About: glutaric acidemia I

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease organic acidemia nodeID://b50944485
label	glutaric acidemia I
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111254
database_cross_reference	GARD:6522 MESH:C536833 OMIM:231670 ORDO:25
has_exact_synonym	GA1 (en) glutaric academia type 1 (en) glutaric aciduria 1 (en) glutaric aciduria type I (en) glutaryl-coA dehydrogenase deficiency (en) glutaryl-coenzyme A dehydrogenase deficiency (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in GCDH on chromosome 19p13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944486

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