@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP521320.RAZJL-Q5TqxmC26XIB5yunAauHwhus8EKYVYkzN334zCg
> .
@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/
> .
@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:NP521320.RAZJL-Q5TqxmC26XIB5yunAauHwhus8EKYVYkzN334zCg130_head
{
this:
np:hasAssertion
dgn-np:NP521320.RAZJL-Q5TqxmC26XIB5yunAauHwhus8EKYVYkzN334zCg130_assertion
;
np:hasProvenance
dgn-np:NP521320.RAZJL-Q5TqxmC26XIB5yunAauHwhus8EKYVYkzN334zCg130_provenance
;
np:hasPublicationInfo
dgn-np:NP521320.RAZJL-Q5TqxmC26XIB5yunAauHwhus8EKYVYkzN334zCg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP521320.RAZJL-Q5TqxmC26XIB5yunAauHwhus8EKYVYkzN334zCg130_assertion
a
np:Assertion
.
dgn-np:NP521320.RAZJL-Q5TqxmC26XIB5yunAauHwhus8EKYVYkzN334zCg130_provenance
a
np:Provenance
.
dgn-np:NP521320.RAZJL-Q5TqxmC26XIB5yunAauHwhus8EKYVYkzN334zCg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP521320.RAZJL-Q5TqxmC26XIB5yunAauHwhus8EKYVYkzN334zCg130_assertion
{
miriam-gene:5443
a
ncit:C16612
.
lld:C0020635
a
ncit:C7057
.
dgn-gda:DGN3e0d910580f8f466a702d7a951249a84
sio:SIO_000628
miriam-gene:5443
,
lld:C0020635
;
a
sio:SIO_001121
.
}
dgn-np:NP521320.RAZJL-Q5TqxmC26XIB5yunAauHwhus8EKYVYkzN334zCg130_provenance
{
dgn-np:NP521320.RAZJL-Q5TqxmC26XIB5yunAauHwhus8EKYVYkzN334zCg130_assertion
dcterms:description
"[The patient had dysmorphic findings that are predominantly seen in del(18p) syndrome such as low nasal bridge, wide mouth, large ears, high forehead, hypopigmentation, upturned nostrils and hypopituitarism (TSH, ACTH, and GH deficiencies, and pituitary hypoplasia on magnetic resonance imaging).]. 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:16272819
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP521320.RAZJL-Q5TqxmC26XIB5yunAauHwhus8EKYVYkzN334zCg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:41+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" .
}