{"id":"http://purl.bioontology.org/ontology/OMIM/618548","synonym":["DEE77","MCAHS4","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77","EIEE77","GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 19","DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 77","GPIBD19"],"notation":"618548","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C5231405"],"prefLabel":"MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4","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":["DEE77","MCAHS4","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77","EIEE77","GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 19","DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 77","GPIBD19"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["MCAHS4","PIGQ","DEE77","GPIBD19"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Three unrelated patients have been reported (last curated August 2019) [MISCELLANEOUS]","Early death may occur [MISCELLANEOUS]","Onset in infancy [MISCELLANEOUS]","Caused by mutation in the phosphatidylinositol glycan anchor biosynthesis class Q protein (PIGQ, 605754.0001) [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/MTHU021423","http://purl.bioontology.org/ontology/OMIM/MTHU066172","http://purl.bioontology.org/ontology/OMIM/MTHU001955","http://purl.bioontology.org/ontology/OMIM/MTHU007937","http://purl.bioontology.org/ontology/OMIM/MTHU000191","http://purl.bioontology.org/ontology/OMIM/MTHU002225","http://purl.bioontology.org/ontology/OMIM/MTHU016896","http://purl.bioontology.org/ontology/OMIM/MTHU002155","http://purl.bioontology.org/ontology/OMIM/MTHU040063","http://purl.bioontology.org/ontology/OMIM/MTHU007511","http://purl.bioontology.org/ontology/OMIM/MTHU066171","http://purl.bioontology.org/ontology/OMIM/MTHU000197","http://purl.bioontology.org/ontology/OMIM/MTHU000576","http://purl.bioontology.org/ontology/OMIM/MTHU004590","http://purl.bioontology.org/ontology/OMIM/MTHU036505","http://purl.bioontology.org/ontology/OMIM/MTHU052624","http://purl.bioontology.org/ontology/OMIM/MTHU024399","http://purl.bioontology.org/ontology/OMIM/MTHU004559","http://purl.bioontology.org/ontology/OMIM/MTHU066178","http://purl.bioontology.org/ontology/OMIM/MTHU066176","http://purl.bioontology.org/ontology/OMIM/MTHU004589","http://purl.bioontology.org/ontology/OMIM/MTHU037442","http://purl.bioontology.org/ontology/OMIM/MTHU000036","http://purl.bioontology.org/ontology/OMIM/MTHU000265","http://purl.bioontology.org/ontology/OMIM/MTHU002523","http://purl.bioontology.org/ontology/OMIM/MTHU000575","http://purl.bioontology.org/ontology/OMIM/MTHU036439","http://purl.bioontology.org/ontology/OMIM/MTHU000509","http://purl.bioontology.org/ontology/OMIM/MTHU028611","http://purl.bioontology.org/ontology/OMIM/MTHU036366","http://purl.bioontology.org/ontology/OMIM/MTHU036360","http://purl.bioontology.org/ontology/OMIM/MTHU005671","http://purl.bioontology.org/ontology/OMIM/MTHU003098","http://purl.bioontology.org/ontology/OMIM/MTHU042911","http://purl.bioontology.org/ontology/OMIM/MTHU001330","http://purl.bioontology.org/ontology/OMIM/MTHU004142","http://purl.bioontology.org/ontology/OMIM/MTHU035794","http://purl.bioontology.org/ontology/OMIM/MTHU070749","http://purl.bioontology.org/ontology/OMIM/MTHU005783","http://purl.bioontology.org/ontology/OMIM/MTHU011134","http://purl.bioontology.org/ontology/OMIM/MTHU002507","http://purl.bioontology.org/ontology/OMIM/MTHU001677","http://purl.bioontology.org/ontology/OMIM/MTHU070748","http://purl.bioontology.org/ontology/OMIM/MTHU005738","http://purl.bioontology.org/ontology/OMIM/MTHU006863"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["16p13.3"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["618548"],"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":["C5231405"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/618548","@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%2F618548","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618548/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618548/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618548/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618548/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618548/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618548/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618548/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618548/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618548","@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":[]}}