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Leber congenital amaurosis
URI:
https://gptkb.org/entity/Leber_congenital_amaurosis
GPTKB entity
Statements (44)
Predicate
Object
gptkbp:instanceOf
genetic disorder
rare disease
retinal dystrophy
gptkbp:affects
children
retina
gptkbp:approved_gene_therapy
gptkb:voretigene_neparvovec
gptkbp:category
blindness
hereditary eye disease
pediatric disease
gptkbp:cause
severe vision loss
gptkbp:diagnosedBy
genetic testing
electroretinography
ophthalmic examination
gptkbp:firstDescribed
1869
gptkbp:frequency
2-3 per 100,000 births
gptkbp:hasOrphanetID
ORPHA58
https://www.w3.org/2000/01/rdf-schema#label
Leber congenital amaurosis
gptkbp:inheritance
autosomal recessive
gptkbp:MeSH_ID
D007882
gptkbp:mutationAssociatedWith
gptkb:AIPL1_gene
gptkb:CEP290_gene
gptkb:CRB1_gene
gptkb:CRX_gene
gptkb:GUCY2D_gene
gptkb:IMPDH1_gene
gptkb:LRAT_gene
gptkb:RDH12_gene
gptkb:RPE65_gene
gptkb:TULP1_gene
gptkbp:namedAfter
gptkb:Theodor_Leber
gptkbp:OMIM
204000
gptkbp:onset
infancy
gptkbp:symptom
nystagmus
hyperopia
amaurosis
keratoconus
ocular-digital sign
photophobia
poor pupillary response
gptkbp:treatment
gene therapy
visual aids
gptkbp:bfsParent
gptkb:virus
gptkb:Editas_Medicine
gptkbp:bfsLayer
5