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DO Term : mitochondrial complex IV deficiency nuclear type 13 [DOID:0080360] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42.
  • synonyms:
  • UMLS_CUI:C4225304,
  • OMIM:616501,
  • fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4,
  • MC4DN13,
  • 616501
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Disease

Diseases --> Human genes

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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