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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

MIM:
MIM:615284 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B3; CMT4B3

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)