| Metadata | |
|---|---|
| ID | DOID:0070491 |
| Name | mitochondrial complex IV deficiency nuclear type 1 |
| Definition | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. https://pubmed.ncbi.nlm.nih.gov/10746561/ |
| Xrefs | |
| SKOS |
exactMatch MIM:220110 exactMatch NCI:C176895 exactMatch UMLS_CUI:C5435656 |
| Subsets |
NCIthesaurus |
| Synonyms |
MC4DN1 [EXACT] |
| Parent Relationships |
is_a COX deficiency, benign infantile mitochondrial myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |