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Disease Ontology Browser
Charcot-Marie-Tooth disease axonal type 2S (DOID:0110171)
Alliance: disease page
Synonyms: autosomal recessive axonal Charcot-Marie-Tooth type 2S; Charcot-Marie-Tooth disease type 2S; Charcot-Marie-Tooth neuropathy type 2S; CMT2S
Alt IDs: OMIM:616155, ORDO:443073
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.


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
11/10/2020
MGI 6.16
The Jackson Laboratory