Charcot-Marie-Tooth disease type 2DD

Summary

DOID:0111558 - Charcot-Marie-Tooth disease type 2DD

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1.

Synonyms: ATP1A1-related CMT2, ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2, CMT2DD, Charcot-Marie-Tooth disease, axonal, type 2DD, Charcot-Marie-Tooth neuropathy, type 2DD,

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

: atp1a1

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

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

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