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DO Term : mitochondrial complex IV deficiency nuclear type 23 [DOID:0070485] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22.
  • synonyms:
  • MC4DN23,
  • OMIM:620275,
  • UMLS_CUI:C5830322,
  • 620275
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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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