Charcot-Marie-Tooth disease type 1E (DOID:0110153)
Alliance: disease page
Synonyms: autosomal dominant Charcot-Marie-Tooth neuropathy and deafness; Charcot-Marie-Tooth disease and deafness; Charcot-Marie-Tooth disease demyelinating type 1E; Charcot-Marie-Tooth disease-deafness; CMT1E
Alt IDs: OMIM:118300, ICD10CM:G60.0, ORDO:90658
Definition: A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22).