Charcot-Marie-Tooth disease type 4B2

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Summary

Literature (0)

DOID:0110190 - Charcot-Marie-Tooth disease type 4B2

Disease Ontology Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene.

Synonyms: autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2, Charcot-Marie-Tooth neuropathy type 4B2, CMT4B2

Echinobase 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

MIM:

MIM:604563 - charcot-marie-tooth disease, type 4b2; cmt4b2

MIM:604563 - charcot-marie-tooth disease, type 4b2; cmt4b2

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)