Combined oxidative phosphorylation defect type 23

Definition

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.

Also known as combined oxidative phosphorylation deficiency caused by mutation in GTPBP3, combined oxidative phosphorylation deficiency type 23, COXPD23, GTPBP3 combined oxidative phosphorylation deficiency — per MONDO

Also identified as

• DOID 0111500 per MONDO
• OMIM 616198 per MONDO
• Orphanet 444013 per MONDO
• UMLS C5567743 per MONDO