{"id":"http://purl.bioontology.org/ontology/OMIM/233710","synonym":["p67-PHOX DEFICIENCY","CGD2","GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II","GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY","NEUTROPHIL CYTOSOL FACTOR 2 DEFICIENCY","NCF2 DEFICIENCY","CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II"],"notation":"233710","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C1856245"],"prefLabel":"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2","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":["p67-PHOX DEFICIENCY","CGD2","GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II","GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY","NEUTROPHIL CYTOSOL FACTOR 2 DEFICIENCY","NCF2 DEFICIENCY","CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["NCF2"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Autosomal recessive cytochrome b-positive CGD, type I (233700) [MISCELLANEOUS]","X-linked recessive cytochrome b-negative CGD (306400) [MISCELLANEOUS]","Caused by mutation in the neutrophil cytosolic factor-2 gene, p67-phox (NCF2, 608515.0001) [MOLECULAR BASIS]","Four types of CGD with basically identical clinical phenotypes [MISCELLANEOUS]","Onset usually in first decade [MISCELLANEOUS]","Autosomal recessive cytochrome b-positive CGD, type II [MISCELLANEOUS]","Autosomal recessive cytochrome b-negative CGD (233690) [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/MTHU001744","http://purl.bioontology.org/ontology/OMIM/MTHU007575","http://purl.bioontology.org/ontology/OMIM/MTHU007576","http://purl.bioontology.org/ontology/OMIM/MTHU007578","http://purl.bioontology.org/ontology/OMIM/MTHU007572","http://purl.bioontology.org/ontology/OMIM/MTHU007588","http://purl.bioontology.org/ontology/OMIM/MTHU007569","http://purl.bioontology.org/ontology/OMIM/MTHU007566","http://purl.bioontology.org/ontology/OMIM/MTHU007579","http://purl.bioontology.org/ontology/OMIM/MTHU007589","http://purl.bioontology.org/ontology/OMIM/MTHU007587","http://purl.bioontology.org/ontology/OMIM/MTHU041924","http://purl.bioontology.org/ontology/OMIM/MTHU028064","http://purl.bioontology.org/ontology/OMIM/MTHU007584","http://purl.bioontology.org/ontology/OMIM/MTHU007564","http://purl.bioontology.org/ontology/OMIM/MTHU007573","http://purl.bioontology.org/ontology/OMIM/MTHU007570","http://purl.bioontology.org/ontology/OMIM/MTHU007565","http://purl.bioontology.org/ontology/OMIM/MTHU012595","http://purl.bioontology.org/ontology/OMIM/MTHU036371","http://purl.bioontology.org/ontology/OMIM/MTHU037496","http://purl.bioontology.org/ontology/OMIM/MTHU037495","http://purl.bioontology.org/ontology/OMIM/MTHU012594","http://purl.bioontology.org/ontology/OMIM/MTHU007577","http://purl.bioontology.org/ontology/OMIM/MTHU002630","http://purl.bioontology.org/ontology/OMIM/MTHU007574","http://purl.bioontology.org/ontology/OMIM/MTHU007568","http://purl.bioontology.org/ontology/OMIM/MTHU007585","http://purl.bioontology.org/ontology/OMIM/MTHU007567"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["1q25"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["233710"],"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":["C1856245"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/233710","@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%2F233710","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F233710/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F233710/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F233710/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F233710/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F233710/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F233710/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F233710/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F233710/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F233710","@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:0x00007fa705585440 /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":[]}}