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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

Referenced OMIM:
OMIM:118230 - CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE
OMIM:604484 - NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE; HMSNO

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : mfn2, hspb1, rab7a, atp1a1, nefl, dync1h1, mpz, lmna, trim2, hspb8, jph1, tfg, gars1, aars1, gdap1, [+]

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Charcot-Marie-Tooth disease (is_a)


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