Combined oxidative phosphorylation defect type 25

Definition

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene.

Also known as combined oxidative phosphorylation deficiency caused by mutation in MARS2, combined oxidative phosphorylation deficiency type 25, COXPD25, MARS2 combined oxidative phosphorylation deficiency — per MONDO

Also identified as

• DOID 0111468 per MONDO
• OMIM 616430 per MONDO
• Orphanet 447954 per MONDO
• UMLS C5567742 per MONDO