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:120502 - BRANCHIOOTIC SYNDROME 2

OMIM:602588 - BRANCHIOOTIC SYNDROME 1; BOS1

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