PREFIX prov: <http://www.w3.org/ns/prov#>
PREFIX p: <http://www.wikidata.org/prop/>
PREFIX ps: <http://www.wikidata.org/prop/statement/>
PREFIX obo: <http://purl.obolibrary.org/obo/>
PREFIX xsd: <http://www.w3.org/2001/XMLSchema#>
PREFIX wd: <http://www.wikidata.org/entity/>
PREFIX wdt: <http://www.wikidata.org/prop/direct/>
PREFIX pr: <http://www.wikidata.org/prop/reference/>
PREFIX identorg: <http://identifiers.org/doid/>
PREFIX orphanet: <http://www.orpha.net/ORDO/Orphanet>
PREFIX icd: <https://icd.who.int/>
PREFIX umls: <http://linkedlifedata.com/resource/umls>
start=@<#gene-wiki-disease-item>
<#gene-wiki-disease-item>
{
p:P279 @<#P279_subclassof>+ ;
p:P279 . * ;
p:P2888 @<#P2888_exactmatch>+ ;
p:P780 @<#P780_symptoms>* ;
# Identifiers
p:P699 @<#P699_disease_ontology> ;
p:P492 @<#P492_omim_id>* ;
p:P1550 @<#P1550_orphanet_id>* ;
p:P1748 @<#P1748_nci_theraurus_id>* ;
p:P4229 @<#P4229_icd10-cm>* ;
p:P5806 @<#P5806-snomed-ct>* ;
}
## Shapes describing statements in detail.
<#P279_subclassof> {
ps:P279 [wd:~] ;
prov:wasDerivedFrom @<#disease-ontology-reference> OR
@<#mondo-disease-reference> OR @<#reference> + ;
}
<#P492_omim_id> {
ps:P492 xsd:string ;
}
<#P699_disease_ontology> {
ps:P699 xsd:string ;
prov:wasDerivedFrom @<#disease-ontology-reference>
OR @<#mondo-disease-reference> OR @<#reference> + ;
}
<#P780_symptoms> {
ps:P780 {} ; # TODO create and import EntitySchema for the Symptom Ontology
}
<#P1550_orphanet_id> {
ps:P1550 xsd:string ;
}
<#P1748_nci_theraurus_id> {
ps:P1748 xsd:string ;
}
<#P2888_exactmatch> {
ps:P2888 [obo:~ identorg:~ orphanet:~ icd:~ umls:~ ] ;
}
<#P4229_icd10-cm> {
ps:P4229 xsd:string ;
prov:wasDerivedFrom @<#disease-ontology-reference>
OR @<#mondo-disease-reference> OR @<#reference> + ;
}
<#P5270_mondo_id> {
ps:P5270 xsd:string ;
prov:wasDerivedFrom @<#disease-ontology-reference>
OR @<#mondo-disease-reference> OR @<#reference> + ;
}
<#P5806-snomed-ct> {
ps:P5806 xsd:string ;
prov:wasDerivedFrom @<#disease-ontology-reference>
OR @<#mondo-disease-reference> OR @<#reference> + ;
}
## References
<#reference> {}
<#disease-ontology-reference> { # reference to a term from the disease ontology term
pr:P248 [ wd:Q5282129 ] ; # stated in [P248] Disease ontology
pr:P699 xsd:string ; # Disease Ontology ID
pr:P813 xsd:dateTime ; # Date of retrieval
}
<#identifiers-org-reference> { # reference to a identifiers.org
pr:P248 [ wd:Q16335166 ] ; # stated in [P248] identifiers.org [Q16335166] ;
pr:P854 [<https://registry.identifiers.org/registry/doid>] ;
}
<#mondo-disease-reference> { # reference to a term from the MonDo ontology
pr:P248 [ wd:Q27468140 wd:Q55345445 ] ; # stated in [P248] Mondo disease ontology [Q27468140]
pr:P5270 xsd:string ; # Mondo ID
pr:P813 xsd:dateTime ; # Date of retrieval
}
<#symptom-ontology-reference> { # reference to a term from the Symptom Ontology
pr:P248 [ wd:Q5282129 ] ; # stated in [P248] Symptom ontology [Q27468140]
pr:P8656 xsd:string ; # Symptom Ontology ID
pr:P813 xsd:dateTime ; # Date of retrieval
}