
H02803	Neurodevelopmental disorder with histone modification defect
H02804	ReNU syndrome
H02805	Sarcoplasmic body myopathy
H02806	Insulinomatosis and diabetes mellitus syndrome
H02807	Abnormality of alpha-fetoprotein
H02808	Childhood-onset neurodegeneration with progressive microcephaly
H02809	Early-onset neurodegeneration with choreoathetoid movements and microcytic anemia
H02810	Intestinal dysmotility syndrome
H02811	Aplasia or hypoplasia of the breasts and/or nipples
H02812	Otofacial neurodevelopmental syndrome
H02813	Auroneurodental syndrome
H02814	Oculomotor-abducens synkinesis
H02815	Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
H02816	Developmental dysplasia of the hip
H02817	Peripheral neuropathy, myopathy, hoarseness, and hearing loss
H02818	Jeffries-Lakhani neurodevelopmental syndrome
H02819	Neonatal intractable myoclonus
H02820	Progressive encephalopathy with amyotrophy and optic atrophy
H02821	Sandestig-Stefanova syndrome
H02822	Lisch epithelial corneal dystrophy
H02823	Osteosclerotic metaphyseal dysplasia
H02824	Abnormal hair, joint laxity, and developmental delay; Pili torti-developmental delay-neurological abnormalities syndrome
H02825	Megalencephaly-polydactyly syndrome
H02826	Autoinflammation with episodic fever and immune dysregulation
H02827	Aplasia cutis-enamel dysplasia syndrome
H02828	Otosclerosis
H02829	Autoinflammation with arthritis and vasculitis
H02830	Arterial tortuosity-bone fragility syndrome
H02831	Acute transient encephalopathy
H02832	Thiamine metabolism dysfunction syndrome
H02833	Brain malformation renal syndrome
H02834	Kariminejad-Reversade neurodevelopmental syndrome
H02835	Congenital myelofibrosis with anemia, neutropenia, developmental delay, and ocular abnormalities
H02836	Bronchiectasis and nasal polyposis
H02837	Karayol-Borroto-Haghshenas neurodevelopmental syndrome
H02838	Neurodevelopmental disorder with variable familial hypercholanemia
H02839	Infantile-onset neurodegeneration with optic atrophy and brain abnormalities
H02840	Morimoto-Ryu-Malicdan neuromuscular syndrome
H02841	Hydrops, lactic acidosis, and sideroblastic anemia
H02842	Pan-Chung-Bellen syndrome
H02843	Brain malformations and seizures by impaired function of TRiC
H02844	Palmoplantar keratoderma and congenital alopecia
H02845	Arteriovenous malformations of the brain
H02846	Global developmental delay, progressive ataxia, and elevated glutamine
H02847	CASGID syndrome; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
H02848	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
H02849	Familial natural short sleep
H02850	TIMES syndrome
H02851	Muggenthaler-Chowdhury-Chioza syndrome
H02852	Unilateral or bilateral isolated cryptophthalmos
H02853	Teebi hypertelorism syndrome
H02854	Okur-Chung neurodevelopmental syndrome
H02855	Shashi-Pena syndrome
H02856	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
H02857	Neurodevelopmental disorder with microcephaly and structural brain anomalies
H02858	Neurodevelopmental disorder with speech impairment and with or without seizures
H02859	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
H02860	Gillespie syndrome
H02861	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
H02862	Neurodevelopmental disorder with or without variable brain abnormalities
H02863	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
H02864	Neurodevelopmental disorder with or without autism or seizures
H02865	Neurodevelopmental disorder with or without hyperkinetic movements and seizures
H02866	Hereditary myopathy with lactic acidosis
H02867	Epithelial recurrent erosion dystrophy
H02868	Heinz body anemia
H02869	Familial hepatic adenomas
H02870	Premature aging syndrome, Penttinen type
H02871	Lowry-Wood syndrome
H02872	Kosaki overgrowth syndrome
H02873	Kyphomelic dysplasia
H02874	Congenital melanocytic nevus syndrome; Giant congenital pigmented nevus
H02875	Neurocutaneous melanosis
H02876	Cantu syndrome
H02877	Glaucoma
H02878	Monosomy 7 myelodysplasia and leukemia syndrome
H02879	MIRAGE syndrome
H02880	Retinal arterial tortuosity
H02881	Jawad syndrome
H02882	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
H02883	Sneddon syndrome
H02884	RHYNS syndrome
H02885	Neurodevelopmental disorder with hypotonia and dysmorphic facies
H02886	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
H02887	Neurodevelopmental disorder with language impairment and behavioral abnormalities
H02888	Neurodevelopmental disorder with or without seizures and gait abnormalities
H02889	X-linked epilepsy-2 with or without impaired intellectual development and dysmorphic features
H02890	Neurodevelopmental disorder with language delay and variable cognitive abnormalities
H02891	Neurodevelopmental disorder with poor language and loss of hand skills
H02892	Neurodevelopmental disorder with infantile epileptic spasms
H02893	Euthyroid hyperthyroxinemia
H02894	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
H02895	Lodder-Merla syndrome; Gnb5-related intellectual disability-cardiac arrhythmia syndrome
H02896	Cutaneous mastocytosis
