H00004	Chronic myeloid leukemia
H00009	Adult T-cell leukemia
H00013	Small cell lung cancer
H00017	Esophageal cancer
H00018	Gastric cancer
H00019	Pancreatic cancer
H00020	Colorectal cancer
H00021	Renal cell carcinoma
H00022	Bladder cancer
H00024	Prostate cancer
H00025	Penile cancer
H00039	Basal cell carcinoma
H00041	Kaposi sarcoma
H00042	Glioma
H00046	Cholangiocarcinoma
H00048	Hepatocellular carcinoma; Liver cancer
H00056	Alzheimer disease; Dementia due to Alzheimer disease
H00057	Parkinson disease
H00058	Amyotrophic lateral sclerosis (ALS); Lou Gehrig disease
H00059	Huntington disease
H00061	Prion disease; Creutzfeldt-Jacob disease (CJD); Gerstmann-Straussler disease (GSD); Gerstmann-Straussler-Scheinker disease (GSSD); Fatal familial insomnia (FFI)
H00063	Spinocerebellar ataxia (SCA)
H00066	Lewy body dementia (LBD); Dementia with Lewy bodies (DLB)
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
H00075	Refsum disease; Heredopathia atactica polyneuritiformis
H00080	Systemic lupus erythematosus
H00083	Allograft rejection
H00085	Agammaglobulinemias
H00086	Hyper IgM syndromes, autosomal recessive type
H00088	Common variable immunodeficiency
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 associated immunodeficiency
H00100	Neutropenic disorders
H00101	Other phagocyte defects
H00107	Other well-defined immunodeficiency syndromes
H00110	Cholera
H00111	Typhoid fever
H00114	Fructose-1,6-bisphosphatase deficiency
H00117	Primary hyperoxaluria
H00118	Congenital disorders of glycosylation type I
H00119	Congenital disorders of glycosylation type II
H00120	Muscular dystrophy-dystroglycanopathy type A
H00123	Mucopolysaccharidosis type IV
H00124	GM2 gangliosidoses
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
H00135	Krabbe disease; Globoid cell leukodystrophy
H00140	beta-Mannosidosis
H00141	Fucosidosis
H00142	Sialidosis; Mucolipidosis I
H00145	Aspartylglucosaminuria
H00148	Lysosomal acid lipase deficiency
H00155	Familial hypercholesterolemia; Autosomal dominant hypercholesterolaemia
H00159	Tangier disease
H00161	Smith-Lemli-Opitz syndrome
H00162	Sjogren-Larsson syndrome
H00163	Alkaptonuria
H00165	Tyrosinemia
H00167	Phenylketonuria; Hyperphenylalaninemia, BH4-deficient
H00168	Oculocutaneous albinism
H00171	Histidinemia
H00172	Maple syrup urine disease
H00173	Isovaleric acidemia
H00174	Methylmalonic aciduria; Methylmalonic acidemia
H00175	Propionic acidemia
H00178	Glutaric acidemia
H00179	3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
H00181	3-Methylcrotonylglycinuria; 3-Methylcrotonyl-CoA carboxylase deficiency
H00182	Cystathioninuria
H00183	Homocystinuria
H00184	Hypermethioninemia
H00185	Citrullinemia; Argininosuccinate synthase deficiency
H00186	Hyperargininemia
H00187	Ornithine transcarbamylase deficiency
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
H00206	Mevalonate kinase deficiency
H00207	Rhizomelic chondrodysplasia punctata
H00209	Menkes syndrome
H00210	Wilson disease; Hepatolenticular degeneration
H00211	Hemochromatosis
H00213	Hypophosphatasia
H00214	Hypophosphatemic rickets
H00232	Hereditary stomatocytosis
H00235	Methemoglobinemia
H00236	Congenital polycythemia; Familial erythrocytosis (ECYT)
H00237	Diamond-Blackfan anemia
H00238	Fanconi anemia
H00251	Thyroid dyshormonogenesis; Dyshormogenetic goiter
H00256	Familial glucocorticoid deficiency
H00257	Achalasia Addisonianism Alacrima syndrome; Triple A syndrome; Allogrove syndrome
H00260	Pigmented micronodular adrenocortical disease
