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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

OMIM:307030

ORDO:408

SNOMEDCT_US_2023_03_01:297256008

UMLS_CUI:C0574108

Subsets

DO_FlyBase_slim

DO_rare_slim

Parent Relationships

is_a inherited metabolic disorder

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