Term Name: | branchiootic syndrome |
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Synonyms: | BO syndrome, BOR, branchiootic dysplasia |
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. |
Ontology: | Human Disease [DOID:0060232] ( DOID:0060232 ) |