Summary Literature (0)

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

Xenbase Genes : hspb8

Mondo Disease Ontology (on Monarch Initiative):

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

MIM:

MIM:608673 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; CMT2L

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

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