[ { "@graph" : [ { "@id" : "http://identifiers.org/ensembl/ENSG00000109929", "@type" : [ "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612" ], "http://www.w3.org/2000/01/rdf-schema#label" : [ { "@value" : "SC5DL" } ] }, { "@id" : "http://purl.org/np/RAR7MysqlKMQ5SPOSEK-jh7GLgbv8CDQsVKDvOwf0Y0J4#association", "@type" : [ "http://semanticscience.org/resource/SIO_000983" ], "http://semanticscience.org/resource/SIO_000628" : [ { "@id" : "http://identifiers.org/ensembl/ENSG00000109929" }, { "@id" : "http://identifiers.org/omim/607330" } ] } ], "@id" : "http://purl.org/np/RAR7MysqlKMQ5SPOSEK-jh7GLgbv8CDQsVKDvOwf0Y0J4#assertion" }, { "@graph" : [ { "@id" : "http://purl.org/np/RAR7MysqlKMQ5SPOSEK-jh7GLgbv8CDQsVKDvOwf0Y0J4", "@type" : [ "http://www.nanopub.org/nschema#Nanopublication" ], "http://www.nanopub.org/nschema#hasAssertion" : [ { "@id" : "http://purl.org/np/RAR7MysqlKMQ5SPOSEK-jh7GLgbv8CDQsVKDvOwf0Y0J4#assertion" } ], "http://www.nanopub.org/nschema#hasProvenance" : [ { "@id" : "http://purl.org/np/RAR7MysqlKMQ5SPOSEK-jh7GLgbv8CDQsVKDvOwf0Y0J4#provenance" } ], "http://www.nanopub.org/nschema#hasPublicationInfo" : [ { "@id" : "http://purl.org/np/RAR7MysqlKMQ5SPOSEK-jh7GLgbv8CDQsVKDvOwf0Y0J4#publicationInfo" } ] } ], "@id" : "http://purl.org/np/RAR7MysqlKMQ5SPOSEK-jh7GLgbv8CDQsVKDvOwf0Y0J4#head" }, { "@graph" : [ { "@id" : "http://identifiers.org/pubmed/12189593", "http://purl.org/dc/terms/title" : [ { "@value" : "Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase" } ] }, { "@id" : "http://purl.org/np/RAR7MysqlKMQ5SPOSEK-jh7GLgbv8CDQsVKDvOwf0Y0J4#assertion", "http://semanticscience.org/resource/SIO_000253" : [ { "@id" : "http://identifiers.org/pubmed/12189593" } ] } ], "@id" : "http://purl.org/np/RAR7MysqlKMQ5SPOSEK-jh7GLgbv8CDQsVKDvOwf0Y0J4#provenance" }, { "@graph" : [ { "@id" : "http://purl.org/np/RAR7MysqlKMQ5SPOSEK-jh7GLgbv8CDQsVKDvOwf0Y0J4", "http://purl.org/dc/terms/created" : [ { "@type" : "http://www.w3.org/2001/XMLSchema#dateTime", "@value" : "2018-04-05T10:17:11.353+02:00" } ], "http://purl.org/dc/terms/rights" : [ { "@id" : "http://creativecommons.org/publicdomain/zero/1.0/" } ], "http://purl.org/pav/authoredBy" : [ { "@id" : "http://orcid.org/0000-0001-6048-1457" }, { "@id" : "http://orcid.org/0000-0002-7770-620X" } ], "http://purl.org/pav/createdBy" : [ { "@id" : "http://orcid.org/0000-0001-7542-0286" } ], "http://www.w3.org/ns/prov#wasGeneratedBy" : [ { "@id" : "http://purl.org/np/RAR7MysqlKMQ5SPOSEK-jh7GLgbv8CDQsVKDvOwf0Y0J4#activity" } ] }, { "@id" : "http://purl.org/np/RAR7MysqlKMQ5SPOSEK-jh7GLgbv8CDQsVKDvOwf0Y0J4#activity", "@type" : [ "http://www.w3.org/ns/prov#Activity" ], "http://www.w3.org/ns/prov#atLocation" : [ { "@id" : "https://www.wikidata.org/entity/Q1137652" } ] } ], "@id" : "http://purl.org/np/RAR7MysqlKMQ5SPOSEK-jh7GLgbv8CDQsVKDvOwf0Y0J4#publicationInfo" } ]