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Disease Ontology Browser
Charcot-Marie-Tooth disease type 2EE (DOID:0111559)
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Synonyms: Charcot-Marie-Tooth disease, axonal, type 2EE; CMT2EE
Alt IDs: OMIM:618400
Definition: A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in MPV17 on chromosome 2p23.3.


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
05/26/2020
MGI 6.15
The Jackson Laboratory