succinic semialdehyde dehydrogenase deficiency

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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, SSADH, gamma-hydroxybutyric aciduria,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: AGR, 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)