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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, 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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last database update
02/04/2020
MGI 6.14
The Jackson Laboratory