Metadata | |
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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 |