Metadata | |
---|---|
ID | DOID:0070496 |
Name | mitochondrial complex IV deficiency nuclear type 10 |
Definition | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. https://pubmed.ncbi.nlm.nih.gov/22243966/ |
Xrefs | |
SKOS |
exactMatch MIM:619053 exactMatch UMLS_CUI:C5436692 |
Synonyms |
MC4DN10 [EXACT] |
Parent Relationships |
is_a COX deficiency, benign infantile mitochondrial myopathy |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |