{"id":"http://purl.bioontology.org/ontology/OMIM/618379","synonym":["EIEE73","DEE73","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 73"],"notation":"618379","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C5193065"],"prefLabel":"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73","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":["EIEE73","DEE73","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 73"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["DEE73","RNF13"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the ring finger protein 13 gene (RNF13, 609247.0001) [MOLECULAR BASIS]","Three unrelated patients have been reported (last curated November 2020) [MISCELLANEOUS]","Onset in the first months of life [MISCELLANEOUS]","De novo mutation [MISCELLANEOUS]"],"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/MTHU004401","http://purl.bioontology.org/ontology/OMIM/MTHU040810","http://purl.bioontology.org/ontology/OMIM/MTHU004041","http://purl.bioontology.org/ontology/OMIM/MTHU000197","http://purl.bioontology.org/ontology/OMIM/MTHU004637","http://purl.bioontology.org/ontology/OMIM/MTHU044053","http://purl.bioontology.org/ontology/OMIM/MTHU055579","http://purl.bioontology.org/ontology/OMIM/MTHU063758","http://purl.bioontology.org/ontology/OMIM/MTHU064473","http://purl.bioontology.org/ontology/OMIM/MTHU064476","http://purl.bioontology.org/ontology/OMIM/MTHU070673","http://purl.bioontology.org/ontology/OMIM/MTHU000259","http://purl.bioontology.org/ontology/OMIM/MTHU006808","http://purl.bioontology.org/ontology/OMIM/MTHU001789","http://purl.bioontology.org/ontology/OMIM/MTHU004560","http://purl.bioontology.org/ontology/OMIM/MTHU004589","http://purl.bioontology.org/ontology/OMIM/MTHU000036","http://purl.bioontology.org/ontology/OMIM/MTHU002543","http://purl.bioontology.org/ontology/OMIM/MTHU002170","http://purl.bioontology.org/ontology/OMIM/MTHU064474","http://purl.bioontology.org/ontology/OMIM/MTHU064472","http://purl.bioontology.org/ontology/OMIM/MTHU046871","http://purl.bioontology.org/ontology/OMIM/MTHU028611","http://purl.bioontology.org/ontology/OMIM/MTHU071866","http://purl.bioontology.org/ontology/OMIM/MTHU036366","http://purl.bioontology.org/ontology/OMIM/MTHU042911","http://purl.bioontology.org/ontology/OMIM/MTHU000081","http://purl.bioontology.org/ontology/OMIM/MTHU026231","http://purl.bioontology.org/ontology/OMIM/MTHU047633","http://purl.bioontology.org/ontology/OMIM/MTHU064475","http://purl.bioontology.org/ontology/OMIM/MTHU000402","http://purl.bioontology.org/ontology/OMIM/MTHU011174","http://purl.bioontology.org/ontology/OMIM/MTHU006914","http://purl.bioontology.org/ontology/OMIM/MTHU000152"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["3q25.1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["618379"],"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/MTHU000018"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C5193065"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/618379","@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%2F618379","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618379/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618379/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618379/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618379/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618379/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618379/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618379/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618379/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618379","@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:0x00007f9470058690 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-0083660248b7/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":[]}}