http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_head http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_assertion http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_provenance http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_assertion http://identifiers.org/ncbigene/414 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/C0018798 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/DGN5e97703492f7f9352f5df32a4f9c12f1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/414 http://rdf.disgenet.org/resource/gda/DGN5e97703492f7f9352f5df32a4f9c12f1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018798 http://rdf.disgenet.org/resource/gda/DGN5e97703492f7f9352f5df32a4f9c12f1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_provenance http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_assertion http://purl.org/dc/terms/description [We report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/3565473 http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://purl.org/dc/terms/created 2015-08-25T14:40:04+02:00 http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP253349.RAe0JwJddJw4m6TUWzcNCROeKmD_nNc554YrdNDOfFZc8 http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0