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branchiootic syndrome
Summary
- Synonym
-
- 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.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0060232
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
