Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:advertising |
important for early diagnosis
involves genetic counseling requires multidisciplinary approach |
| gptkbp:associatedWith |
glaucoma
neurodevelopmental disorders facial dysmorphism skeletal abnormalities umbilical abnormalities cardiac defects other congenital anomalies hypodontia |
| gptkbp:causedBy |
anterior segment dysgenesis
|
| gptkbp:clinicalTrials |
umbilical hernia
anterior chamber anomalies corneal opacities facial asymmetry dental anomalies abnormal_pupil_shape iris_hypoplasia |
| gptkbp:demographics |
rare
|
| gptkbp:diseaseResistance |
variable
genetic testing clinical examination depends on severity early intervention improves outcomes |
| gptkbp:firstDescribedBy |
Rieger
|
| gptkbp:geneticDiversity |
chromosomal abnormalities
mutations_in_the_FOXC1_gene mutations_in_the_PITX2_gene |
| https://www.w3.org/2000/01/rdf-schema#label |
Rieger syndrome
|
| gptkbp:impact |
orthodontic treatment for dental issues
surgical intervention for glaucoma |
| gptkbp:inheritsFrom |
autosomal dominant
|
| gptkbp:locatedIn |
humans
|
| gptkbp:manager |
regular eye examinations
monitoring for glaucoma supportive therapies surgical options for vision correction |
| gptkbp:relatedTo |
gptkb:Peters_anomaly
gptkb:Axenfeld-Rieger_syndrome |
| gptkbp:research |
recommended for family members
investigating environmental factors long-term outcomes of patients ongoing studies on genetic basis |
| gptkbp:researchFocus |
genetic mutations
developmental biology ophthalmology |
| gptkbp:symptoms |
teeth abnormalities
abnormalities of the umbilicus irregularities in the eye |