Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
retinal disease |
| gptkbp:affects |
retina
|
| gptkbp:alsoKnownAs |
gptkb:SFD
|
| gptkbp:associatedWith |
age-related macular degeneration
|
| gptkbp:firstDescribed |
gptkb:Arnold_Sorsby
1949 |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Sorsby fundus dystrophy
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:TIMP3_gene
|
| gptkbp:OMIM |
136900
|
| gptkbp:onset |
adulthood
|
| gptkbp:symptom |
night blindness
progressive vision loss |
| gptkbp:treatment |
anti-VEGF therapy
|
| gptkbp:bfsParent |
gptkb:TIMP3
|
| gptkbp:bfsLayer |
7
|