@prefix bfo: <
http://purl.obolibrary.org/obo/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP272161.RAqSxZ0ERzwMAnzrAukIMfmGHLSaS8ErbEyLgydiC_Grc
> .
@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 wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP272161.RAqSxZ0ERzwMAnzrAukIMfmGHLSaS8ErbEyLgydiC_Grc130_head
{
this:
np:hasAssertion
dgn-np:NP272161.RAqSxZ0ERzwMAnzrAukIMfmGHLSaS8ErbEyLgydiC_Grc130_assertion
;
np:hasProvenance
dgn-np:NP272161.RAqSxZ0ERzwMAnzrAukIMfmGHLSaS8ErbEyLgydiC_Grc130_provenance
;
np:hasPublicationInfo
dgn-np:NP272161.RAqSxZ0ERzwMAnzrAukIMfmGHLSaS8ErbEyLgydiC_Grc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP272161.RAqSxZ0ERzwMAnzrAukIMfmGHLSaS8ErbEyLgydiC_Grc130_assertion
a
np:Assertion
.
dgn-np:NP272161.RAqSxZ0ERzwMAnzrAukIMfmGHLSaS8ErbEyLgydiC_Grc130_provenance
a
np:Provenance
.
dgn-np:NP272161.RAqSxZ0ERzwMAnzrAukIMfmGHLSaS8ErbEyLgydiC_Grc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP272161.RAqSxZ0ERzwMAnzrAukIMfmGHLSaS8ErbEyLgydiC_Grc130_assertion
{
miriam-gene:55764
a
ncit:C16612
.
lld:C0011989
a
ncit:C7057
.
dgn-gda:DGN37b7017f7c079a25d53c5a0229cdcaec
sio:SIO_000628
miriam-gene:55764
,
lld:C0011989
;
a
sio:SIO_001121
.
}
dgn-np:NP272161.RAqSxZ0ERzwMAnzrAukIMfmGHLSaS8ErbEyLgydiC_Grc130_provenance
{
dgn-np:NP272161.RAqSxZ0ERzwMAnzrAukIMfmGHLSaS8ErbEyLgydiC_Grc130_assertion
dcterms:description
"[Camurati-Engelmann disease (CED [MIM 131300]), or progressive diaphyseal dysplasia, is an autosomal dominant sclerosing bone dysplasia characterized by progressive bone formation along the periosteal and endosteal surfaces at the diaphyseal and metaphyseal regions of long bones and cranial hyperostosis, particularly at the skull base.]. 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:10631145
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
bfo:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
xsd:date
.
dgn-void:source_evidence_literature
a
bfo:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP272161.RAqSxZ0ERzwMAnzrAukIMfmGHLSaS8ErbEyLgydiC_Grc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:49+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}