Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	D-glyceric aciduria
Synonyms	D-glycerate kinase deficiency
Definitions	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.
ID	http://purl.obolibrary.org/obo/DOID_0111626
database_cross_reference	GARD:234 ICD10CM:E72.59 ORDO:941 OMIM:220120 MESH:C535767 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.
has exact synonym	D-glycerate kinase deficiency D-glyceric acidemia deficiency of glycerate kinase D-glycericacidemia non ketotic hyperglycinemia syndrome
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0111626
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	D-glyceric aciduria
notation	DOID:0111626
prefLabel	D-glyceric aciduria
subClassOf	http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_655

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/220120	Online Mendelian Inheritance in Man	LOOM