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

Xenbase Genes : dync1h1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013644 - Charcot-Marie-Tooth disease axonal type 2O

MIM:
MIM:614228 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), Charcot-Marie-Tooth disease type 2 (is_a)