Charcot-Marie-Tooth disease axonal type 2V

Summary

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

Xenbase 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

: naglu

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014665 - Charcot-Marie-Tooth disease axonal type 2V

MONDO:0014665 - Charcot-Marie-Tooth disease axonal type 2V

MIM:

MIM:616491 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V; CMT2V

MIM:616491 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V; CMT2V

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)