@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP875463.RA6PEzlM0UD-3LdffosyV6YS_TUVO8bdA-IIXaANLwAJA
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP875463.RA6PEzlM0UD-3LdffosyV6YS_TUVO8bdA-IIXaANLwAJA130_head
{
this:
np:hasAssertion
dgn-np:NP875463.RA6PEzlM0UD-3LdffosyV6YS_TUVO8bdA-IIXaANLwAJA130_assertion
;
np:hasProvenance
dgn-np:NP875463.RA6PEzlM0UD-3LdffosyV6YS_TUVO8bdA-IIXaANLwAJA130_provenance
;
np:hasPublicationInfo
dgn-np:NP875463.RA6PEzlM0UD-3LdffosyV6YS_TUVO8bdA-IIXaANLwAJA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP875463.RA6PEzlM0UD-3LdffosyV6YS_TUVO8bdA-IIXaANLwAJA130_assertion
a
np:Assertion
.
dgn-np:NP875463.RA6PEzlM0UD-3LdffosyV6YS_TUVO8bdA-IIXaANLwAJA130_provenance
a
np:Provenance
.
dgn-np:NP875463.RA6PEzlM0UD-3LdffosyV6YS_TUVO8bdA-IIXaANLwAJA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP875463.RA6PEzlM0UD-3LdffosyV6YS_TUVO8bdA-IIXaANLwAJA130_assertion
{
miriam-gene:147495
a
ncit:C16612
.
lld:C0025517
a
ncit:C7057
.
dgn-gda:DGNb9962a9906b2f85d7e6fde383c09c343
sio:SIO_000628
miriam-gene:147495
,
lld:C0025517
;
a
sio:SIO_001121
.
}
dgn-np:NP875463.RA6PEzlM0UD-3LdffosyV6YS_TUVO8bdA-IIXaANLwAJA130_provenance
{
dgn-np:NP875463.RA6PEzlM0UD-3LdffosyV6YS_TUVO8bdA-IIXaANLwAJA130_assertion
dcterms:description
"[Hyperphosphatemia-hyperostosis syndrome (HHS) is a rare autosomal recessive metabolic disorder characterized by elevated serum phosphate levels and repeated attacks of acute, painful swellings of the long bones with radiological evidence of periosteal reaction and cortical hyperostosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:15599692
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP875463.RA6PEzlM0UD-3LdffosyV6YS_TUVO8bdA-IIXaANLwAJA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:55+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}