FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term COX deficiency, infantile mitochondrial myopathy ID (Ontology) DOID:0050713 (Human Disease)
Definition A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.
Also Known As "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency" ; "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency" ; "fatal infantile COX deficiency" (for all, see Synonyms field below)
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  mitochondrial metabolism disease
   |__cytochrome-c oxidase deficiency disease
       |__COX deficiency, infantile mitochondrial myopathy  5 rec.
           |__mitochondrial complex IV deficiency nuclear type 2 2 rec.
           |__mitochondrial complex IV deficiency nuclear type 6 1 rec.
           |__mitochondrial complex IV deficiency nuclear type 9 1 rec.
           |__mitochondrial complex IV deficiency nuclear type 13 1 rec.
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Is a cytochrome-c oxidase deficiency disease
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Synonyms
  • "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency" EXACT
    "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency" EXACT
    "fatal infantile COX deficiency" EXACT
    "fatal infantile cytochrome C oxidase deficiency" EXACT
    "fatal infantile encephalocardiomyopathy" EXACT
Secondary IDs
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ORDO:1561
UMLS_CUI:C4273730