Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
auditory system
renal system branchial arches |
| gptkbp:alsoKnownAs |
gptkb:BOR_syndrome
|
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Melnick_et_al.
1975 |
| https://www.w3.org/2000/01/rdf-schema#label |
Branchio-oto-renal syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:EYA1_gene
gptkb:SIX1_gene gptkb:SIX5_gene |
| gptkbp:OMIM |
113650
|
| gptkbp:prevalence |
1 in 40,000
|
| gptkbp:symptom |
hearing loss
renal anomalies branchial cleft cysts preauricular pits ear malformations |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:BOR_syndrome
gptkb:EYA1_gene gptkb:SIX1 gptkb:SIX5 gptkb:SIX5_gene |
| gptkbp:bfsLayer |
8
|