Congenital stationary night blindness
GPTKB entity
Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affectedOrgan |
retina
|
| gptkbp:affects |
visual system
|
| gptkbp:alsoKnownAs |
CSNB
|
| gptkbp:associatedWith |
gptkb:NYX
TRPM1 GRM6 GNAT1 CACNA1F |
| gptkbp:cause |
genetic disorder
|
| gptkbp:diagnosedBy |
electroretinography
|
| gptkbp:firstDescribed |
19th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
Congenital stationary night blindness
|
| gptkbp:ICD-10_code |
H53.3
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
| gptkbp:MeSH_ID |
D009638
|
| gptkbp:OMIM |
310500
|
| gptkbp:onset |
birth
|
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
non-progressive
|
| gptkbp:symptom |
nystagmus
myopia night blindness reduced visual acuity |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Nightblindness
gptkb:P20333 |
| gptkbp:bfsLayer |
8
|