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Disease Ontology Browser
Charcot-Marie-Tooth disease type 1A (DOID:0110148)
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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
Alt IDs: OMIM:118220, ICD10CM:G60.0, ORDO:101081
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).

Disease References using Mouse Models (12)
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