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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,

Xenbase Genes : mtmr2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011066 - Charcot-Marie-Tooth disease type 4B1


Other Model Organisms: Alliance, 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)