Charcot-Marie-Tooth disease type 1B (DOID:0110152)
Alliance: disease page
Synonyms: autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B; Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy; Charcot-Marie-Tooth neuropathy type 1B; CMT1B; hereditary motor and sensory neuropathy IB; HMSN1B; HMSN IB; peroneal muscular atrophy
Alt IDs: OMIM:118200, ICD10CM:G60.0, ORDO:101082
Definition: A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).