Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5

Definition

Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1D gene.

Also known as MC5DN5, Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type, mitochondrial complex v (atp synthase) deficiency, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 — per MONDO

Also identified as

• DOID 0070463 per MONDO
• OMIM 618120 per MONDO
• UMLS C4748269 per MONDO