Term Name: Charcot-Marie-Tooth disease recessive intermediate C
Synonyms: autosomal recessive intermediate Charcot-Marie-Tooth disease type C, CMTRIC, RI-CMT type C, RI-CMTC
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.
Ontology: Human Disease [DOID:0110198]   ( DOID:0110198 )

Relationships
is a type of: autosomal recessive disease Charcot-Marie-Tooth disease intermediate type