http://purl.uniprot.org/diseases/6540 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/6540 | http://www.w3.org/2000/01/rdf-schema#comment | "A neurologic disorder characterized by variable combinations of epileptic seizure, and a varying degree of intellectual disability and developmental delay. Some patients have dysmorphic facial features or mild skeletal anomalies. In general, males are more severely affected than females, although there is evidence for incomplete penetrance in both sexes."xsd:string |
http://purl.uniprot.org/diseases/6540 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
http://purl.uniprot.org/diseases/6540 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/301091 |
http://purl.uniprot.org/diseases/6540 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D004827 |
http://purl.uniprot.org/diseases/6540 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN322486 |
http://purl.uniprot.org/diseases/6540 | http://www.w3.org/2004/02/skos/core#prefLabel | "Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features"xsd:string |
http://purl.uniprot.org/diseases/6540 | http://purl.uniprot.org/core/mnemonic | "EPILX2"xsd:string |
http://purl.uniprot.org/uniprot/P34903#SIP5D04DC9999B4D936 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6540 |
http://purl.uniprot.org/annotation/VAR_087846 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6540 |
http://purl.uniprot.org/annotation/VAR_087847 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6540 |
http://purl.uniprot.org/annotation/VAR_087848 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6540 |
http://purl.uniprot.org/annotation/VAR_087849 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6540 |
http://purl.uniprot.org/uniprot/#_895FEC7A00EBDCA5_up.disease_407D60F3826508E9 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6540 |