| http://purl.uniprot.org/diseases/6474 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/6474 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of epileptic encephalopathy, a heterogeneous group of 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. DEE105 is an autosomal recessive form characterized by onset of seizures in the first weeks or months of life. Affected individuals have hypopituitarism in association with profoundly impaired development with almost no acquisition of skills, brain atrophy, thin corpus callosum, and small pituitary gland."xsd:string |
| http://purl.uniprot.org/diseases/6474 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
| http://purl.uniprot.org/diseases/6474 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/991 |
| http://purl.uniprot.org/diseases/6474 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/619983 |
| http://purl.uniprot.org/diseases/6474 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D013036 |
| http://purl.uniprot.org/diseases/6474 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN315914 |
| http://purl.uniprot.org/diseases/6474 | http://www.w3.org/2004/02/skos/core#prefLabel | "Developmental and epileptic encephalopathy 105 with hypopituitarism"xsd:string |
| http://purl.uniprot.org/diseases/6474 | http://purl.uniprot.org/core/mnemonic | "DEE105"xsd:string |
| http://purl.uniprot.org/uniprot/Q8IV36#SIPD98B7361AAEB31E6 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6474 |
| http://purl.uniprot.org/annotation/VAR_087635 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6474 |
| http://purl.uniprot.org/annotation/VAR_087636 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6474 |
| http://purl.uniprot.org/annotation/VAR_087637 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6474 |
| http://purl.uniprot.org/annotation/VAR_087638 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6474 |
| http://purl.uniprot.org/uniprot/#_2A16E2B2EF0CC89F_up.disease_4ADC6AE31582225B | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6474 |