| http://purl.uniprot.org/diseases/5592 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/5592 | 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. DEE76 is an autosomal recessive form that may result in death in childhood."xsd:string |
| http://purl.uniprot.org/diseases/5592 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
| http://purl.uniprot.org/diseases/5592 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/618468 |
| http://purl.uniprot.org/diseases/5592 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D013036 |
| http://purl.uniprot.org/diseases/5592 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN260164 |
| http://purl.uniprot.org/diseases/5592 | http://www.w3.org/2004/02/skos/core#prefLabel | "Developmental and epileptic encephalopathy 76"xsd:string |
| http://purl.uniprot.org/diseases/5592 | http://purl.uniprot.org/core/mnemonic | "DEE76"xsd:string |
| http://purl.uniprot.org/diseases/5592 | http://www.w3.org/2004/02/skos/core#altLabel | "EIEE76"xsd:string |
| http://purl.uniprot.org/diseases/5592 | http://www.w3.org/2004/02/skos/core#altLabel | "Epileptic encephalopathy, early infantile, 76"xsd:string |
| http://purl.uniprot.org/uniprot/O94805#SIP3E7601BAAE7BA21D | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/annotation/VAR_082124 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/annotation/VAR_082125 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/annotation/VAR_082126 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/annotation/VAR_082127 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/annotation/VAR_082128 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/annotation/VAR_082129 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/annotation/VAR_082130 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/annotation/VAR_082131 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/annotation/VAR_082132 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/annotation/VAR_082133 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/annotation/VAR_082135 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/annotation/VAR_082136 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/annotation/VAR_082137 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5592 |
| http://purl.uniprot.org/uniprot/#_8913DA1DC39253A5_up.disease_CFA57CD64BED8C01 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/5592 |