Charcot-Marie-Tooth disease axonal type 2O

Definition

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.

Also known as autosomal dominant Charcot-Marie-Tooth disease type 2O, Charcot-Marie-Tooth disease caused by mutation in DYNC1H1, Charcot-Marie-Tooth disease, axonal, type 20, CMT2O, DYNC1H1 Charcot-Marie-Tooth disease — per MONDO

Also identified as

• DOID 0110175 per MONDO
• OMIM 614228 per MONDO
• Orphanet 284232 per MONDO
• UMLS C3280220 per MONDO