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DOID:0060232 - branchiootic syndrome
Disease Ontology 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.
Synonyms: BOR, BO syndrome, branchiootic dysplasia
Xenbase Genes
:
eya1,
six1
| MONDO:0018878 - branchiootic syndrome |
| MIM:120502 - BRANCHIOOTIC SYNDROME 2; BOS2 |
| MIM:602588 - BRANCHIOOTIC SYNDROME 1; BOS1 |
| MIM:608389 - BRANCHIOOTIC SYNDROME 3; BOS3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)