Search Ontology:
Human Disease
branchiootic syndrome
- Term ID
- DOID:0060232
- 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. (2)
- References
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- GARD:10148
- ICD10CM:Q87.0
- MESH:C537104
- MIM:PS602588
- ORDO:52429
- SNOMEDCT_US_2025_09_01:764810000
- UMLS_CUI:C4273131
- Ontology
- Human Disease ( DOID:0060232 )
Other Pages
Genes Involved
Zebrafish Models