{"id":"http://purl.bioontology.org/ontology/OMIM/MTHU000251","notation":"MTHU000251","semanticType":["http://purl.bioontology.org/ontology/STY/T033"],"cui":["C1853237"],"prefLabel":"Isolated cases","subClassOf":["http://purl.bioontology.org/ontology/OMIM/MTHU000015"],"parents":[{"id":"http://purl.bioontology.org/ontology/OMIM/MTHU000015","notation":"MTHU000015","semanticType":["http://purl.bioontology.org/ontology/STY/T169"],"cui":["C0728826"],"prefLabel":"INHERITANCE","subClassOf":["http://www.w3.org/2002/07/owl#Thing"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"synonym":[],"definition":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/OMIM/MTHU000015","@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%2FMTHU000015","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000015/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000015/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000015/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000015/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000015/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000015/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000015/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000015/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000015","@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","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":[]}}],"label":[],"synonym":[],"definition":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"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/inheritance_type_of":["http://purl.bioontology.org/ontology/OMIM/137100","http://purl.bioontology.org/ontology/OMIM/236100","http://purl.bioontology.org/ontology/OMIM/106050","http://purl.bioontology.org/ontology/OMIM/613174","http://purl.bioontology.org/ontology/OMIM/609500","http://purl.bioontology.org/ontology/OMIM/613509","http://purl.bioontology.org/ontology/OMIM/206570","http://purl.bioontology.org/ontology/OMIM/103300","http://purl.bioontology.org/ontology/OMIM/261900","http://purl.bioontology.org/ontology/OMIM/606156","http://purl.bioontology.org/ontology/OMIM/607685","http://purl.bioontology.org/ontology/OMIM/602562","http://purl.bioontology.org/ontology/OMIM/238350","http://purl.bioontology.org/ontology/OMIM/258040","http://purl.bioontology.org/ontology/OMIM/608631","http://purl.bioontology.org/ontology/OMIM/612776","http://purl.bioontology.org/ontology/OMIM/614671","http://purl.bioontology.org/ontology/OMIM/113970","http://purl.bioontology.org/ontology/OMIM/612513","http://purl.bioontology.org/ontology/OMIM/608363","http://purl.bioontology.org/ontology/OMIM/613215","http://purl.bioontology.org/ontology/OMIM/612530","http://purl.bioontology.org/ontology/OMIM/606842","http://purl.bioontology.org/ontology/OMIM/613884","http://purl.bioontology.org/ontology/OMIM/147421","http://purl.bioontology.org/ontology/OMIM/182270","http://purl.bioontology.org/ontology/OMIM/607597","http://purl.bioontology.org/ontology/OMIM/613241","http://purl.bioontology.org/ontology/OMIM/141000","http://purl.bioontology.org/ontology/OMIM/614541","http://purl.bioontology.org/ontology/OMIM/612913","http://purl.bioontology.org/ontology/OMIM/260910","http://purl.bioontology.org/ontology/OMIM/613544","http://purl.bioontology.org/ontology/OMIM/194190","http://purl.bioontology.org/ontology/OMIM/300219","http://purl.bioontology.org/ontology/OMIM/245160","http://purl.bioontology.org/ontology/OMIM/601076","http://purl.bioontology.org/ontology/OMIM/609425","http://purl.bioontology.org/ontology/OMIM/234100","http://purl.bioontology.org/ontology/OMIM/117100","http://purl.bioontology.org/ontology/OMIM/613564","http://purl.bioontology.org/ontology/OMIM/607373","http://purl.bioontology.org/ontology/OMIM/147791","http://purl.bioontology.org/ontology/OMIM/614687","http://purl.bioontology.org/ontology/OMIM/601560","http://purl.bioontology.org/ontology/OMIM/610883","http://purl.bioontology.org/ontology/OMIM/613638","http://purl.bioontology.org/ontology/OMIM/608028","http://purl.bioontology.org/ontology/OMIM/182290","http://purl.bioontology.org/ontology/OMIM/601853","http://purl.bioontology.org/ontology/OMIM/613705","http://purl.bioontology.org/ontology/OMIM/209850","http://purl.bioontology.org/ontology/OMIM/606519","http://purl.bioontology.org/ontology/OMIM/608049","http://purl.bioontology.org/ontology/OMIM/157900","http://purl.bioontology.org/ontology/OMIM/612475","http://purl