Karyotypic sex - xiaofengleo/phenopackets-rdf-schema GitHub Wiki

Semantic model figure

---

ShEx

PREFIX : <http://purl.org/ejp-rd/phenopackets-rdf-schema/v010/shex/>
PREFIX obo: <http://purl.obolibrary.org/obo/>
PREFIX sio: <http://semanticscience.org/resource/>
PREFIX xsd: <http://www.w3.org/2001/XMLSchema#>

:individualShape IRI {
  a [obo:NCBITaxon_9606];
  sio:SIO_000008 @:karotypesexShape
}

:karotypesexShape IRI {
  a [sio:SIO_000614];
  sio:SIO_000332 [obo:NCIT_C25215];
  sio:SIO_000300 ["UNKNOWN_KARYOTYPE" "XX" "XY" "XO" "XXY" "XXX" "XXYY" "XXXY" "XXXX" "XYY" "OTHER_KARYOTYPE"];
}

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Example turtle

@prefix : <http://purl.org/ejp-rd/phenopackets-rdf-schema/v010/example-rdf/> .
@prefix obo: <http://purl.obolibrary.org/obo/> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#>.

:individual1 a obo:NCBITaxon_9606;
  sio:SIO_000008 :karotypesex1 .

:karotypesex1 a sio:SIO_000614; # attribute
  sio:SIO_000332 obo:NCIT_C25215 ; # is about
  sio:SIO_000300 "XXXY"^^xsd:string .  # has value