Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

Definition

Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.

Also known as cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3, COA5 fatal infantile encephalocardiomyopathy, fatal infantile encephalocardiomyopathy caused by mutation in COA5, mitochondrial complex IV, deficiency, nuclear type 9 — per MONDO

Also identified as

• DOID 0080359 per MONDO
• OMIM 616500 per MONDO
• UMLS C4225154 per MONDO