Charcot-Marie-Tooth disease type 1G

Summary

DOID:0111560 - Charcot-Marie-Tooth disease type 1G

Disease Ontology 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.

Synonyms: CMT1G, PMP2-related CMT1, PMP2-related Charcot-Marie-Tooth disease type 1, PMP2-related Charcot-Marie-Tooth neuropathy type 1, PMP2-related hereditary motor and sensory neuropathy type 1,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Charcot-Marie-Tooth disease type 1 (is_a), autosomal dominant disease (is_a)