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http://purl.uniprot.org/diseases/6540http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/6540http://www.w3.org/2000/01/rdf-schema#comment"A neurologic disorder characterized by variable combinations of epileptic seizure, and a varying degree of intellectual disability and developmental delay. Some patients have dysmorphic facial features or mild skeletal anomalies. In general, males are more severely affected than females, although there is evidence for incomplete penetrance in both sexes."xsd:string
http://purl.uniprot.org/diseases/6540http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/887
http://purl.uniprot.org/diseases/6540http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/301091
http://purl.uniprot.org/diseases/6540http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D004827
http://purl.uniprot.org/diseases/6540http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/CN322486
http://purl.uniprot.org/diseases/6540http://www.w3.org/2004/02/skos/core#prefLabel"Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features"xsd:string
http://purl.uniprot.org/diseases/6540http://purl.uniprot.org/core/mnemonic"EPILX2"xsd:string
http://purl.uniprot.org/uniprot/P34903#SIP5D04DC9999B4D936http://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/6540
http://purl.uniprot.org/annotation/VAR_087846http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/6540
http://purl.uniprot.org/annotation/VAR_087847http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/6540
http://purl.uniprot.org/annotation/VAR_087848http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/6540
http://purl.uniprot.org/annotation/VAR_087849http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/6540
http://purl.uniprot.org/uniprot/#_895FEC7A00EBDCA5_up.disease_407D60F3826508E9http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/6540