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Summary Literature (0)
DOID:0060175 - succinic semialdehyde dehydrogenase deficiency

Disease Ontology Definition:A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.

Synonyms: 4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria, SSADH

Xenbase Genes : aldh5a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010083 - succinic semialdehyde dehydrogenase deficiency


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): gamma-amino butyric acid metabolism disorder (is_a)