Term Name: | glycerol kinase deficiency |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060363] ( DOID:0060363 ) |