http://purl.uniprot.org/diseases/4845 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/4845 | 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/4845 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
http://purl.uniprot.org/diseases/4845 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/617162 |
http://purl.uniprot.org/diseases/4845 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D013036 |
http://purl.uniprot.org/diseases/4845 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN238793 |
http://purl.uniprot.org/diseases/4845 | http://www.w3.org/2004/02/skos/core#prefLabel | "Developmental and epileptic encephalopathy 46"xsd:string |
http://purl.uniprot.org/diseases/4845 | http://purl.uniprot.org/core/mnemonic | "DEE46"xsd:string |
http://purl.uniprot.org/diseases/4845 | http://www.w3.org/2004/02/skos/core#altLabel | "EIEE46"xsd:string |
http://purl.uniprot.org/diseases/4845 | http://www.w3.org/2004/02/skos/core#altLabel | "Epileptic encephalopathy, early infantile, 46"xsd:string |
http://purl.uniprot.org/uniprot/O15399#SIPE994647EB25329E0 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/4845 |
http://purl.uniprot.org/annotation/VAR_077103 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4845 |
http://purl.uniprot.org/uniprot/#_E2EEF8BB9B9647B0_up.disease_94D3B71712E26209 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/4845 |