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Summary Literature (0)
DOID:0110194 - Charcot-Marie-Tooth disease type 4B3


Disease Ontology Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.

Synonyms: CMT4B3,

Xenbase Genes : sbf1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014117 - Charcot-Marie-Tooth disease type 4B3


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Charcot-Marie-Tooth disease type 4 (is_a), autosomal recessive disease (is_a)