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
     H00071  Hereditary fructose intolerance [PATH:hsa00010]
     H00114  Fructose-1,6-bisphosphatase deficiency [PATH:hsa00010]
     H00072  Pyruvate dehydrogenase complex deficiency [PATH:hsa00620 hsa00010]
     H01997  Pyruvate dehydrogenase E1-alpha deficiency [PATH:hsa00010 hsa00620]
     H01998  Pyruvate dehydrogenase E1-beta deficiency [PATH:hsa00010 hsa00620]
     H01999  Pyruvate dehydrogenase E2 deficiency [PATH:hsa00010 hsa00620]
     H02000  Dihydrolipoamide dehydrogenase deficiency [PATH:hsa00010 hsa00020 hsa00280 hsa00620]
     H02003  Pyruvate dehydrogenase E3-binding protein deficiency
     H01996  Pyruvate dehydrogenase phosphatase deficiency
     H00073  Pyruvate carboxylase deficiency [PATH:hsa00620 hsa00020]
     H00070  Galactosemia [PATH:hsa00052 hsa00520]
     H02008  Galactose-1P uridylyltransferase deficiency [PATH:hsa00052]
     H02009  Galactokinase deficiency [PATH:hsa00052]
     H02010  Galactose epimerase deficiency [PATH:hsa00052]
     H00116  Congenital lactase deficiency [PATH:hsa00052]
     H00069  Glycogen storage disease [PATH:hsa00010 hsa00500 hsa04910]
     H01760  Hepatic glycogen storage disease [PATH:hsa00010 hsa00500 hsa04910]
     H01762  Muscle glycogen storage disease [PATH:hsa00010 hsa00500 hsa04910 hsa04922 hsa04142]
     H01939  Glycogen storage disease type I [PATH:hsa00010 hsa04973]
     H01940  Glycogen storage disease type II [PATH:hsa00052 hsa04142]
     H01941  Glycogen storage disease type III [PATH:hsa00500]
     H01942  Glycogen storage disease type IV [PATH:hsa00500]
     H01943  Glycogen storage disease type V [PATH:hsa00500 hsa04910]
     H01944  Glycogen storage disease type VI [PATH:hsa00500 hsa04910 hsa04922]
     H01945  Glycogen storage disease type VII [PATH:hsa00010]
     H01948  Glycogen storage disease type IX [PATH:hsa04910 hsa04922]
     H01951  Glycogen storage disease type X [PATH:hsa00010 hsa00260 hsa04922]
     H01946  Glycogen storage disease type XI [PATH:hsa00010 hsa00620]
     H01952  Glycogen storage disease type XII [PATH:hsa00010 hsa00030 hsa00051]
     H01953  Glycogen storage disease type XIII [PATH:hsa00010]
     H01954  Glycogen storage disease type XIV [PATH:hsa00010 hsa00500 hsa00520]
     H01955  Glycogen storage disease type XV [PATH:hsa00500]
     H01950  Glycogen storage disease type 0a [PATH:hsa00500 hsa04910]
     H01949  Glycogen storage disease type 0b [PATH:hsa00500 hsa04910]
     H01956  Glycogen storage disease of heart [PATH:hsa04152 hsa04910 hsa04922]
     H01947  Fanconi-Bickel syndrome [PATH:hsa04911 hsa04973]
     H00115  Congenital sucrase-isomaltase deficiency [PATH:hsa00500]
     H00117  Primary hyperoxaluria [PATH:hsa00260 hsa00630]
     H01071  Acute alcohol sensitivity [PATH:hsa00010]
     H01261  Congenital glucose-galactose malabsorption [PATH:hsa04973]
     H02090  Trehalase deficiency [PATH:hsa00500]
     H02439  Short stature, developmental delay, congenital heart defect [PATH:hsa00030]
     H02451  Congenital disorder of glycosylation with defective fucosylation [PATH:hsa00051 hsa00510]
   Congenital disorders of lipid/glycolipid metabolism
   Congenital disorders of glycan/glycoprotein metabolism
   Congenital disorders of amino acid metabolism
   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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