http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_head http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_assertion http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_assertion http://identifiers.org/ncbigene/6473 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/C0432072 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#DGN8103b5a84d0be02c764ea1ee33c51ed6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6473 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8103b5a84d0be02c764ea1ee33c51ed6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0432072 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8103b5a84d0be02c764ea1ee33c51ed6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_assertion http://purl.org/dc/terms/description [The following recommendations were suggested by our multidisciplinary team: (i) a careful family history, measurements of body proportions and detection of any dysmorphic features are important for the suspect of a genetic disorder ,(ii)the presence of any combination of the following physical findings, such as reduced arm span/height ratio, increased sitting height/height ratio, above average BMI, Madelung deformity, cubitus valgus, short or bowed forearm, dislocation of the ulna at the elbow, or the appearance of muscular hypertrophy, should prompt the clinician to obtain a molecular analysis of the SHOX region, (iii) it is of practical importance to recognise early or mild signs of Madelung deformity on hand and wrist radiographs, (iv) growth hormone ,after stimulation test, is usually normal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_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#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23304810 http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_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#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_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#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://purl.org/dc/terms/created 2014-10-02T12:36:06+02:00 http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP414123.RA8f4UCui8Nnk8N4b6zFElM1zQt_-0f8PSYAz5MXmEqB8 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