Metadata | |
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ID | DOID:0080360 |
Name | mitochondrial complex IV deficiency nuclear type 13 |
Definition | A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/25339201/ |
Xrefs | |
SKOS |
exactMatch UMLS_CUI:C4225304 exactMatch MIM:616501 |
Synonyms |
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 [EXACT] MC4DN13 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |