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Summary Literature (7)
DOID:10595 - Charcot-Marie-Tooth disease


Disease Ontology Definition:A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.

Synonyms: CMT - Charcot-Marie-Tooth disease, Charcot Marie Tooth muscular atrophy, Peroneal muscular atrophy,

Xenbase Genes : mfn2, hspb1, gjb1, rab7a, atp1a1, sh3tc2, yars1, nefl, fgd4, egr2, dync1h1, cox6a1, mpz, nefh, lmna, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0015626 - Charcot-Marie-Tooth disease


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): neuromuscular disease (is_a)