Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
ocular disorder |
| gptkbp:affects |
eye
|
| gptkbp:associatedWith |
nystagmus
glaucoma foveal hypoplasia keratopathy |
| gptkbp:canBeSporadic |
yes
|
| gptkbp:canBeSyndromic |
yes
|
| gptkbp:characterizedBy |
partial or complete absence of the iris
|
| gptkbp:diagnosedBy |
genetic testing
clinical examination |
| gptkbp:firstDescribed |
1818
|
| https://www.w3.org/2000/01/rdf-schema#label |
aniridia
|
| gptkbp:ICD-10_code |
Q13.1
|
| gptkbp:inheritance |
autosomal dominant trait
|
| gptkbp:mutationAssociatedWith |
PAX6 gene
|
| gptkbp:prevalence |
rare
|
| gptkbp:syndromicForm |
gptkb:WAGR_syndrome
|
| gptkbp:treatment |
symptomatic
management of complications |
| gptkbp:WAGR_stands_for |
Wilms tumor, Aniridia, Genitourinary anomalies, and mental Retardation
|
| gptkbp:bfsParent |
gptkb:Wilms_tumor
gptkb:WAGR_syndrome |
| gptkbp:bfsLayer |
6
|