Term Name: Charcot-Marie-Tooth disease type 1D
Synonyms: Charcot-Marie-Tooth neuropathy type 1D, CMT1D, hereditary motor and sensory neuropathy 1D, HMSN ID, HMSN1D
Definition: A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2).
Ontology: Human Disease [DOID:0110150]   ( DOID:0110150 )

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