Neuronopathy, distal hereditary motor, type 5C

Definition

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene.

Also known as DHMN5C, HMN5C, neuropathy, distal hereditary motor, type VC, spinal muscular atrophy, distal, type 5C — per MONDO

Also identified as

• DOID 0081401 per MONDO
• OMIM 619112 per MONDO
• UMLS C5436838 per MONDO