Term Name: Charcot-Marie-Tooth disease type 2R
Synonyms: autosomal recessive axonal Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth neuropathy type 2R, CMT2R
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.
Ontology: Human Disease [DOID:0110161]   ( DOID:0110161 )

Relationships
is a type of: autosomal recessive disease Charcot-Marie-Tooth disease type 2