H02897	Familial persistent stuttering
H02898	Behr syndrome
H02899	Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome
H02900	Kahrizi syndrome
H02901	GAPO syndrome
H02902	Chondrosarcoma
H02903	CHAND syndrome
H02904	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
H02905	Santos syndrome
H02906	Polycystic lung disease
H02907	Elevated adenosine triphosphate of erythrocytes; Pyruvate kinase hyperactivity
H02908	Mitchell syndrome
H02909	Hyperostosis cranialis interna
H02910	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
H02911	Paul-Chao neurodevelopmental syndrome
H02912	Achalasia-progeroid syndrome
H02913	Rahman syndrome
H02914	Retinal dystrophy with or without macular staphyloma
H02915	Huriez syndrome
H02916	Fischer-Zirnsak progeroid syndrome
H02917	Wiedemann-Rautenstrauch syndrome
H02918	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
H02919	Bachmann-Bupp syndrome; Neurodevelopmental disorder with alopecia and brain abnormalities
H02920	Keratolytic winter erythema
H02921	Seborrheic keratosis
H02922	Pleomorphic salivary gland adenoma
H02923	Keratoendotheliitis fugax hereditaria
H02924	Intellectual disability and myopathy syndrome
H02925	Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy
H02926	Elsahy-Waters syndrome
H02927	DEEAH syndrome
H02928	Ocular pterygium-digital keloid dysplasia syndrome
H02929	Heme oxygenase-1 deficiency
H02930	Transient neonatal cyanosis
H02931	Primary lymphedema with myelodysplasia; Emberger syndrome
H02932	Scaphocephaly, maxillary retrusion, and impaired intellectual development
H02933	Delpire-McNeill syndrome
H02934	Kilquist syndrome
H02935	Ichthyosis, spastic quadriplegia, and impaired intellectual development
H02936	Hawkinsinuria
H02937	Preeclampsia/eclampsia
H02938	L-ferritin deficiency
H02939	Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp
H02940	Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
H02941	Multiple symmetric lipomatosis with or without axonal peripheral neuropathy
H02942	Melanoma-astrocytoma syndrome
H02943	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
H02944	Hereditary mucoepithelial dysplasia
H02945	Schwannomatosis
H02946	Congenital capillary malformations
H02947	Neuroocular syndrome
H02948	Hereditary neutrophilia
H02949	Robinow-Sorauf syndrome
H02950	Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis
H02951	Ventriculomegaly with cystic kidney disease
H02952	Autosomal recessive Leber-like hereditary optic neuropathy
H02953	Uruguay facio-cardio-musculo-skeletal syndrome
H02954	Steatocystoma multiplex
H02955	Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome
H02956	Gillessen-Kaesbach-Nishimura syndrome
H02957	ICHAD syndrome
H02958	Immunodysregulation with variable immunodeficiency and autoimmunity
H02959	Li-Takada-Miyake syndrome
H02960	Autosomal dominant adult-onset leukodystrophy without amyloid angiopathy
H02961	Guillouet-Gordon syndrome
H02962	Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism
H02963	X-linked parkinsonism with spasticity
H02964	Sudden infant death syndrome
H02965	Hoxha-Aliu syndrome
H02966	Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
H02967	Ogden syndrome
H02968	Curry-Jones syndrome
H02969	Hardikar syndrome
H02970	Neurodevelopmental disorder with epilepsy and hemochromatosis
H02971	VEXAS syndrome
H02972	Chronic benign proteinuria
H02973	Parkinsonism with polyneuropathy
H02974	Blepharophimosis-impaired intellectual development syndrome
H02975	X-linked female-restricted neurodegenerative disorder with parkinsonism and cognitive impairment
H02976	Waisman syndrome
H02977	Punctiform and polychromatic pre-Descemet corneal dystrophy
H02978	FICUS syndrome
H02979	Fetomaternal alloimmune thrombocytopenia; Neonatal alloimmune thrombocytopenia
H02980	Cognitive impairment with or without cerebellar ataxia
H02981	Neurooculorenal syndrome
H02982	Congenital heart defects and skeletal malformations syndrome
H02983	Leukodystrophy and cerebellar atrophy
H02984	Clark-Baraitser syndrome
H02985	Oculovertebral syndrome
H02986	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
H02987	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
H02988	Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
H02989	Developmental delay with or without epilepsy
H02990	Neurodevelopmental disorder with central and peripheral motor dysfunction
H02991	Alsahan-Harris syndrome
H02992	Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima
H02993	Developmental delay, dysmorphic facies, and brain anomalies
H02994	Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech
H02995	Harel-Tora neurodevelopmental syndrome
H02996	Neurocardiorenal malformation syndrome
H02997	Neurodevelopmental disorder with seizures and joint laxity
H02998	Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities
H02999	Congenital nonspherocytic hemolytic anemia
H03000	Infection-induced acute-onset axonal neuropathy
H03001	Dursun-Ozgul neurodevelopmental syndrome
H03002	Xerosis and growth failure with immune and pulmonary dysfunction syndrome
