Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affectsOrgan |
gptkb:kidney
eye |
| gptkbp:complication |
blindness
end-stage renal disease |
| gptkbp:diagnosedBy |
genetic testing
renal biopsy ophthalmologic examination |
| gptkbp:firstDescribed |
1961
|
| gptkbp:frequency |
rare
|
| gptkbp:hasOrphanetID |
ORPHA:2472
|
| https://www.w3.org/2000/01/rdf-schema#label |
Senior-Loken syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D020159
|
| gptkbp:mutationAssociatedWith |
IQCB1 gene
NPHP1 gene NPHP5 gene |
| gptkbp:namedAfter |
A. Loken
F. Senior |
| gptkbp:OMIM |
266900
|
| gptkbp:symptom |
retinal degeneration
nephronophthisis |
| gptkbp:synonym |
nephronophthisis and retinitis pigmentosa syndrome
|
| gptkbp:treatment |
kidney transplantation
symptomatic management |
| gptkbp:bfsParent |
gptkb:CEP290
gptkb:CEP290_gene |
| gptkbp:bfsLayer |
7
|