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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

In OMIM:
OMIM:615284 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3; CMT4B3

In Mondo Disease Ontology:
MONDO:0014117 - Charcot-Marie-Tooth disease type 4B3

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

Xenbase Genes : sbf1

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