familial exudative vitreoretinopathy
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
eye
genetic disorder |
| gptkbp:affects |
retina
|
| gptkbp:associatedWith |
gptkb:FZD4
gptkb:LRP5 gptkb:NDP gptkb:TSPAN12 ZNF408 |
| gptkbp:cause |
vision loss
retinal detachment |
| gptkbp:diagnosedBy |
genetic testing
ophthalmic examination |
| gptkbp:firstDescribed |
1969
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial exudative vitreoretinopathy
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
| gptkbp:MeSH_ID |
gptkb:D014820
|
| gptkbp:OMIM |
133780
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:amblyopia
strabismus exudation abnormal blood vessel development in retina retinal folds |
| gptkbp:treatment |
vitrectomy
cryotherapy laser photocoagulation |
| gptkbp:UMLS_CUI |
C0017416
|
| gptkbp:bfsParent |
gptkb:FZD4
gptkb:LRP5 gptkb:RSPO3_gene |
| gptkbp:bfsLayer |
8
|