Charcot-Marie-Tooth disease axonal type 2L

Summary

DOID:0110174 - Charcot-Marie-Tooth disease axonal type 2L

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene.

Synonyms: CMT2L, Charcot-Marie-Tooth neuropathy axonal type 2L, autosomal dominant Charcot-Marie-Tooth disease type 2L, autosomal dominant axonal Charcot-Marie-Tooth disease type 2L,

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

: hspb8

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012096 - Charcot-Marie-Tooth disease axonal type 2L

MONDO:0012096 - Charcot-Marie-Tooth disease axonal type 2L

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)