FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cytochrome-c oxidase deficiency disease ID (Ontology) DOID:3762 (Human Disease)
Definition A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.
Also Known As "MITOCHONDRIAL COMPLEX IV DEFICIENCY"
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      17
Human Disease Models (FBhh)  DOID       4
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 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 cytochrome-c oxidase deficiency disease      19     13      4
 ameliorates | cytochrome-c oxidase deficiency disease       6       --       --
 exacerbates | cytochrome-c oxidase deficiency disease       1       --       --
 model of | cytochrome-c oxidase deficiency disease      12       --       --
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__mitochondrial metabolism disease
       |__cytochrome-c oxidase deficiency disease  88 rec.
           |__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.
           |__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.
           |__French Canadian Leigh disease 5 rec.
           |__Leigh disease 20 rec.
           |__mitochondrial complex IV deficiency nuclear type 23 1 rec.
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Is a mitochondrial metabolism disease
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Synonyms
  • "MITOCHONDRIAL COMPLEX IV DEFICIENCY" EXACT
Secondary IDs
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GARD:48
MESH:D030401
MIM:PS220110
NCI:C98910
SNOMEDCT_US_2023_03_01:237991006
UMLS_CUI:C0268237