Term Name: Charcot-Marie-Tooth disease type 2I
Synonyms: Charcot-Marie-Tooth neuropathy type 2I, CMT2I
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.
Ontology: Human Disease [DOID:0110158]   ( DOID:0110158 )

Relationships
is a type of: autosomal dominant disease Charcot-Marie-Tooth disease type 2