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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00183 | Homocystinuria | Homocystinuria (HC) is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems. | Inherited metabolic disorder |
CBS [HSA:875] [KO:K01697] MTHFR [HSA:4524] [KO:K25004] (HMAE) MTRR [HSA:4552] [KO:K00597] (HMAG) MTR [HSA:4548] [KO:K00548] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |