autosomal recessive familial exudative vitreoretinopathy
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
eye
genetic disorder |
| gptkbp:affects |
retina
|
| gptkbp:associatedWith |
gptkb:FZD4
gptkb:LRP5 gptkb:TSPAN12 |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal recessive familial exudative vitreoretinopathy
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
601813
|
| gptkbp:onset |
childhood
|
| gptkbp:symptom |
vision loss
retinal detachment exudation |
| gptkbp:synonym |
autosomal recessive FEVR
|
| gptkbp:treatment |
vitrectomy
laser photocoagulation |
| gptkbp:bfsParent |
gptkb:FZD4
|
| gptkbp:bfsLayer |
8
|