| Metadata | |
|---|---|
| ID | DOID:0050713 |
| Name | COX deficiency, infantile mitochondrial myopathy |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| 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] |
| Parent Relationships |