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.
Echinobase
Summary Literature (0)
DOID:0110156 - Charcot-Marie-Tooth disease type 2B1


Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.

Synonyms: CMT2B1, Charcot-Marie-Tooth disease neuronal type 2B1, Charcot-Marie-Tooth neuropathy type 2B1, autosomal recessive Charcot-Marie-Tooth disease type 2B1, autosomal recessive axonal CMT4C1, autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1

Echinobase Genes :


OMIM:
OMIM:605588 - charcot-marie-tooth disease, axonal, type 2b1; cmt2b1

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)