Term Name: Charcot-Marie-Tooth disease type 1E
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 )

Relationships
is a type of: autosomal dominant disease Charcot-Marie-Tooth disease type 1