{"id":"http://purl.bioontology.org/ontology/OMIM/607016","synonym":["MPS V, FORMERLY","MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY","MPS1-S","MUCOPOLYSACCHARIDOSIS TYPE IS","MPS5, FORMERLY"],"notation":"607016","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0026708"],"prefLabel":"SCHEIE SYNDROME","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":["MPS V, FORMERLY","MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY","MPS1-S","MUCOPOLYSACCHARIDOSIS TYPE IS","MPS5, FORMERLY"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["IDA","IDUA"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the alpha-L-iduronidase gene (IDUA, 252800.0004) [MOLECULAR BASIS]","Diagnosis typically between age 10-20 years [MISCELLANEOUS]","MPS1 types are distinguished clinically by age of onset and progression or by mutation(s) [MISCELLANEOUS]","Onset of symptoms after age 5 [MISCELLANEOUS]","Alpha-L-iduronidase activity is <1% for all forms of MPS1 [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/MTHU036368","http://purl.bioontology.org/ontology/OMIM/MTHU014364","http://purl.bioontology.org/ontology/OMIM/MTHU001469","http://purl.bioontology.org/ontology/OMIM/MTHU020569","http://purl.bioontology.org/ontology/OMIM/MTHU023165","http://purl.bioontology.org/ontology/OMIM/MTHU042813","http://purl.bioontology.org/ontology/OMIM/MTHU042827","http://purl.bioontology.org/ontology/OMIM/MTHU004639","http://purl.bioontology.org/ontology/OMIM/MTHU042823","http://purl.bioontology.org/ontology/OMIM/MTHU001467","http://purl.bioontology.org/ontology/OMIM/MTHU001946","http://purl.bioontology.org/ontology/OMIM/MTHU000514","http://purl.bioontology.org/ontology/OMIM/MTHU001542","http://purl.bioontology.org/ontology/OMIM/MTHU042825","http://purl.bioontology.org/ontology/OMIM/MTHU001441","http://purl.bioontology.org/ontology/OMIM/MTHU065382","http://purl.bioontology.org/ontology/OMIM/MTHU004117","http://purl.bioontology.org/ontology/OMIM/MTHU042826","http://purl.bioontology.org/ontology/OMIM/MTHU042814","http://purl.bioontology.org/ontology/OMIM/MTHU011164","http://purl.bioontology.org/ontology/OMIM/MTHU000335","http://purl.bioontology.org/ontology/OMIM/MTHU004856","http://purl.bioontology.org/ontology/OMIM/MTHU005783","http://purl.bioontology.org/ontology/OMIM/MTHU001746","http://purl.bioontology.org/ontology/OMIM/MTHU042810"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["4p16.3"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["607016"],"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":["C0026708"],"http://purl.bioontology.org/ontology/OMIM/MOVED_FROM":["252700"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["SCHEIE SYNDROME"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/607016","@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%2F607016","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607016/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607016/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607016/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607016/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607016/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607016/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607016/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607016/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607016","@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:0x00007f8d4ca9cf78 /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":[]}}