| http://purl.uniprot.org/diseases/1088 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/1088 | http://www.w3.org/2000/01/rdf-schema#comment | "A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and intellectual disability. Seizures can be provoked by tactile stimulation or extreme emotion."xsd:string |
| http://purl.uniprot.org/diseases/1088 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
| http://purl.uniprot.org/diseases/1088 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/300607 |
| http://purl.uniprot.org/diseases/1088 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D013036 |
| http://purl.uniprot.org/diseases/1088 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D013216 |
| http://purl.uniprot.org/diseases/1088 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1845102 |
| http://purl.uniprot.org/diseases/1088 | http://www.w3.org/2004/02/skos/core#prefLabel | "Developmental and epileptic encephalopathy 8"xsd:string |
| http://purl.uniprot.org/diseases/1088 | http://purl.uniprot.org/core/mnemonic | "DEE8"xsd:string |
| http://purl.uniprot.org/diseases/1088 | http://www.w3.org/2004/02/skos/core#altLabel | "EIEE8"xsd:string |
| http://purl.uniprot.org/diseases/1088 | http://www.w3.org/2004/02/skos/core#altLabel | "Epileptic encephalopathy, early infantile, 8"xsd:string |
| http://purl.uniprot.org/diseases/1088 | http://www.w3.org/2004/02/skos/core#altLabel | "Hyperekplexia with epilepsy"xsd:string |
| http://purl.uniprot.org/diseases/1088 | http://www.w3.org/2004/02/skos/core#altLabel | "Startle disease with epilepsy"xsd:string |
| http://purl.uniprot.org/uniprot/O43307#SIP33131C8D73BB01B1 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1088 |
| http://purl.uniprot.org/annotation/VAR_028752 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1088 |
| http://purl.uniprot.org/annotation/VAR_072742 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1088 |
| http://purl.uniprot.org/uniprot/#_D546311E7F188CC7_up.disease_D3489CC435593852 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/1088 |