3-methylcrotonyl-CoA carboxylase 2 deficiency

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Summary

Literature (0)

DOID:0080580 - 3-methylcrotonyl-CoA carboxylase 2 deficiency

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): 3-methylcrotonyl-CoA carboxylase deficiency (is_a)