http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_head http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_assertion http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_provenance http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_assertion http://identifiers.org/ncbigene/1836 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/C0220726 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/DGN38e75f6d92fd8e4b9249bd263e4223aa http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1836 http://rdf.disgenet.org/resource/gda/DGN38e75f6d92fd8e4b9249bd263e4223aa http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0220726 http://rdf.disgenet.org/resource/gda/DGN38e75f6d92fd8e4b9249bd263e4223aa http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_provenance http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_assertion http://purl.org/dc/terms/description [In this review, we divide the osteochondrodysplasias into groups based on their genetic relationships, including mutations in various types of collagen, fibroblast growth factor, cartilage oligomeric matrix protein, parathyroid hormone receptor, the diastrophic dysplasia sulfate transporter, enzymes such as steroid sulfatases, transcription factor SOX9, and a cysteine proteinase, cathepsin K. We describe the major osteochondrodysplasias, define their causes and clinical manifestations, and provide the orthopaedic surgeon with an understanding of the underlying molecular defects as well as the anatomical aspects of these disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_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/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11008738 http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_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/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://purl.org/dc/terms/created 2016-05-13T12:44:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP296289.RATftVuJDiex6XuZVKDE4_wrpAhPiE2olLAI7m5Al8Hss 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