Metadata | |
---|---|
ID | DOID:0070497 |
Name | mitochondrial complex IV deficiency nuclear type 11 |
Definition | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. https://pubmed.ncbi.nlm.nih.gov/33751098/, https://pubmed.ncbi.nlm.nih.gov/24202787/ |
Xrefs | |
SKOS |
exactMatch UMLS_CUI:C5436694 exactMatch MIM:619054 |
Synonyms |
MC4DN11 [EXACT] |
Parent Relationships |
is_a COX deficiency, benign infantile mitochondrial myopathy |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |