http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_head http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_assertion http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_provenance http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_assertion http://identifiers.org/ncbigene/427 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0033806 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNfb89adca6b241c2362315d473c643f48 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/427 http://rdf.disgenet.org/resource/gda/DGNfb89adca6b241c2362315d473c643f48 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0033806 http://rdf.disgenet.org/resource/gda/DGNfb89adca6b241c2362315d473c643f48 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_provenance http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_assertion http://purl.org/dc/terms/description [Given that tricho-rhino-phalangeal syndrome (TRPS) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, brachydactyly and, in some patients, intellectual disability) that lead to their misdiagnosis in some cases, our objective was to identify clinical, biochemical or radiological signs that could help to distinguish these two syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24945424 http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://purl.org/dc/terms/created 2016-05-13T12:50:47+02:00 http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1193749.RAs60meSP6VLD1lBVLCNh8bnTKt7MjbKFM1RIoG3zCP0k http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0