OBO ID: DOID:0080580
Term Name: 3-Methylcrotonyl-CoA carboxylase 2 deficiency Search Ontology:
Synonyms:
Definition: A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13. https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency
References:
Ontology: Human Disease   ( DOID:0080580 )
OTHER 3-Methylcrotonyl-CoA carboxylase 2 deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency 210210
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None