Statements (40)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:advertising |
important
|
| gptkbp:associatedWith |
glaucoma
heart defects teeth abnormalities umbilical abnormalities iris_abnormalities |
| gptkbp:causedBy |
anterior segment dysgenesis
|
| gptkbp:clinicalTrials |
ongoing
|
| gptkbp:demographics |
rare disorder
|
| gptkbp:diseaseResistance |
genetic testing
clinical examination |
| gptkbp:firstDescribedBy |
Axenfeld_in_1930
Rieger_in_1965 |
| gptkbp:geneticDiversity |
recommended
mutations_in_FOXC1_gene mutations_in_PITX2_gene |
| https://www.w3.org/2000/01/rdf-schema#label |
Axenfeld-Rieger syndrome
|
| gptkbp:impact |
surgical intervention
vision correction management of glaucoma |
| gptkbp:nobleFamily |
autosomal dominant
|
| gptkbp:populationTrend |
both genders
all ethnicities |
| gptkbp:relatedPatent |
scoliosis
aniridia congenital heart disease Peter's_anomaly |
| gptkbp:research |
available
|
| gptkbp:researchFocus |
genetic counseling
early diagnosis long-term outcomes treatment options patient support |
| gptkbp:supports |
available
|
| gptkbp:symptoms |
facial dysmorphism
anterior chamber anomalies dental anomalies hypoplasia of the iris pupillary abnormalities |