Combined oxidative phosphorylation deficiency 29

Definition

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene.

Also known as combined oxidative phosphorylation deficiency 29, combined oxidative phosphorylation deficiency 29; COXPD29, combined oxidative phosphorylation deficiency caused by mutation in TXN2, combined oxidative phosphorylation deficiency type 29, COXPD29, TXN2 combined oxidative phosphorylation deficiency — per MONDO

Also identified as

• DOID 0111501 per MONDO
• OMIM 616811 per MONDO
• Orphanet 478029 per MONDO
• UMLS C5567607 per MONDO