H00261	Meckel syndrome; Meckel-Gruber syndrome
H00262	Neural tube defects, folate-sensitive
H00264	Charcot-Marie-Tooth disease; Hereditary motor and sensory neuropathy
H00265	Hereditary sensory and autonomic neuropathy
H00266	Hereditary spastic paraplegia
H00268	Lissencephaly
H00271	Polymicrogyria
H00272	Multiple sulfatase deficiency
H00277	Enterohemorrhagic Escherichia coli (EHEC) infection
H00278	Enteropathogenic Escherichia coli (EPEC) infection
H00290	Aicardi-Goutieres syndrome
H00291	Familial chilblain lupus (FCL); Chilblain lupus erythematosus (CHLE)
H00292	Hypertrophic cardiomyopathy
H00295	Viral myocarditis
H00296	Defects in RecQ helicases
H00298	Yersiniosis
H00299	Shigellosis; Bacillary dysentery
H00311	Legionellosis; Legionnaires disease
H00319	Pertussis; Whooping cough
H00320	Helicobacter pylori infection
H00330	Methicillin-resistant Staphylococcal aureus (MRSA) infection
H00331	Vancomycin-resistant Staphylococcal aureus (VRSA) infection
H00342	Tuberculosis
H00357	African trypanosomiasis; Sleeping sickness
H00358	Chagas disease; American trypanosomiasis
H00359	Leishmaniasis
H00360	Amoebiasis
H00361	Malaria
H00365	Herpes simplex virus infection; HSV infection
H00367	Infectious mononucleosis; Epstein-Barr virus (EBV) infection
H00368	Cytomegalovirus infection; CMV infection
H00375	SBCAD deficiency; Short-branched-chain acyl-CoA dehydrogenase deficiency
H00394	Measles
H00398	Influenza
H00399	Avian influenza; Bird flu; H5N1 flu
H00403	Disorders of nucleotide excision repair
H00406	Acquired immunodeficiency syndrome (AIDS)
H00407	Peroxisomal beta-oxidation enzyme deficiency
H00408	Type 1 diabetes mellitus
H00409	Type 2 diabetes mellitus
H00412	Hepatitis B; Hepatitis B virus (HBV) infection
H00413	Hepatitis C; Hepatitis C virus (HCV) infection
H00418	Bardet-Biedl syndrome
H00419	Congenital generalized lipodystrophy
H00421	Mucopolysaccharidosis
H00422	Glycoproteinoses
H00423	Sphingolipidosis
H00426	Gangliosidosis
H00435	Toxoplasmosis
H00439	Shwachman-Diamond syndrome
H00455	Spinal muscular atrophy
H00457	Primary hypertrophic osteoarthropathy
H00469	Mitochondrial DNA depletion syndrome
H00473	Mitochondrial complex I deficiency
H00476	Multiple epiphyseal dysplasia
H00477	Pseudoachondroplasia
H00480	X-linked mental retardation
H00481	Cone-rod dystrophy and cone dystrophy
H00485	Robinow syndrome
H00488	MCAD deficiency; Medium-chain acyl-CoA dehydrogenase deficiency; ACADM deficiency
H00491	Craniometaphyseal dysplasia
H00494	Desbuquois syndrome; Desbuquois dysplasia (DBQD)
H00506	Osteogenesis imperfecta
H00507	Dyskeratosis congenita
H00513	Transient neonatal diabetes mellitus
H00516	Cleft lip and/or cleft palate
H00522	Brachyolmia
H00523	Noonan syndrome and related disorders
H00525	Disorders of mitochondrial fatty-acid oxidation
H00527	Retinitis pigmentosa
H00530	Joubert syndrome
H00537	Nephronophthisis
H00541	Autosomal dominant tubulointerstitial kidney disease
H00543	Renal-hepatic-pancreatic dysplasia
H00548	Brunner syndrome; MAOA deficiency
H00557	Cutis laxa
H00558	Geroderma osteodysplasticum
H00559	von Hippel-Lindau syndrome
H00560	Pseudoxanthoma elasticum
H00564	Primary ciliary dyskinesia
H00575	Renal tubular dysgenesis
H00580	Schimke immunoosseous dysplasia
H00590	Congenital muscular dystrophies (CMD/MDC)
H00593	Limb-girdle muscular dystrophy
H00594	Distal myopathy
H00604	Deafness, autosomal dominant
H00605	Deafness, autosomal recessive
H00606	Early infantile epileptic encephalopathy; Developmental and epileptic encephalopathy; Ohtahara syndrome
