"autosomal dominant Charcot-Marie-Tooth disease type 2Q"@en . "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14."^^ . "OMIM:615025"^^ . _:vb50942628 . "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q"@en . _:vb50942628 . "ICD10CM:G60.0"^^ . . "ORDO:329258"^^ . "DOID:0110170"^^ . . _:vb50942628 . "Charcot-Marie-Tooth disease axonal type 2Q"^^ . _:vb50942628 . "CMT2Q"@en . . _:vb50942628 . "disease_ontology"^^ . . "Charcot-Marie-Tooth neuropathy type 2Q"@en .