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Disease Ontology Browser
Charcot-Marie-tooth disease type 1J (DOID:0070835)
Alliance: disease page
Synonyms: CMT1J
Alt IDs: OMIM:620111, ORDO:730332, UMLS_CUI:C5774249
Definition: A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy, as well as distal sensory impairment, predominantly affecting the lower limbs and resulting in gait abnormalities that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21. This disease is progressive but highly variable in both age of onset, ranging from early childhood to mid-adulthood, and severity.

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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09/08/2026
MGI 6.24 		The Jackson Laboratory