Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01079 |
3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency PHGDH Deficiency |
... abnormalities associated with this disorder are low concentrations of L-serine, D-serine, and glycine in cerebrospinal fluid (CSF) and plasma. Mutations have been identified in PHGDH, the gene encoding 3-PGDH. | Inherited metabolic disorder | PHGDH [HSA:26227] [KO:K00058] | |
| H02117 | Neu-Laxova syndrome | Neu-Laxova syndrome (NLS) is an autosomal recessive multiple malformation syndrome characterized by a recognizable pattern of severe malformations leading to prenatal or early postnatal lethality. It is ... | Inherited metabolic disorder |
PHGDH [HSA:26227] [KO:K00058] PSAT1 [HSA:29968] [KO:K00831] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |