| Metadata | |
|---|---|
| ID | DOID:0060363 |
| Name | glycerol kinase deficiency |
| Definition | 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. https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency, https://www.ncbi.nlm.nih.gov/pubmed/22427807 |
| Xrefs |
SNOMEDCT_US_2023_03_01:297256008 |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |