OBO ID: DOID:0081168
Term Name: HMG-CoA synthase 2 deficiency Search Ontology:
Synonyms:
  • 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
Definition: An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. (2)
References:
Ontology: Human Disease   (DOID:0081168)
OTHER HMG-CoA synthase 2 deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HMGCS2 HMG-CoA synthase-2 deficiency 605911
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None