Term Name: | Charcot-Marie-Tooth disease type 2R |
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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 ) |