Human Diseases

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 Immune system diseases
 
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 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

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Last updated: September 14, 2020

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