@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP450703.RAhEHfdk4U-Nrav63PE8OUAnEJ_kIX7ct2atuUsWdxvBY
> .
@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:NP450703.RAhEHfdk4U-Nrav63PE8OUAnEJ_kIX7ct2atuUsWdxvBY130_head
{
this:
np:hasAssertion
dgn-np:NP450703.RAhEHfdk4U-Nrav63PE8OUAnEJ_kIX7ct2atuUsWdxvBY130_assertion
;
np:hasProvenance
dgn-np:NP450703.RAhEHfdk4U-Nrav63PE8OUAnEJ_kIX7ct2atuUsWdxvBY130_provenance
;
np:hasPublicationInfo
dgn-np:NP450703.RAhEHfdk4U-Nrav63PE8OUAnEJ_kIX7ct2atuUsWdxvBY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP450703.RAhEHfdk4U-Nrav63PE8OUAnEJ_kIX7ct2atuUsWdxvBY130_assertion
a
np:Assertion
.
dgn-np:NP450703.RAhEHfdk4U-Nrav63PE8OUAnEJ_kIX7ct2atuUsWdxvBY130_provenance
a
np:Provenance
.
dgn-np:NP450703.RAhEHfdk4U-Nrav63PE8OUAnEJ_kIX7ct2atuUsWdxvBY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP450703.RAhEHfdk4U-Nrav63PE8OUAnEJ_kIX7ct2atuUsWdxvBY130_assertion
{
miriam-gene:545
a
ncit:C16612
.
lld:C0265202
a
ncit:C7057
.
dgn-gda:DGNcc929002a4ba4c19612b49d709b2203b
sio:SIO_000628
miriam-gene:545
,
lld:C0265202
;
a
sio:SIO_001121
.
}
dgn-np:NP450703.RAhEHfdk4U-Nrav63PE8OUAnEJ_kIX7ct2atuUsWdxvBY130_provenance
{
dgn-np:NP450703.RAhEHfdk4U-Nrav63PE8OUAnEJ_kIX7ct2atuUsWdxvBY130_assertion
dcterms:description
"[Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate short stature, and pronounced microcephaly.]. 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:19643772
;
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:NP450703.RAhEHfdk4U-Nrav63PE8OUAnEJ_kIX7ct2atuUsWdxvBY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:29+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" .
}