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Disease Ontology Browser
Charcot-Marie-Tooth disease type 4B1 (DOID:0110191)
Alliance: disease page
Synonyms: autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1; Charcot-Marie-Tooth neuropathy type 4B1; CMT4B1
Alt IDs: OMIM:601382, ICD10CM:G60.0, MESH:C535420, ORDO:99955
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).

Disease References using Mouse Models (4)
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