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Summary Literature (1)
DOID:0050542 - Charcot-Marie-Tooth disease type X

Disease Ontology Definition:A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene.

Synonyms: COWCK, Cowchock syndrome,

Xenbase Genes : gjb1, pdk3, prps1, aifm1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018994 - Charcot-Marie-Tooth disease type X


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 (is_a)