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Echinobase
Summary Literature (0)
DOID:0060363 - glycerol kinase deficiency

Disease Ontology 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.

Synonyms:

Echinobase Genes :


OMIM:
MIM:307030 - glycerol kinase deficiency

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): inherited metabolic disorder (is_a)