| http://purl.uniprot.org/diseases/5653 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/5653 | 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. DEE79 is an autosomal dominant form characterized by onset of refractory seizures in the first months of life. Brain imaging may show hypomyelination, cerebral atrophy and thinning of the corpus callosum."xsd:string |
| http://purl.uniprot.org/diseases/5653 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
| http://purl.uniprot.org/diseases/5653 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/618559 |
| http://purl.uniprot.org/diseases/5653 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D013036 |
| http://purl.uniprot.org/diseases/5653 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN262226 |
| http://purl.uniprot.org/diseases/5653 | http://www.w3.org/2004/02/skos/core#prefLabel | "Developmental and epileptic encephalopathy 79"xsd:string |
| http://purl.uniprot.org/diseases/5653 | http://purl.uniprot.org/core/mnemonic | "DEE79"xsd:string |
| http://purl.uniprot.org/diseases/5653 | http://www.w3.org/2004/02/skos/core#altLabel | "EIEE79"xsd:string |
| http://purl.uniprot.org/diseases/5653 | http://www.w3.org/2004/02/skos/core#altLabel | "Epileptic encephalopathy, early infantile, 79"xsd:string |
| http://purl.uniprot.org/uniprot/P31644#SIPFA4D7B97CD539D9D | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/5653 |
| http://purl.uniprot.org/annotation/VAR_083201 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5653 |
| http://purl.uniprot.org/annotation/VAR_083202 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5653 |
| http://purl.uniprot.org/annotation/VAR_083203 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5653 |
| http://purl.uniprot.org/uniprot/#_DC1F53A3379A76EF_up.disease_2900D10EB118E5CD | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/5653 |