| Metadata | |
|---|---|
| ID | DOID:0080358 |
| Name | mitochondrial complex IV deficiency nuclear type 6 |
| Definition | A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. https://pubmed.ncbi.nlm.nih.gov/10545952/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C3554534 exactMatch MIM:615119 |
| Synonyms |
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 [EXACT] MC4DN6 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |