Combined oxidative phosphorylation defect type 14

Definition

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.

Also known as combined oxidative phosphorylation deficiency caused by mutation in FARS2, combined oxidative phosphorylation deficiency type 14, COXPD14, FARS2 combined oxidative phosphorylation deficiency — per MONDO

Also identified as

• DOID 0111477 per MONDO
• OMIM 614946 per MONDO
• Orphanet 319519 per MONDO
• UMLS C4755312 per MONDO