{"id":"http://purl.bioontology.org/ontology/OMIM/618744","synonym":["EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83","EIEE83","BARAKAT-PERENTHALER SYNDROME","DEE83"],"notation":"618744","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C5231487"],"prefLabel":"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83","label":[],"definition":[],"obsolete":false,"prefixIRI":null,"subClassOf":[],"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"parents":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"http://www.w3.org/2004/02/skos/core#altLabel":["EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83","EIEE83","BARAKAT-PERENTHALER SYNDROME","DEE83"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["UGP2","DEE83","UGPP2"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Onset in infancy [MISCELLANEOUS]","Dysmorphic features (in some patients) [MISCELLANEOUS]","Death in early childhood may occur [MISCELLANEOUS]","Caused by mutation in the uridyl diphosphate glucose pyrophosphorylase 2 gene (UGP2, 191760.0001) [MOLECULAR BASIS]"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://purl.bioontology.org/ontology/OMIM/has_manifestation":["http://purl.bioontology.org/ontology/OMIM/MTHU066907","http://purl.bioontology.org/ontology/OMIM/MTHU000300","http://purl.bioontology.org/ontology/OMIM/MTHU004041","http://purl.bioontology.org/ontology/OMIM/MTHU006120","http://purl.bioontology.org/ontology/OMIM/MTHU066909","http://purl.bioontology.org/ontology/OMIM/MTHU033288","http://purl.bioontology.org/ontology/OMIM/MTHU036340","http://purl.bioontology.org/ontology/OMIM/MTHU066902","http://purl.bioontology.org/ontology/OMIM/MTHU066903","http://purl.bioontology.org/ontology/OMIM/MTHU063758","http://purl.bioontology.org/ontology/OMIM/MTHU000136","http://purl.bioontology.org/ontology/OMIM/MTHU052656","http://purl.bioontology.org/ontology/OMIM/MTHU036357","http://purl.bioontology.org/ontology/OMIM/MTHU008076","http://purl.bioontology.org/ontology/OMIM/MTHU001907","http://purl.bioontology.org/ontology/OMIM/MTHU046383","http://purl.bioontology.org/ontology/OMIM/MTHU000073","http://purl.bioontology.org/ontology/OMIM/MTHU004589","http://purl.bioontology.org/ontology/OMIM/MTHU049055","http://purl.bioontology.org/ontology/OMIM/MTHU002761","http://purl.bioontology.org/ontology/OMIM/MTHU004166","http://purl.bioontology.org/ontology/OMIM/MTHU002016","http://purl.bioontology.org/ontology/OMIM/MTHU066906","http://purl.bioontology.org/ontology/OMIM/MTHU000090","http://purl.bioontology.org/ontology/OMIM/MTHU026142","http://purl.bioontology.org/ontology/OMIM/MTHU066905","http://purl.bioontology.org/ontology/OMIM/MTHU028611","http://purl.bioontology.org/ontology/OMIM/MTHU008529","http://purl.bioontology.org/ontology/OMIM/MTHU066908","http://purl.bioontology.org/ontology/OMIM/MTHU011089","http://purl.bioontology.org/ontology/OMIM/MTHU042911","http://purl.bioontology.org/ontology/OMIM/MTHU033967","http://purl.bioontology.org/ontology/OMIM/MTHU034227","http://purl.bioontology.org/ontology/OMIM/MTHU036450","http://purl.bioontology.org/ontology/OMIM/MTHU001330","http://purl.bioontology.org/ontology/OMIM/MTHU023711","http://purl.bioontology.org/ontology/OMIM/MTHU000140","http://purl.bioontology.org/ontology/OMIM/MTHU066784","http://purl.bioontology.org/ontology/OMIM/MTHU066904","http://purl.bioontology.org/ontology/OMIM/MTHU001746"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["2p14-p13"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["618744"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/OMIM/has_inheritance_type":["http://purl.bioontology.org/ontology/OMIM/MTHU000016"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C5231487"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/618744","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618744","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618744/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618744/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618744/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618744/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618744/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618744/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618744/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618744/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618744","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","parents":"http://www.w3.org/2000/01/rdf-schema##<Proc:0x00007fcf92237cd8 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-2d215bcb1279/lib/ontologies_linked_data/models/class.rb:67 (lambda)>","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}