COX deficiency, benign infantile mitochondrial myopathy

Term ID

DOID:0081377

Synonyms

Isolated cytochrome C oxidase deficiency

Definition

A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/

References

GARD:48
ORDO:254905
UMLS_CUI:C5779825

Ontology

Human Disease ( DOID:0081377 )

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 1 mitochondrial complex IV deficiency nuclear type 3 mitochondrial complex IV deficiency nuclear type 4 mitochondrial complex IV deficiency nuclear type 7 mitochondrial complex IV deficiency nuclear type 8 ... Show All 17 Terms

mitochondrial complex IV deficiency nuclear type 1 mitochondrial complex IV deficiency nuclear type 3 mitochondrial complex IV deficiency nuclear type 4 mitochondrial complex IV deficiency nuclear type 7 mitochondrial complex IV deficiency nuclear type 8 mitochondrial complex IV deficiency nuclear type 10 mitochondrial complex IV deficiency nuclear type 11 mitochondrial complex IV deficiency nuclear type 12 mitochondrial complex IV deficiency nuclear type 14 mitochondrial complex IV deficiency nuclear type 15 mitochondrial complex IV deficiency nuclear type 16 mitochondrial complex IV deficiency nuclear type 17 mitochondrial complex IV deficiency nuclear type 18 mitochondrial complex IV deficiency nuclear type 19 mitochondrial complex IV deficiency nuclear type 20 mitochondrial complex IV deficiency nuclear type 21 mitochondrial complex IV deficiency nuclear type 22 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations