{"id":"http://purl.bioontology.org/ontology/OMIM/273800","synonym":["GT","GLANZMANN THROMBASTHENIA","GT1","BDPLT2","GLYCOPROTEIN COMPLEX IIb-IIIa DEFICIENCY","BLEEDING DISORDER, PLATELET-TYPE, 2","PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY","GP IIb-IIIa COMPLEX DEFICIENCY","THROMBASTHENIA OF GLANZMANN AND NAEGELI","PLATELET FIBRINOGEN RECEPTOR DEFICIENCY"],"notation":"273800","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0040015"],"prefLabel":"GLANZMANN THROMBASTHENIA 1","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":["GT","GLANZMANN THROMBASTHENIA","GT1","BDPLT2","GLYCOPROTEIN COMPLEX IIb-IIIa DEFICIENCY","BLEEDING DISORDER, PLATELET-TYPE, 2","PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY","GP IIb-IIIa COMPLEX DEFICIENCY","THROMBASTHENIA OF GLANZMANN AND NAEGELI","PLATELET FIBRINOGEN RECEPTOR DEFICIENCY"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["ITGA2B","GP2B","BDPLT2","BDPLT16","CD41B","GT1"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Glanzmann thrombasthenia 1 and Glanzmann thrombasthenia 2 (619267) are clinically indistinguishable and have 3 clinical subtypes [MISCELLANEOUS]","Type III has normal levels of integrin, but the protein is nonfunctional [MISCELLANEOUS]","Type I has absent glycoprotein IIb/IIIa expression (<5% normal) [MISCELLANEOUS]","Platelet alloimmunization may occur following platelet transfusion [MISCELLANEOUS]","Increased frequency in French Romani, South Indian Hindus, Iraqi Jews, and Jordanian nomadic tribes [MISCELLANEOUS]","Caused by mutation in the integrin, alpha-2b gene (ITGA2B, 607759.0002) [MOLECULAR BASIS]","Estimated incidence of 1 in 1,000,000 (includes GT1 and GT2) [MISCELLANEOUS]","Type II has reduced glycoprotein IIb/IIIa expression (5-25%) [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/MTHU075706","http://purl.bioontology.org/ontology/OMIM/MTHU020410","http://purl.bioontology.org/ontology/OMIM/MTHU009110","http://purl.bioontology.org/ontology/OMIM/MTHU000448","http://purl.bioontology.org/ontology/OMIM/MTHU073517","http://purl.bioontology.org/ontology/OMIM/MTHU006821","http://purl.bioontology.org/ontology/OMIM/MTHU037166","http://purl.bioontology.org/ontology/OMIM/MTHU000449","http://purl.bioontology.org/ontology/OMIM/MTHU006474","http://purl.bioontology.org/ontology/OMIM/MTHU006824","http://purl.bioontology.org/ontology/OMIM/MTHU007302","http://purl.bioontology.org/ontology/OMIM/MTHU036919","http://purl.bioontology.org/ontology/OMIM/MTHU009112","http://purl.bioontology.org/ontology/OMIM/MTHU002611","http://purl.bioontology.org/ontology/OMIM/MTHU075707","http://purl.bioontology.org/ontology/OMIM/MTHU075708","http://purl.bioontology.org/ontology/OMIM/MTHU008418","http://purl.bioontology.org/ontology/OMIM/MTHU075709","http://purl.bioontology.org/ontology/OMIM/MTHU036916","http://purl.bioontology.org/ontology/OMIM/MTHU037097","http://purl.bioontology.org/ontology/OMIM/MTHU009114","http://purl.bioontology.org/ontology/OMIM/MTHU075705","http://purl.bioontology.org/ontology/OMIM/MTHU036809"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["17q21.32"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["273800"],"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":["C0040015"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["GLANZMANN THROMBASTHENIA 1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/273800","@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%2F273800","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F273800/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F273800/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F273800/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F273800/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F273800/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F273800/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F273800/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F273800/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F273800","@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:0x00007f164711e4a0 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-4e1a2c81a965/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":[]}}