Metadata | |
---|---|
ID | DOID:0070494 |
Name | mitochondrial complex IV deficiency nuclear type 7 |
Definition | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. https://pubmed.ncbi.nlm.nih.gov/24781756/, https://pubmed.ncbi.nlm.nih.gov/18499082/ |
Xrefs | |
SKOS |
exactMatch MIM:619051 exactMatch UMLS_CUI:C5436685 |
Synonyms |
MC4DN7 [EXACT] |
Parent Relationships |
is_a COX deficiency, benign infantile mitochondrial myopathy |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |