http://purl.uniprot.org/diseases/6430 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/6430 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of epileptic encephalopathy, a heterogeneous group of 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. DEE102 is an autosomal recessive form characterized by onset of variable types of seizures in infancy."xsd:string |
http://purl.uniprot.org/diseases/6430 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
http://purl.uniprot.org/diseases/6430 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/991 |
http://purl.uniprot.org/diseases/6430 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/619881 |
http://purl.uniprot.org/diseases/6430 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D013036 |
http://purl.uniprot.org/diseases/6430 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN312435 |
http://purl.uniprot.org/diseases/6430 | http://www.w3.org/2004/02/skos/core#prefLabel | "Developmental and epileptic encephalopathy 102"xsd:string |
http://purl.uniprot.org/diseases/6430 | http://purl.uniprot.org/core/mnemonic | "DEE102"xsd:string |
http://purl.uniprot.org/uniprot/Q99624#SIP34A8D7237E43F9E4 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6430 |
http://purl.uniprot.org/annotation/VAR_087292 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6430 |
http://purl.uniprot.org/annotation/VAR_087293 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6430 |
http://purl.uniprot.org/annotation/VAR_087294 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6430 |
http://purl.uniprot.org/annotation/VAR_087295 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6430 |
http://purl.uniprot.org/annotation/VAR_087296 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6430 |
http://purl.uniprot.org/annotation/VAR_087297 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6430 |
http://purl.uniprot.org/uniprot/#_484547E3EF7842C9_up.disease_B80B7CD523C8F7C9 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6430 |