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Echinobase
Summary Literature (0)
DOID:0110154 - Charcot-Marie-Tooth disease type 2A1

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36.

Synonyms: autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1, Charcot-Marie-Tooth disease neuronal type 2A1, Charcot-Marie-Tooth neuropathy type 2A1, CMT2A1, hereditary motor and sensory neuropathy IIA1, HMSN IIA1, HMSN2A1

Echinobase Genes :


MIM:
MIM:118210 - charcot-marie-tooth disease, axonal, type 2a1; cmt2a1

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)