Leber congenital amaurosis 1
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
inherited retinal dystrophy |
| gptkbp:affects |
retina
|
| gptkbp:containsGene |
gptkb:GUCY2D
|
| gptkbp:hasOrphanetID |
791
|
| https://www.w3.org/2000/01/rdf-schema#label |
Leber congenital amaurosis 1
|
| gptkbp:ICD-10_code |
H35.5
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
gptkb:Theodor_Leber
|
| gptkbp:OMIM |
204000
|
| gptkbp:onset |
congenital
|
| gptkbp:symptom |
nystagmus
photophobia severe visual impairment amaurotic pupils |
| gptkbp:synonym |
gptkb:LCA1
Leber congenital amaurosis type 1 |
| gptkbp:bfsParent |
gptkb:LCA1
|
| gptkbp:bfsLayer |
7
|