Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:syndrome
gptkb:genetic_disorder |
| gptkbp:affects |
neck
ear |
| gptkbp:causedBy |
gptkb:genetic_disorder
|
| gptkbp:frequency |
rare
|
| gptkbp:hasGeneticBasis |
EYA1 gene mutation
SIX1 gene mutation SIX5 gene mutation |
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
#602588
|
| gptkbp:onset |
congenital
|
| gptkbp:relatedTo |
gptkb:Branchio-oto-renal_syndrome
|
| gptkbp:symptom |
hearing loss
branchial cleft cysts preauricular pits ear malformations |
| gptkbp:treatment |
supportive care
hearing aids surgical intervention |
| gptkbp:bfsParent |
gptkb:BOR_syndrome
gptkb:EYA1_gene gptkb:SIX1 |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Branchio-otic syndrome
|