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ZIRC
OBO ID: DOID:0060175
Term Name: succinic semialdehyde dehydrogenase deficiency Search Ontology:
Synonyms:
  • 4-hydroxybutyric aciduria
  • gamma-hydroxybutyric aciduria
  • SSADH
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. http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism
References:
Ontology: Human Disease   (DOID:0060175)
OTHER succinic semialdehyde dehydrogenase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency 271980
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None