| http://purl.uniprot.org/diseases/5482 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/5482 | 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. DEE71 is an autosomal recessive form with onset at birth. Death occurs in first weeks of life."xsd:string |
| http://purl.uniprot.org/diseases/5482 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
| http://purl.uniprot.org/diseases/5482 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/618328 |
| http://purl.uniprot.org/diseases/5482 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D013036 |
| http://purl.uniprot.org/diseases/5482 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN258210 |
| http://purl.uniprot.org/diseases/5482 | http://www.w3.org/2004/02/skos/core#prefLabel | "Developmental and epileptic encephalopathy 71"xsd:string |
| http://purl.uniprot.org/diseases/5482 | http://purl.uniprot.org/core/mnemonic | "DEE71"xsd:string |
| http://purl.uniprot.org/diseases/5482 | http://www.w3.org/2004/02/skos/core#altLabel | "EIEE71"xsd:string |
| http://purl.uniprot.org/diseases/5482 | http://www.w3.org/2004/02/skos/core#altLabel | "Epileptic encephalopathy, early infantile, 71"xsd:string |
| http://purl.uniprot.org/diseases/5482 | http://www.w3.org/2004/02/skos/core#altLabel | "Glutaminase deficiency with neonatal epileptic encephalopathy"xsd:string |
| http://purl.uniprot.org/uniprot/O94925#SIP5302279F5A1F9A7F | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/5482 |
| http://purl.uniprot.org/annotation/VAR_081971 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5482 |
| http://purl.uniprot.org/annotation/VAR_081972 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/5482 |
| http://purl.uniprot.org/uniprot/#_9373528F87B3813C_up.disease_9D62E4EA979EB690 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/5482 |