Combined oxidative phosphorylation defect type 17

Definition

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene.

Also known as combined oxidative phosphorylation deficiency caused by mutation in ELAC2, combined oxidative phosphorylation deficiency type 17, COXPD17, ELAC2 combined oxidative phosphorylation deficiency — per MONDO

Also identified as

• DOID 0111496 per MONDO
• OMIM 615440 per MONDO
• Orphanet 369913 per MONDO
• UMLS C3809526 per MONDO