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Disease Ontology Browser
Charcot-Marie-Tooth disease axonal type 2JJ (DOID:0051043)
Alliance: disease page
Synonyms: axonal Charcot-Marie-Tooth disease type 2JJ
Alt IDs: OMIM:621095
Definition: A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.


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
03/25/2025
MGI 6.24
The Jackson Laboratory