Combined oxidative phosphorylation defect type 30

Definition

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.

Also known as combined oxidative phosphorylation deficiency 30, combined oxidative phosphorylation deficiency caused by mutation in TRMT10C, combined oxidative phosphorylation deficiency type 30, COXPD30, TRMT10C combined oxidative phosphorylation deficiency — per MONDO

Also identified as

• DOID 0111471 per MONDO
• OMIM 616974 per MONDO
• Orphanet 478042 per MONDO
• UMLS C5567605 per MONDO