.bioontology.org/ontology/OMIM/614323","http://purl.bioontology.org/ontology/OMIM/238800","http://purl.bioontology.org/ontology/OMIM/600907","http://purl.bioontology.org/ontology/OMIM/217100","http://purl.bioontology.org/ontology/OMIM/156810","http://purl.bioontology.org/ontology/OMIM/203330","http://purl.bioontology.org/ontology/OMIM/129540","http://purl.bioontology.org/ontology/OMIM/607907","http://purl.bioontology.org/ontology/OMIM/614055","http://purl.bioontology.org/ontology/OMIM/614846","http://purl.bioontology.org/ontology/OMIM/175500","http://purl.bioontology.org/ontology/OMIM/314600","http://purl.bioontology.org/ontology/OMIM/149000","http://purl.bioontology.org/ontology/OMIM/608545","http://purl.bioontology.org/ontology/OMIM/618874","http://purl.bioontology.org/ontology/OMIM/246570","http://purl.bioontology.org/ontology/OMIM/613355","http://purl.bioontology.org/ontology/OMIM/141300","http://purl.bioontology.org/ontology/OMIM/600705","http://purl.bioontology.org/ontology/OMIM/609037","http://purl.bioontology.org/ontology/OMIM/600785","http://purl.bioontology.org/ontology/OMIM/220200","http://purl.bioontology.org/ontology/OMIM/218350","http://purl.bioontology.org/ontology/OMIM/614520","http://purl.bioontology.org/ontology/OMIM/613444","http://purl.bioontology.org/ontology/OMIM/611702","http://purl.bioontology.org/ontology/OMIM/613458","http://purl.bioontology.org/ontology/OMIM/113470","http://purl.bioontology.org/ontology/OMIM/616606","http://purl.bioontology.org/ontology/OMIM/134780","http://purl.bioontology.org/ontology/OMIM/615538","http://purl.bioontology.org/ontology/OMIM/613604","http://purl.bioontology.org/ontology/OMIM/601357","http://purl.bioontology.org/ontology/OMIM/153550","http://purl.bioontology.org/ontology/OMIM/612474","http://purl.bioontology.org/ontology/OMIM/212790","http://purl.bioontology.org/ontology/OMIM/614230","http://purl.bioontology.org/ontology/OMIM/609008","http://purl.bioontology.org/ontology/OMIM/190685","http://purl.bioontology.org/ontology/OMIM/192350","http://purl.bioontology.org/ontology/OMIM/612582","http://purl.bioontology.org/ontology/OMIM/155950","http://purl.bioontology.org/ontology/OMIM/164180","http://purl.bioontology.org/ontology/OMIM/154230","http://purl.bioontology.org/ontology/OMIM/610910","http://purl.bioontology.org/ontology/OMIM/613913","http://purl.bioontology.org/ontology/OMIM/614688","http://purl.bioontology.org/ontology/OMIM/188025","http://purl.bioontology.org/ontology/OMIM/604827","http://purl.bioontology.org/ontology/OMIM/608638","http://purl.bioontology.org/ontology/OMIM/267450","http://purl.bioontology.org/ontology/OMIM/164750","http://purl.bioontology.org/ontology/OMIM/159400","http://purl.bioontology.org/ontology/OMIM/606764","http://purl.bioontology.org/ontology/OMIM/184850","http://purl.bioontology.org/ontology/OMIM/169170","http://purl.bioontology.org/ontology/OMIM/612626","http://purl.bioontology.org/ontology/OMIM/184400","http://purl.bioontology.org/ontology/OMIM/609616","http://purl.bioontology.org/ontology/OMIM/607872","http://purl.bioontology.org/ontology/OMIM/607665","http://purl.bioontology.org/ontology/OMIM/602440","http://purl.bioontology.org/ontology/OMIM/613457","http://purl.bioontology.org/ontology/OMIM/615107"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T033"],"http://www.w3.org/2004/02/skos/core#notation":["MTHU000251"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T033"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C1853237"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Isolated cases"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/OMIM/MTHU000015"]},"@id":"http://purl.bioontology.org/ontology/OMIM/MTHU000251","@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%2FMTHU000251","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000251/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000251/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000251/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000251/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000251/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000251/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000251/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000251/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU000251","@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:0x00007fbd5ffec6e8 /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":[]}}