Term Name: Charcot-Marie-Tooth disease type 1A
Synonyms: autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A, Charcot-Marie-Tooth neuropathy type 1A, CMT1A, hereditary motor and sensory neuropathy 1A, HMSN1A, microduplication 17p12
Definition: A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).
Ontology: Human Disease [DOID:0110148]   ( DOID:0110148 )

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