fatal infantile encephalocardiomyopathy (Q18553419)
Jump to navigation
Jump to search
mitochondrial metabolism disease that has material basis in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase
- Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency type 1
- CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1
- CEMCOX1
- CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1; CEMCOX1
- Cytochrome C Oxidase Deficiency, Fatal Infantile, With Cardioencephalomyopathy
- fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
- fatal infantile COX deficiency
- fatal infantile cytochrome C oxidase deficiency
- cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | fatal infantile encephalocardiomyopathy |
mitochondrial metabolism disease that has material basis in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase |
|
Statements
1 reference
1 reference
Identifiers
1 reference
1 reference
1 reference
1 reference
1 reference