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Echinobase
Summary Literature (0)
DOID:0110179 - Charcot-Marie-Tooth disease type 2B2


Disease Ontology Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene.

Synonyms: AR-CMT2B2, ARCMT2B, Autosomal recessive axonal CMT4C3, CMT2B2, Charcot-Marie-Tooth disease neuronal type 2B2, Charcot-Marie-Tooth neuropathy type 2B2, autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2

Echinobase Genes : pnkp


OMIM:
OMIM:605589 - charcot-marie-tooth disease, axonal, type 2b2; cmt2b2

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)