Metadata | |
---|---|
ID | DOID:0080357 |
Name | mitochondrial complex IV deficiency nuclear type 2 |
Definition | A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. https://pubmed.ncbi.nlm.nih.gov/10746561/ |
Xrefs | |
SKOS |
exactMatch MIM:604377 exactMatch UMLS_CUI:C5399977 |
Synonyms |
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 [EXACT] MC4DN2 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |