| Metadata | |
|---|---|
| ID | DOID:0060232 |
| Name | branchiootic syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/22901925, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
BO syndrome [EXACT] BOR [EXACT] branchiootic dysplasia [EXACT] |
| Parent Relationships |
is_a syndrome |