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DESCRIBE <http://purl.uniprot.org/SHA-384/E4BC55ACC9A9F70294682E93A8D37A5D8BCFD806852D3D45CF5D083136EE57B4F7A8FBBD6251ADA1D0C5778EFD65B516>
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http://purl.uniprot.org/SHA-384/E4BC55ACC9A9F70294682E93A8D37A5D8BCFD806852D3D45CF5D083136EE57B4F7A8FBBD6251ADA1D0C5778EFD65B516
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/E4BC55ACC9A9F70294682E93A8D37A5D8BCFD806852D3D45CF5D083136EE57B4F7A8FBBD6251ADA1D0C5778EFD65B516
http://www.w3.org/2000/01/rdf-schema#comment
"Ehlers Danlos syndrome in two children was confirmed by mutations in PLOD1 gene. Initially patients were thought to have either a diagnosis of classical EDS (cEDS) or a neuromuscular disorder due to absence of (congenital) scoliosis."
xsd:string
http://purl.uniprot.org/uniprot/#_5B745A45785F84F30F386F9BBE9A48A1EF9A5B0E72D3A4974FA5104996C58A09D2CE8F88624996FE74C456E9BBB61357
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/E4BC55ACC9A9F70294682E93A8D37A5D8BCFD806852D3D45CF5D083136EE57B4F7A8FBBD6251ADA1D0C5778EFD65B516
http://purl.uniprot.org/uniprot/Q9UL44
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E4BC55ACC9A9F70294682E93A8D37A5D8BCFD806852D3D45CF5D083136EE57B4F7A8FBBD6251ADA1D0C5778EFD65B516
http://purl.uniprot.org/uniprot/#_Q9UL44-mappedCitation-28757364
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/E4BC55ACC9A9F70294682E93A8D37A5D8BCFD806852D3D45CF5D083136EE57B4F7A8FBBD6251ADA1D0C5778EFD65B516