{"id":"http://purl.bioontology.org/ontology/OMIM/621096","synonym":["IMD132B"],"notation":"621096","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C6012695"],"prefLabel":"IMMUNODEFICIENCY 132B","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":["IMD132B"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["CD40BP","TRAF3","CAP1","LAP1","CRAF1","IMD132A","IMD132B"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the TNF receptor-associated factor 3 gene (TRAF3, 601896.0003) [MOLECULAR BASIS]","Highly variable phenotype [MISCELLANEOUS]","Onset in childhood [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/MTHU079618","http://purl.bioontology.org/ontology/OMIM/MTHU001744","http://purl.bioontology.org/ontology/OMIM/MTHU079620","http://purl.bioontology.org/ontology/OMIM/MTHU037793","http://purl.bioontology.org/ontology/OMIM/MTHU062912","http://purl.bioontology.org/ontology/OMIM/MTHU043287","http://purl.bioontology.org/ontology/OMIM/MTHU004090","http://purl.bioontology.org/ontology/OMIM/MTHU044793","http://purl.bioontology.org/ontology/OMIM/MTHU051749","http://purl.bioontology.org/ontology/OMIM/MTHU018875","http://purl.bioontology.org/ontology/OMIM/MTHU012852","http://purl.bioontology.org/ontology/OMIM/MTHU079626","http://purl.bioontology.org/ontology/OMIM/MTHU052783","http://purl.bioontology.org/ontology/OMIM/MTHU079616","http://purl.bioontology.org/ontology/OMIM/MTHU030852","http://purl.bioontology.org/ontology/OMIM/MTHU001684","http://purl.bioontology.org/ontology/OMIM/MTHU028125","http://purl.bioontology.org/ontology/OMIM/MTHU032385","http://purl.bioontology.org/ontology/OMIM/MTHU072032","http://purl.bioontology.org/ontology/OMIM/MTHU040126","http://purl.bioontology.org/ontology/OMIM/MTHU079615","http://purl.bioontology.org/ontology/OMIM/MTHU079621","http://purl.bioontology.org/ontology/OMIM/MTHU018114","http://purl.bioontology.org/ontology/OMIM/MTHU070737","http://purl.bioontology.org/ontology/OMIM/MTHU079622","http://purl.bioontology.org/ontology/OMIM/MTHU070181","http://purl.bioontology.org/ontology/OMIM/MTHU003537","http://purl.bioontology.org/ontology/OMIM/MTHU079617","http://purl.bioontology.org/ontology/OMIM/MTHU036371","http://purl.bioontology.org/ontology/OMIM/MTHU079625","http://purl.bioontology.org/ontology/OMIM/MTHU079623","http://purl.bioontology.org/ontology/OMIM/MTHU033967","http://purl.bioontology.org/ontology/OMIM/MTHU079613","http://purl.bioontology.org/ontology/OMIM/MTHU079624","http://purl.bioontology.org/ontology/OMIM/MTHU002630","http://purl.bioontology.org/ontology/OMIM/MTHU069795","http://purl.bioontology.org/ontology/OMIM/MTHU002419","http://purl.bioontology.org/ontology/OMIM/MTHU079614","http://purl.bioontology.org/ontology/OMIM/MTHU007821","http://purl.bioontology.org/ontology/OMIM/MTHU026086","http://purl.bioontology.org/ontology/OMIM/MTHU003979","http://purl.bioontology.org/ontology/OMIM/MTHU026085","http://purl.bioontology.org/ontology/OMIM/MTHU007447","http://purl.bioontology.org/ontology/OMIM/MTHU079619","http://purl.bioontology.org/ontology/OMIM/MTHU037263","http://purl.bioontology.org/ontology/OMIM/MTHU079612"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["14q32.32"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["621096"],"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":["C6012695"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["IMMUNODEFICIENCY 132B"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/621096","@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%2F621096","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F621096/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F621096/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F621096/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F621096/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F621096/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F621096/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F621096/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F621096/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F621096","@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:0x00007f771cfb6360 /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":[]}}