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DO Term : mitochondrial complex IV deficiency nuclear type 16 [DOID:0070501] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1.
  • synonyms:
  • 619060,
  • UMLS_CUI:C5436714,
  • MC4DN16,
  • OMIM:619060
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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