autosomal dominant familial exudative vitreoretinopathy
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
retina
|
| gptkbp:associatedWith |
gptkb:FZD4
gptkb:LRP5 gptkb:NDP gptkb:TSPAN12 |
| gptkbp:cause |
vision loss
retinal detachment exudation vitreous hemorrhage abnormal retinal vascular development |
| gptkbp:diagnosedBy |
genetic testing
ophthalmic examination |
| gptkbp:firstDescribed |
1969
|
| gptkbp:hasModeOfOnset |
congenital
|
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal dominant familial exudative vitreoretinopathy
|
| gptkbp:ICD-10_code |
H35.023
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
133780
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
gptkb:familial_exudative_vitreoretinopathy
|
| gptkbp:symptom |
gptkb:leukocoria
strabismus reduced visual acuity asymptomatic in early stages |
| gptkbp:synonym |
ADFEVR
FEVR, autosomal dominant |
| gptkbp:treatment |
vitrectomy
laser photocoagulation |
| gptkbp:bfsParent |
gptkb:FZD4
|
| gptkbp:bfsLayer |
8
|