http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_head http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_assertion http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_provenance http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_assertion http://identifiers.org/ncbigene/545 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/C0342573 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/gene-disease-association.ttl#DGNf333947a5013696a762da676a8b781c7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/545 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf333947a5013696a762da676a8b781c7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0342573 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf333947a5013696a762da676a8b781c7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_provenance http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_assertion http://purl.org/dc/terms/description [Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate short stature, and pronounced microcephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19643772 http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://purl.org/dc/terms/created 2014-10-02T12:38:24+02:00 http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP636546.RAkUgVWMBxeFoRa88G0HbS6E6e36r1YeUKZ0EaWdSSLec http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0