Neuronopathy, distal hereditary motor, type 2C

Definition

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.

Also known as HSPB3 neuronopathy, distal hereditary motor, neuronopathy, distal hereditary motor caused by mutation in HSPB3 — per MONDO

Also identified as

• DOID 0111209 per MONDO
• OMIM 613376 per MONDO
• UMLS C3150619 per MONDO