H00616	Bowen-Conradi syndrome
H00617	Desmosterolosis
H00628	Congenital bile acid synthesis defect
H00630	Rheumatoid arthritis
H00658	Syndromic X-linked mental retardation
H00663	Restrictive dermopathy
H00664	Anemia due to disorders of glycolytic enzymes
H00665	Mandibuloacral dysplasia
H00668	Anemia due to disorders of glutathione metabolism
H00674	Anemia due to disorders of nucleotide metabolism
H00679	Hypomyelinating leukodystrophy; Pelizaeus-Merzbacher disease (PMD)
H00698	Nemaline myopathy
H00710	Erythrokeratodermia variabilis
H00720	Long QT syndrome
H00734	Autosomal recessive congenital ichthyosis
H00750	Keratosis pilaris atrophicans
H00754	3-Methylglutaconic aciduria
H00761	SEMD, Pakistani type; Brachyolmia type 4
H00768	Autosomal recessive intellectual developmental disorder; Autosomal recessive mental retardation
H00770	Congenital myasthenic syndrome
H00773	Autosomal dominant intellectual developmental disorder; Autosomal dominant mental retardation
H00779	Usher syndrome (US)
H00783	Febrile seizures
H00786	Hypotrichosis
H00788	Hoyeraal-Hreidarsson syndrome; X-linked dyskeratosis congenita
H00789	Keratoconus
H00798	Familial carpal tunnel syndrome
H00804	Multiple cutaneous and uterine leiomyomata
H00820	Bjornstad syndrome
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
H00837	Leber congenital amaurosis
H00844	Familial benign chronic pemphigus; Hailey-Hailey disease
H00849	Cerebral creatine deficiency syndrome
H00856	Distal hereditary motor neuropathies
H00866	Trichothiodystrophy
H00869	Leukoencephalopathy with vanishing white matter; Vanishing white matter disease; Childhood ataxia with diffuse central nervous system hypomyelination (CACH); Cree leukoencephalopathy (CLE)
H00871	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
H00874	Leukoencephalopathy with dystonia and motor neuropathy; Sterol carrier protein 2 deficiency
H00878	Cystic leukoencephalopathy without megalencephaly
H00888	Nephrolithiasis/osteoporosis, hypophosphatemic
H00891	Combined oxidative phosphorylation deficiency
H00895	Basal cell nevus syndrome; Nevoid basal cell carcinoma syndrome; Gorlin syndrome
H00897	Pontocerebellar hypoplasia
H00898	Myopathy with lactic acidosis and sideroblastic anaemia; Mitochondrial myopathy and sideroblastic anemia; Hereditary myopathy with lactic acidosis (HML)
H00920	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
H00923	Congenital systemic glutamine deficiency; Glutamine synthetase deficiency
H00925	2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency; HSD10 mitochondrial disease
H00932	Tropical calcific pancreatitis
H00933	Hereditary pancreatitis; Hereditary chronic pancreatitis
H00946	Arts 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
H00955	Granular corneal dystrophies
H00956	Lattice corneal dystrophies
H00959	Schnyder corneal dystrophy; Schnyder crystalline corneal dystrophy (SCCD); Crystalline stromal dystrophy; Schnyder crystalline dystrophy sine crystals
H00964	Thiopurine S-methyltransferase deficiency (TPMT deficiency)
H00966	AICA-ribosiduria; ATIC deficiency
H00970	Juvenile primary lateral sclerosis
H00978	Thrombocytopenia (THC)
H00982	Sideroblastic anemia
H00984	Bare lymphocyte syndrome type1
H00985	Bare lymphocyte syndrome type2
H00992	Seckel syndrome
H00995	Combined deficiency of vitamin K-dependent clotting factors
H00999	Coenzyme Q10 deficiency
H01003	Dimethylglycine dehydrogenase deficiency
H01015	Jalili syndrome
