Statements (25)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
syndrome |
gptkbp:affects |
neck
ear |
gptkbp:causedBy |
genetic disorder
|
gptkbp:frequency |
rare
|
gptkbp:hasGeneticBasis |
EYA1 gene mutation
SIX1 gene mutation SIX5 gene mutation |
https://www.w3.org/2000/01/rdf-schema#label |
Branchio-otic syndrome
|
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
|