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Summary Literature (0)
DOID:0111558 - Charcot-Marie-Tooth disease type 2DD


Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in ATP1A1 on chromosome 1p13.1.

Synonyms: ATP1A1-related CMT2, ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2, CMT2DD, Charcot-Marie-Tooth disease, axonal, type 2DD, Charcot-Marie-Tooth neuropathy, type 2DD

Xenbase Genes : atp1a1


OMIM:
OMIM:618036 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD; CMT2DD

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 type 2 (is_a), autosomal dominant disease (is_a)