http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA#head
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA#assertion
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA#provenance
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA#assertion
http://rdf.disgenet.org/resource/gda/DGN923f212ded144c1f890499c6a5cfcef1
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5741
http://rdf.disgenet.org/resource/gda/DGN923f212ded144c1f890499c6a5cfcef1
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0020438
http://rdf.disgenet.org/resource/gda/DGN923f212ded144c1f890499c6a5cfcef1
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001123
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA#provenance
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA#assertion
http://purl.org/dc/terms/description
[The characteristic features are rickets, short stature, increased renal phosphate clearance (the ratio between the maximal tubular reabsorption rate for phosphorus and the glomerular filtration rate [TmP/GFR] is 2 to 4 S.D. below the age-related mean), hypercalciuria (8.6 mg of urinary calcium per kilogram of body weight per 24 hours vs. the upper normal value of 4.0), normal serum calcium levels, increased gastrointestinal absorption of calcium and phosphorus, an elevated serum concentration of 1,25-dihydroxyvitamin D (390 +/- 99 pg per milliliter vs. the upper normal value of 110), and suppressed parathyroid function (an immunoreactive parathyroid hormone level of 0.33 +/- 0.1 ng per milliliter and a cyclic AMP level of 1.39 +/- 0.12 nmol per deciliter of glomerular filtrate vs. the lower normal values of 0.3 and 1.5, respectively).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/2983203
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://purl.org/dc/terms/created
2017-10-17T13:15:46+02:00
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP877637.RAMcdopo9DevX1gKNhnQqSxPIGlPdWZeW-4DvUTeq-ozA
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0