Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0110179 - Charcot-Marie-Tooth disease type 2B2

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene.

Synonyms: AR-CMT2B2, ARCMT2B, Autosomal recessive axonal CMT4C3, CMT2B2, Charcot-Marie-Tooth disease neuronal type 2B2, Charcot-Marie-Tooth neuropathy type 2B2, autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2

Echinobase Genes : pnkp

OMIM:605589 - charcot-marie-tooth disease, axonal, type 2b2; cmt2b2

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)