{"id":"http://purl.bioontology.org/ontology/OMIM/267700","synonym":["FHLH","HEMOPHAGOCYTIC RETICULOSIS, FAMILIAL","FEL","FHL1","RETICULOSIS, FAMILIAL HISTIOCYTIC","HPLH","HLH1","HPLH1","ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL","FHL","HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL"],"notation":"267700","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0272199","C4551514"],"prefLabel":"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 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":["FHLH","HEMOPHAGOCYTIC RETICULOSIS, FAMILIAL","FEL","FHL1","RETICULOSIS, FAMILIAL HISTIOCYTIC","HPLH","HLH1","HPLH1","ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL","FHL","HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["HPLH1","FHL1","HLH1"],"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/MTHU005994","http://purl.bioontology.org/ontology/OMIM/MTHU009684","http://purl.bioontology.org/ontology/OMIM/MTHU001744","http://purl.bioontology.org/ontology/OMIM/MTHU009689","http://purl.bioontology.org/ontology/OMIM/MTHU000544","http://purl.bioontology.org/ontology/OMIM/MTHU000691","http://purl.bioontology.org/ontology/OMIM/MTHU000197","http://purl.bioontology.org/ontology/OMIM/MTHU000014","http://purl.bioontology.org/ontology/OMIM/MTHU000780","http://purl.bioontology.org/ontology/OMIM/MTHU037935","http://purl.bioontology.org/ontology/OMIM/MTHU001643","http://purl.bioontology.org/ontology/OMIM/MTHU000212","http://purl.bioontology.org/ontology/OMIM/MTHU007426","http://purl.bioontology.org/ontology/OMIM/MTHU009681","http://purl.bioontology.org/ontology/OMIM/MTHU009695","http://purl.bioontology.org/ontology/OMIM/MTHU001376","http://purl.bioontology.org/ontology/OMIM/MTHU009691","http://purl.bioontology.org/ontology/OMIM/MTHU009693","http://purl.bioontology.org/ontology/OMIM/MTHU002090","http://purl.bioontology.org/ontology/OMIM/MTHU002543","http://purl.bioontology.org/ontology/OMIM/MTHU009688","http://purl.bioontology.org/ontology/OMIM/MTHU009687","http://purl.bioontology.org/ontology/OMIM/MTHU002997","http://purl.bioontology.org/ontology/OMIM/MTHU000164","http://purl.bioontology.org/ontology/OMIM/MTHU036371","http://purl.bioontology.org/ontology/OMIM/MTHU009690","http://purl.bioontology.org/ontology/OMIM/MTHU009694","http://purl.bioontology.org/ontology/OMIM/MTHU002540","http://purl.bioontology.org/ontology/OMIM/MTHU009683","http://purl.bioontology.org/ontology/OMIM/MTHU000081","http://purl.bioontology.org/ontology/OMIM/MTHU009512","http://purl.bioontology.org/ontology/OMIM/MTHU002630","http://purl.bioontology.org/ontology/OMIM/MTHU036349","http://purl.bioontology.org/ontology/OMIM/MTHU009685","http://purl.bioontology.org/ontology/OMIM/MTHU036911","http://purl.bioontology.org/ontology/OMIM/MTHU009682","http://purl.bioontology.org/ontology/OMIM/MTHU009692","http://purl.bioontology.org/ontology/OMIM/MTHU009696","http://purl.bioontology.org/ontology/OMIM/MTHU009686","http://purl.bioontology.org/ontology/OMIM/MTHU036518","http://purl.bioontology.org/ontology/OMIM/MTHU009679","http://purl.bioontology.org/ontology/OMIM/MTHU000242","http://purl.bioontology.org/ontology/OMIM/MTHU002606"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["9q21.3-q22"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Mendelian phenotype or locus, molecular basis unknown."],"http://www.w3.org/2004/02/skos/core#notation":["267700"],"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":["C0272199","C4551514"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["5"],"http://www.w3.org/2004/02/skos/core#prefLabel":["HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["perc"]},"@id":"http://purl.bioontology.org/ontology/OMIM/267700","@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%2F267700","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F267700/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F267700/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F267700/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F267700/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F267700/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F267700/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F267700/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F267700/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F267700","@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:0x00007f3ce7b5a038 /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":[]}}