Charcot-Marie-Tooth disease type 1E

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pmp22

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007311 - Charcot-Marie-Tooth disease type 1E

MONDO:0007311 - Charcot-Marie-Tooth disease type 1E

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), Charcot-Marie-Tooth disease type 1 (is_a)