Charcot-Marie-Tooth disease axonal type 2V

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Summary

Literature (0)

DOID:0110178 - Charcot-Marie-Tooth disease axonal type 2V

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.

Synonyms: autosomal dominant axonal Charcot-Marie-Tooth disease type 2V, autosomal dominant Charcot-Marie-Tooth disease type 2V, Charcot-Marie-Tooth neuropathy type 2V, CMT2V

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), Charcot-Marie-Tooth disease type 2 (is_a)