Charcot-Marie-Tooth disease type 2B2

Summary

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

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

: pnkp

MIM:

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

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

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)