Term Name: | Charcot-Marie-Tooth disease axonal type 2Q |
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Synonyms: | autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q, autosomal dominant Charcot-Marie-Tooth disease type 2Q, Charcot-Marie-Tooth neuropathy type 2Q, CMT2Q |
Definition: | 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. |
Ontology: | Human Disease [DOID:0110170] ( DOID:0110170 ) |