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Disease Ontology Browser
Charcot-Marie-Tooth disease type 4C (DOID:0110183)
Alliance: disease page
Synonyms: autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C; Charcot-Marie-Tooth neuropathy type 4C; CMT4C
Alt IDs: OMIM:601596, ICD10CM:G60.0, ORDO:99949
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.

Disease References using Mouse Models (1)
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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Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory