About   Help   FAQ
Disease Ontology Browser
D-glyceric aciduria (DOID:0111626)
Alliance: disease page
Synonyms: D-glycerate kinase deficiency; D-glyceric acidemia; D-glycericacidemia; deficiency of glycerate kinase; non ketotic hyperglycinemia syndrome
Alt IDs: OMIM:220120, ICD10CM:E72.59, MESH:C535767, ORDO:941, UMLS_CUI:C1291386
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory