| Metadata | |
|---|---|
| ID | DOID:0080360 |
| Name | mitochondrial complex IV deficiency nuclear type 13 |
| Definition | A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/25339201/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C4225304 exactMatch MIM:616501 |
| Synonyms |
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 [EXACT] MC4DN13 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |