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http://purl.uniprot.org/diseases/5090http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/5090http://www.w3.org/2000/01/rdf-schema#comment"A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE56 is an autosomal dominant condition."xsd:string
http://purl.uniprot.org/diseases/5090http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/887
http://purl.uniprot.org/diseases/5090http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/617665
http://purl.uniprot.org/diseases/5090http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D013036
http://purl.uniprot.org/diseases/5090http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/CN477042
http://purl.uniprot.org/diseases/5090http://www.w3.org/2004/02/skos/core#prefLabel"Developmental and epileptic encephalopathy 56"xsd:string
http://purl.uniprot.org/diseases/5090http://purl.uniprot.org/core/mnemonic"DEE56"xsd:string
http://purl.uniprot.org/diseases/5090http://www.w3.org/2004/02/skos/core#altLabel"EIEE56"xsd:string
http://purl.uniprot.org/diseases/5090http://www.w3.org/2004/02/skos/core#altLabel"Epileptic encephalopathy, early infantile, 56"xsd:string
http://purl.uniprot.org/uniprot/P61981#SIP71136B51EBF953FDhttp://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/5090
http://purl.uniprot.org/annotation/VAR_080224http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5090
http://purl.uniprot.org/annotation/VAR_080226http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5090
http://purl.uniprot.org/annotation/VAR_080227http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/5090
http://purl.uniprot.org/uniprot/#_8437BA72FA50B3E1_up.disease_51A1DD2B1A0A21F3http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/5090