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Summary Literature (3)
DOID:0060232 - branchiootic syndrome


Disease Ontology Definition:A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.

Synonyms: BO syndrome, BOR, branchiootic dysplasia

Xenbase Genes : eya1, six1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018878 - branchiootic syndrome

OMIM:
OMIM:608389 - BRANCHIOOTIC SYNDROME 3; BOS3

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)