Charcot-Marie-Tooth disease axonal type 2S
Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT2S
exact
Charcot-Marie-Tooth disease caused by mutation in IGHMBP2
exact
Charcot-Marie-Tooth disease type 2S
exact
Charcot-Marie-Tooth disease, axonal, type 2S
related
IGHMBP2 Charcot-Marie-Tooth disease
exact
SPCC737.07c