Term Name: | Charcot-Marie-Tooth disease X-linked dominant 1 |
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Synonyms: | Charcot-Marie-Tooth neuropathy X-linked dominant 1, CMT1X, CMTX1, X-linked Charcot-Marie-Tooth disease type 1 |
Definition: | A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. |
Ontology: | Human Disease [DOID:0110209] ( DOID:0110209 ) |