Charcot-Marie-Tooth disease recessive intermediate D
Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
MONDO:0017058
autosomal recessive intermediate Charcot-Marie-Tooth disease
is_a
CMTRID
exact
COX6A1 Charcot-Marie-Tooth disease
exact
Charcot-Marie-Tooth disease caused by mutation in COX6A1
exact
Charcot-Marie-Tooth disease recessive intermediate type D
exact
Charcot-Marie-Tooth disease, recessive Intermediate type D
exact
Charcot-Marie-Tooth disease, recessive intermediate D
related
RI-CMT type D
exact
autosomal recessive intermediate Charcot-Marie-Tooth disease type D
exact
SPCC1739.09c