Leber's congenital amaurosis
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:bfsLayer |
5
|
| gptkbp:bfsParent |
gptkb:Gene_Therapy
|
| gptkbp:affects |
gptkb:viewpoint
|
| gptkbp:associated_with |
retinal degeneration
|
| gptkbp:caused_by |
mutations in genes
|
| gptkbp:clinical_trial |
ongoing
|
| gptkbp:current_use |
gptkb:retinitis_pigmentosa
|
| gptkbp:descendant |
autosomal recessive
|
| gptkbp:first_described_by |
gptkb:Theodor_Leber
|
| https://www.w3.org/2000/01/rdf-schema#label |
Leber's congenital amaurosis
|
| gptkbp:is_popular_in |
1 in 80,000 births
|
| gptkbp:origin |
RHO
EYS LRAT ABC A4 CR B1 ELOV L4 GUC Y2 D KCN V2 PRP H2 RD H12 RP E65 US H2 A |
| gptkbp:premiered_on |
infancy
|
| gptkbp:research_focus |
gene therapy advancements
|
| gptkbp:social_responsibility |
genetic testing
|
| gptkbp:symptoms |
severe vision loss
|
| gptkbp:treatment |
gptkb:physicist
|