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Summary Literature (5)
DOID:14702 - branchiootorenal syndrome


Disease Ontology Definition:A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities.

Synonyms: Branchio-Oto-renal syndrome, Branchio-otorenal dysplasia, Melnick-Fraser syndrome, Melnick-Fraser syndrome (disorder), branchiootorenal dysplasia

In OMIM:
OMIM:113650 - BRANCHIOOTORENAL SYNDROME 1; BOR1

In Mondo Disease Ontology:
MONDO:0007029 - branchio-oto-renal syndrome

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

Xenbase Genes : eya1, six1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)