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Echinobase
Summary Literature (0)
DOID:0110191 - Charcot-Marie-Tooth disease type 4B1


Disease Ontology Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).

Synonyms: CMT4B1, Charcot-Marie-Tooth neuropathy type 4B1, autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1,

Echinobase Genes :


OMIM:
MIM:601382 - charcot-marie-tooth disease, type 4b1; cmt4b1

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 4 (is_a), autosomal recessive disease (is_a)