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DO Term : 3-methylcrotonyl-CoA carboxylase 2 deficiency [DOID:0080580] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:210210,
  • 210210,
  • MESH:C535309
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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