Term Name: | Charcot-Marie-Tooth disease type X |
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Synonyms: | Cowchock syndrome |
Definition: | A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. |
Ontology: | Human Disease [DOID:0050542] ( DOID:0050542 ) |