http://purl.uniprot.org/diseases/5227 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/5227 | 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. DEE61 is an autosomal recessive condition characterized by onset of seizures in infancy."xsd:string |
http://purl.uniprot.org/diseases/5227 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
http://purl.uniprot.org/diseases/5227 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/617933 |
http://purl.uniprot.org/diseases/5227 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D013036 |
http://purl.uniprot.org/diseases/5227 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN244550 |
http://purl.uniprot.org/diseases/5227 | http://www.w3.org/2004/02/skos/core#prefLabel | "Developmental and epileptic encephalopathy 61"xsd:string |
http://purl.uniprot.org/diseases/5227 | http://purl.uniprot.org/core/mnemonic | "DEE61"xsd:string |
http://purl.uniprot.org/diseases/5227 | http://www.w3.org/2004/02/skos/core#altLabel | "EIEE61"xsd:string |
http://purl.uniprot.org/diseases/5227 | http://www.w3.org/2004/02/skos/core#altLabel | "Epileptic encephalopathy, early infantile, 61"xsd:string |
http://purl.uniprot.org/uniprot/Q9P0K1#SIP7499381D08818E9D | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/5227 |
http://purl.uniprot.org/annotation/VAR_080496 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5227 |
http://purl.uniprot.org/uniprot/#_45339BB06DB96E8C_up.disease_E28B226027586EBD | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/5227 |