FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mitochondrial complex IV deficiency nuclear type 23 ID (Ontology) DOID:0070485 (Human Disease)
Definition 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.
Also Known As "MC4DN23"
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 Genes
 mitochondrial complex IV deficiency nuclear type 23       1
 for disease ribbon | mitochondrial complex IV deficiency nuclear type 23       1
 model of | mitochondrial complex IV deficiency nuclear type 23       1
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autosomal genetic disease
 |__autosomal recessive disease______________
mitochondrial metabolism disease             |
 |__cytochrome-c oxidase deficiency disease__|
                                             mitochondrial complex IV deficiency nuclear type 23  1 rec.
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Is a autosomal recessive disease
cytochrome-c oxidase deficiency disease
Part of
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Synonyms
  • "MC4DN23" EXACT OMO:0003012
Secondary IDs
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MIM:620275
UMLS_CUI:C5830322