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DO Term : succinic semialdehyde dehydrogenase deficiency [DOID:0060175] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
OMIM:271980,
MESH:C535803,
4-hydroxybutyric aciduria,
gamma-hydroxybutyric aciduria,
271980,
SSADH

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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