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Disease Ontology Browser
Charcot-Marie-tooth disease axonal type 2FF (DOID:0070836)
Alliance: disease page
Synonyms: CMT2FF
Alt IDs: OMIM:619519, UMLS_CUI:C5561981
Definition: A Charcot-Marie-Tooth disease type 2 characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs that has_material_basis_in heterozygous mutation in the CADM3 gene on chromosome 1q21. Additional symptoms include foot and ankle deformities requiring surgery or walking aids, variable distal sensory impairment, and prominent involvement of the upper limbs, with weakness and atrophy of the forearm, wrist, and intrinsic hand muscles.

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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
09/08/2026
MGI 6.24 		The Jackson Laboratory