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Summary Literature (0)
DOID:0110198 - Charcot-Marie-Tooth disease recessive intermediate C

Disease Ontology 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.

Synonyms: CMTRIC, RI-CMT type C, RI-CMTC, autosomal recessive intermediate Charcot-Marie-Tooth disease type C,

Echinobase Genes :

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Charcot-Marie-Tooth disease intermediate type (is_a)