FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term COX deficiency, benign infantile mitochondrial myopathy ID (Ontology) DOID:0081377 (Human Disease)
Definition A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.
Also Known As "Isolated cytochrome C oxidase deficiency"
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  mitochondrial metabolism disease
   |__cytochrome-c oxidase deficiency disease
       |__COX deficiency, benign infantile mitochondrial myopathy  32 rec.
           |__mitochondrial complex IV deficiency nuclear type 1 8 rec.
           |__mitochondrial complex IV deficiency nuclear type 3 1 rec.
           |__mitochondrial complex IV deficiency nuclear type 4 3 rec.
           |__mitochondrial complex IV deficiency nuclear type 7 1 rec.
           |__mitochondrial complex IV deficiency nuclear type 8 2 rec.
           |__mitochondrial complex IV deficiency nuclear type 10
           |__mitochondrial complex IV deficiency nuclear type 11 1 rec.
           |__mitochondrial complex IV deficiency nuclear type 12 1 rec.
           |__mitochondrial complex IV deficiency nuclear type 14 2 rec.
           |__mitochondrial complex IV deficiency nuclear type 15 1 rec.
           |__mitochondrial complex IV deficiency nuclear type 16 2 rec.
           |__mitochondrial complex IV deficiency nuclear type 17 3 rec.
           |__mitochondrial complex IV deficiency nuclear type 18 3 rec.
           |__mitochondrial complex IV deficiency nuclear type 19 1 rec.
           |__mitochondrial complex IV deficiency nuclear type 20 1 rec.
           |__mitochondrial complex IV deficiency nuclear type 21 1 rec.
           |__mitochondrial complex IV deficiency nuclear type 22 1 rec.
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Is a cytochrome-c oxidase deficiency disease
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Synonyms
  • "Isolated cytochrome C oxidase deficiency" EXACT
Secondary IDs
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GARD:48
ORDO:254905
UMLS_CUI:C5779825