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Disease Ontology Browser
Charcot-Marie-Tooth disease type 1G (DOID:0111560)
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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
Alt IDs: OMIM:618279, ORDO:476394
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory