http://purl.uniprot.org/diseases/4289 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/4289 | 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."xsd:string |
http://purl.uniprot.org/diseases/4289 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
http://purl.uniprot.org/diseases/4289 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/616139 |
http://purl.uniprot.org/diseases/4289 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D013036 |
http://purl.uniprot.org/diseases/4289 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN224183 |
http://purl.uniprot.org/diseases/4289 | http://www.w3.org/2004/02/skos/core#prefLabel | "Developmental and epileptic encephalopathy 27"xsd:string |
http://purl.uniprot.org/diseases/4289 | http://purl.uniprot.org/core/mnemonic | "DEE27"xsd:string |
http://purl.uniprot.org/diseases/4289 | http://www.w3.org/2004/02/skos/core#altLabel | "EIEE27"xsd:string |
http://purl.uniprot.org/diseases/4289 | http://www.w3.org/2004/02/skos/core#altLabel | "Epileptic encephalopathy, early infantile, 27"xsd:string |
http://purl.uniprot.org/uniprot/Q13224#SIP76A94CB0C1995E27 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/4289 |
http://purl.uniprot.org/annotation/VAR_072663 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4289 |
http://purl.uniprot.org/annotation/VAR_072664 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4289 |
http://purl.uniprot.org/annotation/VAR_072665 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4289 |
http://purl.uniprot.org/annotation/VAR_078235 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4289 |
http://purl.uniprot.org/uniprot/#_ACA1ADD80AAE56CC_up.disease_878C23DB15716176 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/4289 |