branchiootic syndrome (DOID:0060232)
Alliance: disease page
Synonyms: BO syndrome; BOR; branchiootic dysplasia
Alt IDs: OMIM:120502, OMIM:602588, OMIM:608389, ICD10CM:Q87.0, MESH:C537104, ORDO:52429
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.