H03003	Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis
H03004	RECON progeroid syndrome
H03005	X-linked atrophic macular degeneration
H03006	Rabin-Pappas syndrome
H03007	Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
H03008	Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE
H03009	Yellow nail syndrome
H03010	Neurodevelopmental disorder with absent language and variable seizures
H03011	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
H03012	Autoinflammation and autoimmunity, systemic, with immune dysregulation
H03013	Immune dysregulation, neurodevelopmental defects, and colitis
H03014	Phosphoribosylaminoimidazole carboxylase deficiency
H03015	Brain abnormalities, neurodegeneration, and dysosteosclerosis
H03016	Valence-Farazi cerebellar ataxia syndrome
H03017	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
H03018	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
H03019	Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures
H03020	NESCAV syndrome
H03021	Craniofaciocardiohepatic syndrome
H03022	Obesity, hyperphagia, and developmental delay
H03023	Multiple self-healing palmoplantar carcinoma
H03024	Saul-Wilson syndrome
H03025	Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia
H03026	Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
H03027	Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
H03028	Intellectual development disorder with seizures and dysmorphic facies
H03029	Ectodermal dysplasia/short stature syndrome
H03030	Early-onset macular degeneration
H03031	Marden-Walker syndrome
H03032	Ramond-Elliott neurodevelopmental syndrome
H03033	Progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia
H03034	Hypopigmentation, organomegaly, and delayed myelination and development
H03035	Halperin-Birk syndrome
H03036	Childhood- or juvenile-onset osteoporosis with developmental delay
H03037	Gastric adenocarcinoma and proximal polyposis of the stomach
H03038	Pettigrew syndrome
H03039	Short stature-micrognathia syndrome
H03040	Neurodevelopmental disorder with epilepsy and brain atrophy
H03041	Neurodevelopmental disorder with poor growth and skeletal anomalies
H03042	Developmental delay, language impairment, and ocular abnormalities
H03043	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
H03044	Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
H03045	Neurodevelopmental disorder with parkinsonism or other movement abnormalities
H03046	Intellectual developmental disorder with poor growth and with or without seizures or ataxia
H03047	Polyendocrine-polyneuropathy syndrome
H03048	Familial infantile convulsions with paroxysmal choreoathetosis
H03049	Hypersulfaturia
H03050	Retinal dystrophy and obesity
H03051	Autosomal dominant isolated mitochondrial myopathy
H03052	Hyperproinsulinemia
H03053	Huppke-Brendel syndrome
H03054	Meconium ileus
H03055	Taurodontism, microdontia, and dens invaginatus
H03056	High molecular weight kininogen deficiency
H03057	CEBALID syndrome
H03058	Rhizomelic limb shortening with dysmorphic features
H03059	Harderoporphyria
H03060	Squalene synthase deficiency
H03061	Lobodontia
H03062	Essential fructosuria
H03063	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
H03064	Familial visceral neuropathy
H03065	X-linked anemia with or without neutropenia and/or platelet abnormalities
H03066	Craniofacial anomalies and anterior segment dysgenesis syndrome
H03067	T-cell immunodeficiency with thymic aplasia
H03068	Testicular anomalies with or without congenital heart disease
H03069	Immunodeficiency, developmental delay, and hypohomocysteinemia
H03070	Retinal dystrophy, Zeitz-Han type
H03071	Davis-Wells syndrome
H03072	Hemifacial myohyperplasia
H03073	Paraganglioma and gastric stromal sarcoma; Carney-Stratakis syndrome
H03074	Oculoectodermal syndrome
H03075	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
H03076	Ayme-Gripp syndrome
H03077	Developmental delay, impaired speech, and behavioral abnormalities
H03078	Al-Gazali-Bakalinova syndrome
H03079	Posterior amelia with pelvic and pulmonary hypoplasia syndrome
H03080	Craniometadiaphyseal osteosclerosis with hip dysplasia
H03081	Autosomal recessive keratoderma-ichthyosis-deafness syndrome
H03082	Short stature, Dauber-Argente type
H03083	Mendez-Johnson immunoneurologic syndrome
H03084	Myoectodermal gonadal dysgenesis syndrome
H03085	Popov-Chang syndrome
H03086	Uridine-cytidineuria
H03087	Spastic tetraplegia and axial hypotonia, progressive
H03088	Neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections
H03089	Congenital lower urinary tract obstruction
H03090	Lessel-Kubisch syndrome
H03091	Bosma arhinia microphthalmia syndrome
H03092	CDAGS syndrome
H03093	Abruzzo-Erickson syndrome
H03094	Meacham syndrome
H03095	Neurodevelopmental disorder with microcephaly and movement abnormalities
H03096	Arthrogryposis, Perthes disease, and upward gaze palsy
H03097	Shaheen syndrome
H03098	Isolated glycolic aciduria
H03099	Acrofrontofacionasal dysostosis
H03100	Damseh-Danson neurodevelopmental disorder
H03101	Lung-brain developmental disorder