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Metadata
ID DOID:0080580
Name 3-Methylcrotonyl-CoA carboxylase 2 deficiency
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
Xrefs

MESH:C535309

OMIM:210210

Parent Relationships

is_a 3-methylcrotonyl-CoA carboxylase deficiency

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