H01019	Catecholaminergic polymorphic ventricular tachycardia
H01020	Optic atrophy
H01022	Diseases of the tricarboxylic acid cycle
H01025	Familial adenomatous polyposis
H01028	Argininosuccinic aciduria; Argininosuccinate lyase deficiency
H01065	Pentosuria
H01071	Acute alcohol sensitivity
H01076	Alpha-methylacetoacetic aciduria; 3-Ketothiolase deficiency
H01079	3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency; PHGDH Deficiency
H01082	Phosphoserine aminotransferase deficiency
H01097	Spastic quadriplegic cerebral palsy
H01101	Combined lipase deficiency
H01115	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
H01118	Progressive external ophthalmoplegia; Autosomal dominant progressive external ophthalmoplegia
H01119	Prolidase deficiency
H01121	Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency
H01123	HMG-CoA synthase deficiency
H01124	Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency
H01128	Reticular dysgenesis
H01132	Aplastic anemia
H01135	Ribose 5-phosphate isomerase deficiency
H01159	Anterior segment dysgenesis
H01161	Aromatic L-amino acid decarboxylase deficiency
H01170	Autosomal recessive spastic ataxia of Charlevoix-Saguenay
H01189	Transaldolase deficiency
H01194	X-linked chondrodysplasia punctata
H01197	Dihydrofolate reductase deficiency
H01198	Fanconi renotubular syndrome
H01200	Fatal infantile cardioencephalomyopathy
H01202	Cataract
H01205	Coumarin resistance; Warfarin resistance
H01209	Deafness, X-linked
H01210	Hypomagnesemia
H01214	Rh-null hemolytic anemia (RHN); Rh-deficiency syndrome
H01221	Epithelial basement membrane corneal dystrophy; Cogan microcystic epithelial dystrophy; Map-dot-fingerprint dystrophy
H01225	D-2-hydroxyglutaric aciduria
H01232	Syndromic multisystem autoimmune disease
H01233	Urocanase deficiency; Urocanic aciduria
H01234	Trimethylaminuria; Fish-odor syndrome
H01236	Familial articular chondrocalcinosis
H01237	Sulfite oxidase deficiency
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
H01249	Ethylmalonic encephalopathy
H01257	GABA-transaminase deficiency; 4-Aminobutyrate aminotransferase deficiency
H01262	Formiminotransferase deficiency
H01267	Familial hyperinsulinemic hypoglycemia
H01280	L-2-hydroxyglutaric aciduria
H01281	Lathosterolosis
H01282	Spermatogenic failure
H01283	Malonyl-CoA decarboxylase deficiency
H01285	Methylcobalamin deficiency type G
H01298	Pulmonary alveolar microlithiasis
H01333	Non-alcoholic fatty liver disease
H01346	Bloom syndrome; MGRISCE1
H01347	MELAS syndrome; Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes
H01349	Methacrylic aciduria; 3-Hydroxy-isobutyryl-CoA hydrolase deficiency
H01351	Spastic ataxia
H01352	Mitochondrial trifunctional protein deficiency
H01354	Leigh syndrome
H01355	Kearns-Sayre syndrome
H01364	3-Hydroxyacyl-CoA dehydrogenase deficiency; HADH deficiency; SCHAD deficiency
H01365	Leber hereditary optic neuropathy and dystonia
H01367	Infantile liver failure
H01368	Cytochrome c oxidase (COX) deficiency; Mitochondrial complex IV deficiency (MT-C4D)
H01369	ATP synthase deficiency
H01371	Hypercalcemia infantile; Idiopathic infantile hypercalcemia
H01375	Glucose 6-phosphate dehydrogenase deficiency
H01376	Acrofacial dysostosis
H01382	Polyarteritis nodosa; ADA2 deficiency
H01386	Asparagine synthetase deficiency
H01390	Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE Syndrome
H01395	Autosomal recessive progressive external ophthalmoplegia
H01398	Primary hyperammonemic disorders (Urea cycle disorders)
