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DOID:0111626 - D-glyceric aciduria
Disease Ontology Definition:An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2.
Synonyms: deficiency of glycerate kinase, D-glycerate kinase deficiency, D-glyceric acidemia, D-glycericacidemia, non ketotic hyperglycinemia syndrome
Xenbase Genes
:
glyctk
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee