Charcot-Marie-Tooth disease axonal type 2CC

Definition

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

Also known as Charcot-Marie-Tooth disease axonal type 2CC, Charcot-Marie-Tooth disease caused by mutation in NEFH, Charcot-Marie-Tooth disease, axonal, type 2cc, CMT2CC, NEFH Charcot-Marie-Tooth disease — per MONDO

Also identified as

• DOID 0110180 per MONDO
• OMIM 616924 per MONDO
• UMLS C4310790 per MONDO