Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
both males and females
|
| gptkbp:alsoKnownAs |
gptkb:Branchio-oto-renal_syndrome
|
| gptkbp:characterizedBy |
hearing loss
renal anomalies branchial cleft cysts preauricular pits |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Melnick_et_al.
|
| https://www.w3.org/2000/01/rdf-schema#label |
BOR syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:EYA1_gene
gptkb:SIX1_gene gptkb:SIX5_gene |
| gptkbp:OMIM |
113650
|
| gptkbp:onset |
congenital
|
| gptkbp:prevalence |
1 in 40,000
|
| gptkbp:relatedTo |
gptkb:Branchio-otic_syndrome
gptkb:Branchio-oto_syndrome |
| gptkbp:symptom |
branchial fistulas
external ear malformations kidney malformations |
| gptkbp:treatment |
supportive care
hearing aids surgical intervention |
| gptkbp:bfsParent |
gptkb:branchio-oto-renal_syndrome
|
| gptkbp:bfsLayer |
7
|