H01400	Secondary hyperammonemia
H01409	Methicillin-sensitive Staphylococcus aureus (MSSA) infection
H01428	Xeroderma pigmentosum
H01431	Cushing syndrome
H01439	Williams-Beuren syndrome
H01450	Obsessive-compulsive disorder
H01456	Diabetic nephropathy
H01457	Diabetic retinopathy
H01478	Machado-Joseph disease; Spinocerebellar ataxia 3
H01481	Myelodysplastic syndrome
H01489	Inherited glycosylphosphatidylinositol deficiencies; Glycosylphosphatidylinositol biosynthesis deficiency
H01510	Malignant paraganglioma
H01532	Gout
H01556	Meningioma
H01563	HIV infection
H01567	Thiamine pyrophosphokinase deficiency; Thiamine metabolism dysfunction syndrome 5
H01576	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI); Spondyloenchondrodysplasia (SPENCD)
H01583	Hydroxykynureninuria; Xanthurenic aciduria; Kynureninase deficiency
H01591	Gastrotintestinal stromal tumor
H01600	Parkinsonian syndrome
H01611	Alcohol dependence
H01640	Uterine leiomyoma; Fibroid
H01649	Schizophrenia
H01657	Nephrotic syndrome
H01667	Medulloblastoma
H01672	Juvenile idiopathic arthritis
H01677	Congenital hydrocephalus
H01722	Galloway-Mowat syndrome
H01725	Primary immunodeficiency disease
H01726	Membranoproliferative glomerulonephritis
H01744	Polyglucosan body myopathy
H01760	Hepatic glycogen storage disease
H01762	Muscle glycogen storage disease
H01763	Porphyria
H01773	4p deletion syndrome; Wolf-Hirschhorn syndrome
H01784	Primary hyperchylomicronemia
H01796	Uncombable hair syndrome; Spun glass hair syndrome; Pili trianguli et canaliculi
H01824	CODAS syndrome; Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
H01845	Catel-Manzke syndrome; Palatodigital syndrome; Hyperphalangy syndrome
H01852	Postaxial polydactyly
H01859	Occipital horn syndrome
H01881	Complex cortical dysplasia with other brain malformations
H01891	Autosomal recessive spinocerebellar ataxias
H01892	Peripheral T cell lymphoma
H01894	Multiple mitochondrial dysfunctions syndrome
H01929	2,4-Dienoyl-CoA reductase deficiency
H01933	Porokeratosis
H01936	Hyperbiliverdinemia
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
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
H01959	Muscular dystrophy-dystroglycanopathy type C
H01960	Muscular dystrophy-dystroglycanopathy type B
H01972	Autoimmune polyendocrinopathy syndrome type 1; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
H01979	Overhydrated hereditary stomatocytosis; Hereditary xerocytosis
H01980	SCAD deficiency; Short-chain acyl-CoA dehydrogenase deficiency; ACADS 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
H02004	Fumarase deficiency; Fumaric aciduria
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
H02013	Glycerol kinase deficiency
H02014	Ataxia-telangiectasia-like syndrome
H02016	Tay-Sachs disease; GM2 gangliosidoses type I
H02017	Sandhoff disease; GM2 gangliosidoses type II
H02031	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
H02041	Myopia
H02049	Bilateral macronodular adrenal hyperplasia
H02086	Mitochondrial complex III deficiency
H02087	Vertebral, cardiac, renal, and limb defects syndrome; Congenital NAD deficiency disorder
H02090	Trehalase deficiency
H02095	Perrault syndrome
H02096	Peroxisomal acyl-CoA oxidase deficiency
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
H02109	Combined malonic and methylmalonic aciduria
H02111	Autism; Autistic spectrum disorder; Pervasive developmental disorder
H02113	Infantile cerebellar-retinal degeneration
H02116	Phosphoserine phosphatase deficiency
