Statements (40)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
eye |
| gptkbp:affects |
children
infants optic nerve newborns anterior chamber angle |
| gptkbp:associatedWith |
CYP1B1 gene mutation
LTBP2 gene mutation TEK gene mutation |
| gptkbp:causedBy |
abnormal development of the eye's drainage system
|
| gptkbp:complication |
blindness
vision loss |
| gptkbp:field |
ophthalmology
|
| gptkbp:hasOrphanetID |
ORPHA:792
|
| https://www.w3.org/2000/01/rdf-schema#label |
primary congenital glaucoma
|
| gptkbp:ICD-10_code |
Q15.0
|
| gptkbp:inheritance |
autosomal recessive
sporadic |
| gptkbp:MeSH_ID |
D005901
|
| gptkbp:OMIM |
231300
|
| gptkbp:onset |
birth
early childhood |
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
family history
consanguinity |
| gptkbp:subspecies |
glaucoma
congenital glaucoma |
| gptkbp:symptom |
corneal clouding
photophobia excessive tearing blepharospasm enlarged eye |
| gptkbp:treatment |
surgery
medications goniotomy trabeculectomy trabeculotomy |
| gptkbp:bfsParent |
gptkb:TIE2
|
| gptkbp:bfsLayer |
7
|