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

In OMIM:
OMIM:604563 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2

In Mondo Disease Ontology:
MONDO:0011475 - Charcot-Marie-Tooth disease type 4B2

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

Xenbase Genes : sbf2

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