| Metadata | |
|---|---|
| ID | DOID:0080359 |
| Name | mitochondrial complex IV deficiency nuclear type 9 |
| Definition | A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. https://pubmed.ncbi.nlm.nih.gov/12928484/ |
| Xrefs | |
| SKOS |
exactMatch MIM:616500 exactMatch UMLS_CUI:C4225154 |
| Synonyms |
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 [EXACT] MC4DN9 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |