http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_head http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_assertion http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_provenance http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_assertion http://identifiers.org/ncbigene/8481 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/C2749019 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/DGNb4bbb32f5ce2d1a3e2e06579373a925d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8481 http://rdf.disgenet.org/resource/gda/DGNb4bbb32f5ce2d1a3e2e06579373a925d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2749019 http://rdf.disgenet.org/resource/gda/DGNb4bbb32f5ce2d1a3e2e06579373a925d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_provenance http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_assertion http://purl.org/dc/terms/description [The present patients and the previously reported male patients from four families (clinical OFD1; Simpson-Golabi-Behmel syndrome, type 2 with an OFD1 mutation; Joubert syndrome-10 with OFD1 mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (macrocephaly, depressed or broad nasal bridge, and lip abnormalities), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and brain malformations (hypoplasia or agenesis of corpus callosum and/or cerebellar vermis and posterior fossa abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_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/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22548404 http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_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/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://purl.org/dc/terms/created 2015-08-25T14:45:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP796844.RAUezqZ4sgsukkuZTcyR5YAhRmEzvKgM-oVFiet9PihaI 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