Metadata | |
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ID | DOID:0080359 |
Name | mitochondrial complex IV deficiency nuclear type 9 |
Definition | A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. https://pubmed.ncbi.nlm.nih.gov/12928484/ |
Xrefs | |
SKOS |
exactMatch MIM:616500 exactMatch UMLS_CUI:C4225154 |
Synonyms |
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 [EXACT] MC4DN9 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |