Cancers
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