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Namespace Prefixes

PrefixIRI
n6https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n3:DOID_0110291
rdf:type
owl:Class
rdfs:subClassOf
n3:DOID_14791 n3:DOID_0050177 _:vb50942850 _:vb50942851
rdfs:label
Leber congenital amaurosis 10
wdrs:describedby
n6:doid.owl
obo:id
DOID:0110291
obo:hasDbXref
ICD10CM:H35.5 OMIM:611755
obo:hasExactSynonym
LCA10
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32.
Subject Item
_:vb50942850
rdf:type
owl:Restriction
owl:onProperty
n3:RO_0004019
owl:someValuesFrom
n3:HP_0001197
wdrs:describedby
n6:doid.owl
Subject Item
_:vb50942851
rdf:type
owl:Restriction
owl:onProperty
n3:RO_0004019
owl:someValuesFrom
n3:SO_0000704
wdrs:describedby
n6:doid.owl