COX deficiency, infantile mitochondrial myopathy

Term ID

DOID:0050713

Synonyms

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
fatal infantile COX deficiency
fatal infantile cytochrome C oxidase deficiency
fatal infantile encephalocardiomyopathy

Definition

A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/

References

ORDO:1561
UMLS_CUI:C4273730

Ontology

Human Disease ( DOID:0050713 )

Relationships

is a type of: cytochrome-c oxidase deficiency disease

cytochrome-c oxidase deficiency disease Show first 5 Terms
has subtype: mitochondrial complex IV deficiency nuclear type 2 mitochondrial complex IV deficiency nuclear type 6 mitochondrial complex IV deficiency nuclear type 9 mitochondrial complex IV deficiency nuclear type 13

mitochondrial complex IV deficiency nuclear type 2 mitochondrial complex IV deficiency nuclear type 6 mitochondrial complex IV deficiency nuclear type 9 mitochondrial complex IV deficiency nuclear type 13 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations