Charcot-Marie-Tooth disease axonal type 2H

Summary

DOID:0110166 - Charcot-Marie-Tooth disease axonal type 2H

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23.

Synonyms: AR-CMT2C, Autosomal recessive axonal CMT4C2, Axonal Charcot-Marie-Tooth disease with pyramidal involvement, Charcot-Marie-Tooth disease type 2H, CMT2H, autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features, autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features

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 recessive disease (is_a), Charcot-Marie-Tooth disease type 2 (is_a)