http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_head http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_assertion http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_assertion http://identifiers.org/ncbigene/2688 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/C0019247 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#DGNe1e401adc6ee91fee12a02c2d0542c9a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2688 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe1e401adc6ee91fee12a02c2d0542c9a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0019247 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe1e401adc6ee91fee12a02c2d0542c9a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_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#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_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#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23304810 http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_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#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_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#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://purl.org/dc/terms/created 2014-10-02T12:40:24+02:00 http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP823916.RAgYMnwIClGhYbetoVqWRd9Mtg0WEDnrB-jtKmOe-kClU 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