http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_head http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_assertion http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_assertion http://identifiers.org/ncbigene/1991 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/C1853118 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/DGNaf76ba4586c63dcdc8300ac1b6f64200 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1991 http://rdf.disgenet.org/resource/gda/DGNaf76ba4586c63dcdc8300ac1b6f64200 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1853118 http://rdf.disgenet.org/resource/gda/DGNaf76ba4586c63dcdc8300ac1b6f64200 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_assertion http://purl.org/dc/terms/description [The risk of infection is roughly inversely proportional to the circulating polymorphonuclear neutrophil count and is particularly high at counts below 0.2 G/l.When neutropenia is detected, an attempt should be made to establish the etiology, distinguishing between acquired forms (the most frequent, including post viral neutropenia and auto immune neutropenia) and congenital forms that may either be isolated or part of a complex genetic disease.Except for ethnic neutropenia, which is a frequent but mild congenital form, probably with polygenic inheritance, all other forms of congenital neutropenia are extremely rare and have monogenic inheritance, which may be X-linked or autosomal, recessive or dominant.About half the forms of congenital neutropenia with no extra-hematopoietic manifestations and normal adaptive immunity are due to neutrophil elastase (ELANE) mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_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/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21595885 http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_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/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://purl.org/dc/terms/created 2016-05-13T12:48:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP895396.RAOT4fb19y51IK-qpoJUCwJjr1lVupWSdOB-QqYJCCf_Q 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