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Summary Literature (0)
DOID:0110153 - Charcot-Marie-Tooth disease type 1E

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)

Synonyms: CMT1E, Charcot-Marie-Tooth disease and deafness, Charcot-Marie-Tooth disease demyelinating type 1E, Charcot-Marie-Tooth disease-deafness, autosomal dominant Charcot-Marie-Tooth neuropathy and deafness

Echinobase Genes :

OMIM:118300 - charcot-marie-tooth disease and deafness

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Charcot-Marie-Tooth disease type 1 (is_a)