Charcot-Marie-Tooth disease type 4B2

Summary

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

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

: sbf2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011475 - Charcot-Marie-Tooth disease type 4B2

MONDO:0011475 - Charcot-Marie-Tooth disease type 4B2

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)