Term Name: Charcot-Marie-Tooth disease type 1G
Synonyms: CMT1G, PMP2-related Charcot-Marie-Tooth disease type 1, PMP2-related Charcot-Marie-Tooth neuropathy type 1, PMP2-related CMT1, PMP2-related hereditary motor and sensory neuropathy type 1
Definition: A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13.
Ontology: Human Disease [DOID:0111560]   ( DOID:0111560 )

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