Glycerol Kinase Deficiency
Disease ID: disease_node_17537
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| Dbxref | MIM:307030, ORDO:408, SNOMEDCT_US_2023_03_01:297256008, UMLS_CUI:C0574108 |
|---|---|
| Subclassof | DOID_655 |
| Data Source | DOID |
| Doid Label | glycerol kinase deficiency |
| Doid Description | An inherited metabolic disorder characterized_by wide range of phenotypic variability, patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. |
| Disease Node Id | disease_node_17537 |
| Doid Id | DOID_0060363 |
| Disease Has Basis In | SO_0001537 |
| Label | Glycerol Kinase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Metabolism, Inborn Errors(ID:disease_node_5171) (Disease)