Metadata | |
---|---|
ID | DOID:0070500 |
Name | mitochondrial complex IV deficiency nuclear type 15 |
Definition | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. https://pubmed.ncbi.nlm.nih.gov/26685157/ |
Xrefs | |
SKOS |
exactMatch UMLS_CUI:C5436712 exactMatch MIM:619059 |
Synonyms |
MC4DN15 [EXACT] |
Parent Relationships |
is_a COX deficiency, benign infantile mitochondrial myopathy |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |