biallelic RPE65 mutation-associated retinal dystrophy
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:retinal_dystrophy |
| gptkbp:affects |
retina
|
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
retinitis pigmentosa |
| gptkbp:causedBy |
biallelic mutation in RPE65 gene
|
| gptkbp:containsGene |
gptkb:RPE65
|
| gptkbp:firstDescribed |
1997
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
204100
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
vision loss
night blindness progressive visual field loss |
| gptkbp:treatment |
gptkb:gene_therapy
gptkb:voretigene_neparvovec |
| gptkbp:bfsParent |
gptkb:voretigene_neparvovec
|
| gptkbp:bfsLayer |
7
|
| http://www.w3.org/2000/01/rdf-schema#label |
biallelic RPE65 mutation-associated retinal dystrophy
|