OBO ID: DOID:14723
Term Name: beta-ketothiolase deficiency Search Ontology:
Synonyms: 2-methyl-3-hydroxybutyricacidemia, 3-ketothiolase deficiency, 3-oxothiolase deficiency (all 6) expand
Definition:
References: MESH:C535818, OMIM:203750, SNOMEDCT_US_2016_03_01:238067002 (all 4) expand
Ontology: Human Disease   (DOID:14723)
Relationships
is a type of:
OTHER beta-ketothiolase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACAT1 acat1 Alpha-methylacetoacetic aciduria 203750
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None