Human Diseases

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 Immune system diseases
 Nervous system diseases
 Cardiovascular diseases
 Respiratory diseases
 Endocrine and metabolic diseases
 Digestive system diseases
 Urinary system diseases
 Reproductive system diseases
 Musculoskeletal diseases
 Skin diseases
 Congenital disorders of metabolism
   Congenital disorders of carbohydrate metabolism
   Congenital disorders of lipid/glycolipid metabolism
   Congenital disorders of glycan/glycoprotein metabolism
   Congenital disorders of amino acid metabolism
     H00167  Phenylketonuria [PATH:hsa00400 hsa00790]
     H00165  Tyrosinemia [PATH:hsa00350 hsa00360]
     H00163  Alkaptonuria [PATH:hsa00350]
     H00166  Hermansky-Pudlak syndrome [PATH:hsa04142]
     H00168  Oculocutaneous albinism [PATH:hsa00350 hsa04916]
     H00169  Ocular albinism [PATH:hsa04916]
     H00170  Piebaldism [PATH:hsa04916 hsa04520]
     H00171  Histidinemia [PATH:hsa00340]
     H00172  Maple syrup urine disease [PATH:hsa00280]
     H00173  Isovaleric acidemia [PATH:hsa00280]
     H00181  3-Methylcrotonylglycinuria [PATH:hsa00280]
     H00175  Propionic acidemia [PATH:hsa00280 hsa00640]
     H00174  Methylmalonic aciduria [PATH:hsa00280]
     H00179  3-Hydroxy-3-methylglutaryl-CoA lyase deficiency [PATH:hsa00280 hsa00650]
     H00275  Cystinosis [PATH:hsa04142]
     H00182  Cystathioninuria [PATH:hsa00260 hsa00270]
     H00183  Homocystinuria [PATH:hsa00260 hsa00270 hsa00450 hsa00670]
     H00184  Hypermethioninemia [PATH:hsa00270 hsa00450 hsa00260 hsa00230]
     H00164  Carbamoyl phosphate synthetase I deficiency [PATH:hsa00220 hsa00250 hsa00910]
     H00185  Citrullinemia [PATH:hsa00220 hsa00250]
     H00186  Hyperargininemia [PATH:hsa00220 hsa00330]
     H00178  Glutaric acidemia [PATH:hsa00071 hsa00380 hsa00310]
     H00188  Hyperlysinemia [PATH:hsa00300 hsa00310]
     H00187  Ornithine transcarbamylase deficiency [PATH:hsa00220]
     H00189  Ornithinaemia [PATH:hsa00330]
     H00190  Hyperprolinemia [PATH:hsa00330]
     H00191  Nonketotic hyperglycinemia [PATH:hsa00260]
     H00074  Canavan disease [PATH:hsa00250]
     H00548  Brunner syndrome [PATH:hsa00340 hsa00350 hsa00380 hsa04728]
     H00754  3-Methylglutaconic aciduria [PATH:hsa00280]
     H00834  Guanidinoacetate methyltransferase deficiency [PATH:hsa00260 hsa00330]
     H00835  Succinic semialdehyde dehydrogenase deficiency [PATH:hsa00250 hsa00650]
     H00849  Cerebral creatine deficiency syndrome [PATH:hsa00260 hsa00330]
     H00899  Lysinuric protein intolerance [PATH:hsa04974]
     H00901  Cystinuria [PATH:hsa04974]
     H00905  Iminoglycinuria [PATH:hsa04974 hsa04978]
     H00911  Dicarboxylic aminoaciduria [PATH:hsa04974 hsa04724]
     H00923  Congenital systemic glutamine deficiency [PATH:hsa00250 hsa00220 hsa00910 hsa04724 hsa04727]
     H00925  2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency [PATH:hsa00280]
     H01003  Dimethylglycine dehydrogenase deficiency [PATH:hsa00260]
     H01028  Argininosuccinic aciduria [PATH:hsa00220 hsa00250]
     H01032  N-acetylglutamate synthase deficiency [PATH:hsa00220]
     H01079  3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency [PATH:hsa00260]
     H01082  Phosphoserine aminotransferase deficiency [PATH:hsa00260 hsa00750]
     H01076  Alpha-methylacetoacetic aciduria [PATH:hsa00280 hsa00072]
     H01119  Prolidase deficiency
     H01121  Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency [PATH:hsa00072 hsa00280 hsa00650]
     H01123  HMG-CoA synthase deficiency [PATH:hsa00072 hsa00280 hsa00650 hsa00900]
     H01146  Aminoacylase 1 deficiency [PATH:hsa00220]
     H01187  Tietz syndrome [PATH:hsa04380 hsa04916]
     H01198  Fanconi renotubular syndrome
     H01225  D-2-hydroxyglutaric aciduria [PATH:hsa00020 hsa00480]
     H02304  Combined D-2- and L-2-hydroxyglutaric aciduria
     H01233  Urocanase deficiency [PATH:hsa00340]
     H01237  Sulfite oxidase deficiency [PATH:hsa00920]
     H01242  Saccharopinuria [PATH:hsa00310]
     H01257  GABA-transaminase deficiency [PATH:hsa00250]
     H01262  Formiminotransferase deficiency [PATH:hsa00340 hsa00670]
     H01279  Isobutyryl-CoA dehydrogenase deficiency [PATH:hsa00280]
     H01280  L-2-hydroxyglutaric aciduria [PATH:hsa00650]
     H01283  Malonyl-CoA decarboxylase deficiency [PATH:hsa00410 hsa00640 hsa04146]
     H01285  Methylcobalamin deficiency type G [PATH:hsa00270 hsa00450 hsa00670]
     H00668  Anemia due to disorders of glutathione metabolism [PATH:hsa00480 hsa00030]
     H01375  Glucose 6-phosphate dehydrogenase deficiency [PATH:hsa00480 hsa00030]
     H00843  Hartnup disorder [PATH:hsa04974 hsa04978]
     H01386  Asparagine synthetase deficiency [PATH:hsa00250]
     H01398  Primary hyperammonemic disorders (Urea cycle disorders) [PATH:hsa00220]
     H01400  Secondary hyperammonemia [PATH:hsa00280 hsa00071]
     H01583  Hydroxykynureninuria [PATH:hsa00380]
     H02087  Vertebral, cardiac, renal, and limb defects syndrome [PATH:hsa00380]
     H02109  Combined malonic and methylmalonic aciduria [PATH:hsa00280 hsa00061]
     H02116  Phosphoserine phosphatase deficiency [PATH:hsa00260]
     H02117  Neu-Laxova syndrome [PATH:hsa00260 hsa00750]
     H02136  Branched-chain ketoacid dehydrogenase kinase deficiency
     H02196  X-linked creatine deficiency syndrome
     H02285  Methylmalonate semialdehyde dehydrogenase deficiency [PATH:hsa00280 hsa00410 hsa00640]
     H02311  Molybdenum cofactor deficiency [PATH:hsa00790]
     H02313  5-Oxoprolinase deficiency [PATH:hsa00480]
     H02380  D-glyceric aciduria [PATH:hsa00030 hsa00260 hsa00630 hsa00561]
     H02419  Glycine encephalopathy with normal serum glycine [PATH:hsa04721]
   Congenital disorders of nucleotide metabolism
   Congenital disorders of cofactor/vitamin metabolism
   Congenital disorders of ion transport and metabolism
   Lysosomal storage diseases
   Peroxisomal diseases
   Mitochondrial diseases
   Other congenital disorders of metabolism
 Congenital malformations
 Other congenital disorders
 Other diseases

Last updated: January 15, 2021

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