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DOID:0110209 - Charcot-Marie-Tooth disease X-linked dominant 1
Disease Ontology Definition:A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.
Synonyms: CMT1X, CMTX1, Charcot-Marie-Tooth neuropathy X-linked dominant 1, X-linked Charcot-Marie-Tooth disease type 1,
Echinobase Genes :
MIM:302800 - charcot-marie-tooth disease, x-linked dominant, 1; cmtx1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Charcot-Marie-Tooth disease type X (is_a)