{"id":"http://purl.bioontology.org/ontology/OMIM/618495","synonym":["IMD63","INTERLEUKIN 2 RECEPTOR, BETA, DEFICIENCY OF","CD122 DEFICIENCY","IL2RB DEFICIENCY"],"notation":"618495","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C5193126"],"prefLabel":"IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY","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":["IMD63","INTERLEUKIN 2 RECEPTOR, BETA, DEFICIENCY OF","CD122 DEFICIENCY","IL2RB DEFICIENCY"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["IMD63","IL2RB"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Patients may die in childhood [MISCELLANEOUS]","Onset in utero or infancy [MISCELLANEOUS]","Caused by mutation in the interleukin 2 receptor, beta gene (IL2RB, 146710.0001) [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/MTHU001744","http://purl.bioontology.org/ontology/OMIM/MTHU002424","http://purl.bioontology.org/ontology/OMIM/MTHU065021","http://purl.bioontology.org/ontology/OMIM/MTHU034496","http://purl.bioontology.org/ontology/OMIM/MTHU065022","http://purl.bioontology.org/ontology/OMIM/MTHU065027","http://purl.bioontology.org/ontology/OMIM/MTHU065017","http://purl.bioontology.org/ontology/OMIM/MTHU028123","http://purl.bioontology.org/ontology/OMIM/MTHU056549","http://purl.bioontology.org/ontology/OMIM/MTHU065018","http://purl.bioontology.org/ontology/OMIM/MTHU000226","http://purl.bioontology.org/ontology/OMIM/MTHU065025","http://purl.bioontology.org/ontology/OMIM/MTHU000702","http://purl.bioontology.org/ontology/OMIM/MTHU065019","http://purl.bioontology.org/ontology/OMIM/MTHU065024","http://purl.bioontology.org/ontology/OMIM/MTHU043652","http://purl.bioontology.org/ontology/OMIM/MTHU038242","http://purl.bioontology.org/ontology/OMIM/MTHU036371","http://purl.bioontology.org/ontology/OMIM/MTHU065020","http://purl.bioontology.org/ontology/OMIM/MTHU065026","http://purl.bioontology.org/ontology/OMIM/MTHU000081","http://purl.bioontology.org/ontology/OMIM/MTHU065023","http://purl.bioontology.org/ontology/OMIM/MTHU033967","http://purl.bioontology.org/ontology/OMIM/MTHU065016","http://purl.bioontology.org/ontology/OMIM/MTHU002630","http://purl.bioontology.org/ontology/OMIM/MTHU003979","http://purl.bioontology.org/ontology/OMIM/MTHU032383","http://purl.bioontology.org/ontology/OMIM/MTHU026085","http://purl.bioontology.org/ontology/OMIM/MTHU007447"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["22q11.2-q13"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["618495"],"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":["C5193126"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/618495","@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%2F618495","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618495/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618495/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618495/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618495/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618495/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618495/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618495/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618495/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618495","@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:0x00007f8d4ca9cf78 /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":[]}}