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Disease Ontology Browser
Charcot-Marie-Tooth disease axonal type 2X (DOID:0110176)
Alliance: disease page
Synonyms: autosomal recessive axonal Charcot-Marie-Tooth disease type 2X; Charcot-Marie-Tooth neuropathy type 2X
Alt IDs: OMIM:616668, ORDO:466775
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21.


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
02/13/2024
MGI 6.23
The Jackson Laboratory