Echinobase will be undergoing a hardware update June 14 and 15, 2023 and therefore will be unavailable those days.

We apologize for the inconvenience.

Click on this message to dismiss it.
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:0110175 - Charcot-Marie-Tooth disease axonal type 2O

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.

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

Echinobase Genes : dync1h1

OMIM:614228 - charcot-marie-tooth disease, axonal, type 2o; cmt2o

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)