Charcot-Marie-Tooth disease axonal type 2V

Definition

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene.

Also known as autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation, autosomal dominant Charcot-Marie-Tooth disease type 2V, Charcot-Marie-Tooth disease caused by mutation in NAGLU, CMT2V, hereditary adult-onset painful axonal polyneuropathy, NAGLU Charcot-Marie-Tooth disease — per MONDO

Also identified as

• DOID 0110178 per MONDO
• OMIM 616491 per MONDO
• Orphanet 447964 per MONDO
• UMLS C5569050 per MONDO