Combined oxidative phosphorylation defect type 11

Definition

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.

Also known as combined oxidative phosphorylation defect type 11, combined oxidative phosphorylation deficiency caused by mutation in RMND1, combined oxidative phosphorylation deficiency type 11, COXPD11, RMND1 combined oxidative phosphorylation deficiency — per MONDO

Also identified as

• DOID 0111481 per MONDO
• OMIM 614922 per MONDO
• Orphanet 324535 per MONDO
• UMLS C5190991 per MONDO