Combined oxidative phosphorylation defect type 20

Definition

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene.

Also known as combined oxidative phosphorylation deficiency caused by mutation in VARS2, combined oxidative phosphorylation deficiency type 20, COXPD20, VARS2 combined oxidative phosphorylation deficiency — per MONDO

Also identified as

• DOID 0111478 per MONDO
• OMIM 615917 per MONDO
• Orphanet 420728 per MONDO
• UMLS C4014660 per MONDO