Mitochondrial complex III deficiency nuclear type 1

Definition

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.

Also known as BCS1L mitochondrial complex III deficiency, mitochondrial complex III deficiency caused by mutation in BCS1L — per MONDO

Also identified as

• DOID 0080111 per MONDO
• MESH C565128 per MONDO
• OMIM 124000 per MONDO
• UMLS C3541471 per MONDO