Term Name: | Charcot-Marie-Tooth disease type 1E |
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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 |
Definition: | A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22). |
Ontology: | Human Disease [DOID:0110153] ( DOID:0110153 ) |