Combined oxidative phosphorylation defect type 26

Definition

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene.

Also known as combined oxidative phosphorylation deficiency caused by mutation in TRMT5, combined oxidative phosphorylation deficiency type 26, COXPD26, TRMT5 combined oxidative phosphorylation deficiency — per MONDO

Also identified as

• DOID 0111490 per MONDO
• OMIM 616539 per MONDO
• Orphanet 477684 per MONDO
• UMLS C5567741 per MONDO