Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
humans
|
| gptkbp:alsoKnownAs |
gptkb:BOS
gptkb:Branchio-otic_syndrome |
| gptkbp:associatedWith |
gptkb:Branchio-oto-renal_syndrome
|
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1976
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:EYA1_gene
gptkb:SIX1_gene gptkb:SIX5_gene |
| gptkbp:OMIM |
602588
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hearing loss
renal anomalies branchial cleft cysts preauricular pits ear malformations |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:BOR_syndrome
|
| gptkbp:bfsLayer |
8
|
| http://www.w3.org/2000/01/rdf-schema#label |
Branchio-oto syndrome
|