Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:alsoKnownAs |
Branchio-naso-ocular syndrome
|
| gptkbp:causedBy |
mutations in the SIX1 gene
|
| gptkbp:characterizedBy |
branchial anomalies
nasal anomalies ocular anomalies |
| gptkbp:firstDescribed |
1993
|
| https://www.w3.org/2000/01/rdf-schema#label |
BNAR syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
608892
|
| gptkbp:specialty |
genetics
otolaryngology |
| gptkbp:symptom |
hearing loss
coloboma branchial cleft cysts preauricular pits lacrimal duct obstruction nasal pits |
| gptkbp:bfsParent |
gptkb:FREM1
|
| gptkbp:bfsLayer |
7
|