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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

In OMIM:
OMIM:601382 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1

In Mondo Disease Ontology:
MONDO:0011066 - Charcot-Marie-Tooth disease type 4B1

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : mtmr2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Charcot-Marie-Tooth disease type 4 (is_a)