http://purl.uniprot.org/diseases/5090 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/5090 | http://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/5090 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
http://purl.uniprot.org/diseases/5090 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/617665 |
http://purl.uniprot.org/diseases/5090 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D013036 |
http://purl.uniprot.org/diseases/5090 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN477042 |
http://purl.uniprot.org/diseases/5090 | http://www.w3.org/2004/02/skos/core#prefLabel | "Developmental and epileptic encephalopathy 56"xsd:string |
http://purl.uniprot.org/diseases/5090 | http://purl.uniprot.org/core/mnemonic | "DEE56"xsd:string |
http://purl.uniprot.org/diseases/5090 | http://www.w3.org/2004/02/skos/core#altLabel | "EIEE56"xsd:string |
http://purl.uniprot.org/diseases/5090 | http://www.w3.org/2004/02/skos/core#altLabel | "Epileptic encephalopathy, early infantile, 56"xsd:string |
http://purl.uniprot.org/uniprot/P61981#SIP71136B51EBF953FD | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/5090 |
http://purl.uniprot.org/annotation/VAR_080224 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5090 |
http://purl.uniprot.org/annotation/VAR_080226 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5090 |
http://purl.uniprot.org/annotation/VAR_080227 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5090 |
http://purl.uniprot.org/uniprot/#_8437BA72FA50B3E1_up.disease_51A1DD2B1A0A21F3 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/5090 |