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Disease Ontology Browser
Charcot-Marie-Tooth disease recessive intermediate C (DOID:0110198)
Alliance: disease page
Synonyms: autosomal recessive intermediate Charcot-Marie-Tooth disease type C; CMTRIC; RI-CMT type C; RI-CMTC
Alt IDs: OMIM:615376, ICD10CM:G60.0, ORDO:369867
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.

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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
12/10/2024
MGI 6.24 		The Jackson Laboratory