Amyotrophic lateral sclerosis type 12

Definition

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene.

Also known as ALS12, amyotrophic lateral sclerosis 12, amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, amyotrophic lateral sclerosis caused by mutation in OPTN, amyotrophic lateral sclerosis type 12, OPTN amyotrophic lateral sclerosis — per MONDO

Also identified as

• DOID 0060203 per MONDO
• OMIM 613435 per MONDO
• UMLS C3150692 per MONDO