| http://purl.uniprot.org/diseases/5919 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/5919 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive neurodevelopmental disorder that manifests in early infancy with infantile spasms and developmental delay. Clinical features include severely impaired intellectual development, epilepsy, autism, hyperactivity and other behavioral problems, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes."xsd:string |
| http://purl.uniprot.org/diseases/5919 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
| http://purl.uniprot.org/diseases/5919 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/619031 |
| http://purl.uniprot.org/diseases/5919 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/991 |
| http://purl.uniprot.org/diseases/5919 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D065886 |
| http://purl.uniprot.org/diseases/5919 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN283365 |
| http://purl.uniprot.org/diseases/5919 | http://www.w3.org/2004/02/skos/core#prefLabel | "Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies"xsd:string |
| http://purl.uniprot.org/diseases/5919 | http://purl.uniprot.org/core/mnemonic | "IDDEBF"xsd:string |
| http://purl.uniprot.org/uniprot/Q96F25#SIPD5EF8BA58BCBFE2B | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/5919 |
| http://purl.uniprot.org/uniprot/#_C437CED0D46BDC4E_up.disease_813FF7AD3B734592 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/5919 |