Charcot-Marie-Tooth disease type 2R

Term ID

DOID:0110161

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. (2)

References

• ICD10CM:G60.0
• MIM:615490
• ORDO:397968

Ontology

Human Disease   ( DOID:0110161 )