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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] (HMAD) MMADHC [HSA:27249] [KO:K26006] |
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| H02842 | Pan-Chung-Bellen syndrome | Pan-Chung-Bellen syndrome (PCBS) is a novel syndrome characterized by developmental delay, intellectual disability, and dysmorphic features. It has been reported that mutations in FRYL cause this syndrome ... | Congenital malformation | FRYL [HSA:285527] [KO:K27804] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |