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About:
clgr:
Leber_congenital_amaurosis
Property
Value
rdf:
type
owl:
NamedIndividual
Rare disease
Cell surface receptor deficiency
rdfs:
label
Leber congenital amaurosis
owl:
sameAs
dbr:
Leber_congenital_amaurosis
prov:
wasDerivedFrom
http://en.wikipedia.org/wiki/Nystagmus
http://en.wikipedia.org/wiki/Eye_disease
http://en.wikipedia.org/wiki/Adeno-associated_virus
http://en.wikipedia.org/wiki/Category:Rare_diseases
http://en.wikipedia.org/wiki/Color_blindness
http://en.wikipedia.org/wiki/List_of_diseases_(L)
http://en.wikipedia.org/wiki/Glutamate_receptor
http://en.wikipedia.org/wiki/Electroretinography
http://en.wikipedia.org/wiki/Cherry-red_spot
http://en.wikipedia.org/wiki/Chromosome_19
http://en.wikipedia.org/wiki/Ciliopathy
http://en.wikipedia.org/wiki/Category:Cell_surface_receptor_deficiencies
skos:
prefLabel
Leber congenital amaurosis
skos:
altLabel
Leber's congenital amaurosis
Leber's disease
clgo:
diseasesDB
33192
clgo:
geneReviewsId
NBK1298
clgo:
geneReviewsName
Leber Congenital Amaurosis
clgo:
icd10
H35.5
clgo:
icd9
362.76
clgo:
medicalCause
Genetics
clgo:
omim
204000