Search Ontology:
Human Disease
3-methylcrotonyl-CoA carboxylase 2 deficiency
- Term ID
- DOID:0080580
- Synonyms
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- 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 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models