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Summary Literature (0)
DOID:0110180 - Charcot-Marie-Tooth disease axonal type 2CC

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.

Synonyms: Charcot-Marie-Tooth neuropathy type 2CC, CMT2CC

Xenbase Genes : nefh

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014836 - Charcot-Marie-Tooth disease axonal type 2CC


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)