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DO Term : mitochondrial complex IV deficiency nuclear type 18 [DOID:0070503] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2.
  • synonyms:
  • 619062,
  • UMLS_CUI:C5436720,
  • MC4DN18,
  • OMIM:619062
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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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