@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP899877.RAj_9SlMmn8hShVbxgbimpxamvthjK61PE8kWGDfhb3fA130_head { this: np:hasAssertion dgn-np:NP899877.RAj_9SlMmn8hShVbxgbimpxamvthjK61PE8kWGDfhb3fA130_assertion; np:hasProvenance dgn-np:NP899877.RAj_9SlMmn8hShVbxgbimpxamvthjK61PE8kWGDfhb3fA130_provenance; np:hasPublicationInfo dgn-np:NP899877.RAj_9SlMmn8hShVbxgbimpxamvthjK61PE8kWGDfhb3fA130_publicationInfo; a np:Nanopublication . dgn-np:NP899877.RAj_9SlMmn8hShVbxgbimpxamvthjK61PE8kWGDfhb3fA130_assertion a np:Assertion . dgn-np:NP899877.RAj_9SlMmn8hShVbxgbimpxamvthjK61PE8kWGDfhb3fA130_provenance a np:Provenance . dgn-np:NP899877.RAj_9SlMmn8hShVbxgbimpxamvthjK61PE8kWGDfhb3fA130_publicationInfo a np:PublicationInfo . } dgn-np:NP899877.RAj_9SlMmn8hShVbxgbimpxamvthjK61PE8kWGDfhb3fA130_assertion { miriam-gene:147495 a ncit:C16612 . lld:C0085681 a ncit:C7057 . dgn-gda:DGN0fcd835d82d110a76bd2b8531f43645e sio:SIO_000628 miriam-gene:147495, lld:C0085681; a sio:SIO_001121 . } dgn-np:NP899877.RAj_9SlMmn8hShVbxgbimpxamvthjK61PE8kWGDfhb3fA130_provenance { dgn-np:NP899877.RAj_9SlMmn8hShVbxgbimpxamvthjK61PE8kWGDfhb3fA130_assertion dcterms:description "[Hyperphosphatemia-hyperostosis syndrome (HHS) is a rare autosomal recessive metabolic disorder characterized by elevated serum phosphate levels and repeated attacks of acute, painful swellings of the long bones with radiological evidence of periosteal reaction and cortical hyperostosis.]. 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:15599692; 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:NP899877.RAj_9SlMmn8hShVbxgbimpxamvthjK61PE8kWGDfhb3fA130_publicationInfo { this: dcterms:created "2014-10-02T12:41:13+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }