Charcot-Marie-Tooth disease type 1A (DOID:0110148)
Alliance: disease page
Synonyms: autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A; Charcot-Marie-Tooth neuropathy type 1A; CMT1A; hereditary motor and sensory neuropathy 1A; HMSN1A; microduplication 17p12
Alt IDs: OMIM:118220, ICD10CM:G60.0, ORDO:101081
Definition: A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).