Charcot-Marie-Tooth disease type 4B1

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mtmr2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011066 - Charcot-Marie-Tooth disease type 4B1

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): autosomal recessive disease (is_a), Charcot-Marie-Tooth disease type 4 (is_a)