H02117	Neu-Laxova syndrome
H02124	Interstitial lung and liver disease; Hereditary pulmonary alveolar proteinosis with hepatic involvement
H02132	Microcephaly syndrome
H02138	Hereditary hypophophatemic rickets with hypercalciuria
H02157	Short-rib thoracic dysplasia
H02170	Microphthalmia, syndromic
H02187	Spondyloepimetaphyseal dysplasia
H02191	Noonan-like syndrome with loose anagen hair
H02195	MEHMO syndrome
H02200	Leukoencephalopathy, progressive, with ovarian failure; Ovarioleukodystrophy
H02208	Pantothenate kinase-associated neurodegeneration; Hallervorden-Spatz disease; Neurodegeneration with brain iron accumulation 1
H02209	HARP syndrome
H02221	Methylmalonic aciduria and homocystinuria
H02232	CAGSSS syndrome; Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
H02238	Spinal muscular atrophy with congenital bone fractures
H02242	Ehlers-Danlos syndrome vascular type; Ehlers-Danlos syndrome type IV
H02248	MEND syndrome
H02250	Early-onset vitamin B6-dependent epilepsy
H02255	FDLAB syndrome; Traboulsi syndrome
H02285	Methylmalonate semialdehyde dehydrogenase deficiency
H02303	Alopecia-mental retardation syndrome
H02307	Muscular dystrophy-dystroglycanopathy
H02309	Adenosine deaminase deficiency
H02311	Molybdenum cofactor deficiency
H02312	Glutathione synthetase deficiency
H02313	5-Oxoprolinase deficiency
H02335	Preimplantation embryonic lethality
H02339	Auditory neuropathy
H02342	Frontotemporal dementia and amyotrophic lateral sclerosis
H02343	EVEN-plus syndrome
H02346	Intellectual developmental disorder with short stature
H02368	Developmental delay with short stature, dysmorphic facial features, and sparse hair
H02375	Cardiac valvular defect, developmental
H02380	D-glyceric aciduria
H02390	Autosomal recessive neuromyotonia and axonal neuropathy
H02391	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
H02398	COVID-19; Coronavirus disease 2019
H02410	Myelodysplastic/myeloproliferative neoplasms
H02412	Atypical chronic myeloid leukemia
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
H02448	Harel-Yoon syndrome
H02456	Ectodermal dysplasia
H02459	Syndromic neurodevelopmental disorder
H02460	Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies
H02461	Neurodevelopmental disorder with microcephaly
H02463	Syndromic intellectual developmental disorder
H02466	Rajab interstitial lung disease with brain calcification
H02468	Early childhood-onset progressive leukodystrophy
H02470	Neurodevelopmental disorder with structural brain abnormalities
H02481	Syndromic disorder with short stature
H02485	Extraoral halitosis due to MTO deficiency
H02492	Microcephaly, growth restriction, and increased sister chromatid exchange
H02498	Diabetic cardiomyopathy
H02504	Gastrointestinal ulceration, recurrent, with dysfunctional platelets
H02505	Atherosclerosis
H02516	Alcoholic liver disease
H02520	Phosphoenolpyruvate carboxykinase deficiency
H02526	Disorders of adaptive immunity
H02529	Bone marrow failure syndrome
H02530	Hereditary prostate cancer
H02533	Kaufman oculocerebrofacial syndrome
H02534	Y-linked spermatogenic failure
H02536	Infection-induced acute encephalopathy
H02538	Paraganglioma
H02539	Intervertebral disc disease
H02545	Hypertryptophanemia
H02546	Hypervalinemia and hyperleucine-isoleucinemia
H02548	CIMDAG syndrome
H02550	Birk-Landau-Perez syndrome
H02554	Omenn syndrome
H02557	Dopa-responsive dystonia
H02562	Yoon-Bellen neurodevelopmental syndrome
H02567	Sorbitol dehydrogenase deficiency with peripheral neuropathy