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Summary Literature (1)
DOID:0050539 - Charcot-Marie-Tooth disease type 2


Disease Ontology Definition:A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.

Synonyms: hereditary motor and sensory neuropathy Guadalajara neuronal type, hereditary motor and sensory neuropathy Okinawa type, hereditary motor and sensory neuropathy type 2,

Xenbase Genes : mfn2, hspb1, rab7a, atp1a1, nefl, dync1h1, mpz, nefh, lmna, trim2, hspb8, dnajb2, jph1, tfg, gars1, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018993 - Charcot-Marie-Tooth disease type 2


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 (is_a)