{"id":"http://purl.bioontology.org/ontology/OMIM/176100","synonym":["PCT, TYPE II","PCT, 'FAMILIAL' TYPE","PORPHYRIA, HEPATOERYTHROPOIETIC","PORPHYRIA, HEPATOCUTANEOUS TYPE","PCT","PORPHYRIA CUTANEA TARDA, TYPE II","UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY","HEP","UROD DEFICIENCY"],"notation":"176100","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0162566","C0342861","C0268323","C0162569"],"prefLabel":"PORPHYRIA CUTANEA TARDA","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":["PCT, TYPE II","PCT, 'FAMILIAL' TYPE","PORPHYRIA, HEPATOERYTHROPOIETIC","PORPHYRIA, HEPATOCUTANEOUS TYPE","PCT","PORPHYRIA CUTANEA TARDA, TYPE II","UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY","HEP","UROD DEFICIENCY"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["UROD"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the uroporphyrinogen decarboxylase gene (UROD, 613521.0001) [MOLECULAR BASIS]","Most common form of porphyria [MISCELLANEOUS]","Susceptibility conferred by mutation in the HFE gene (HFE, 613609.0001) [MOLECULAR BASIS]","Hepatoerythropoietic porphyria (HEP, 176100.0005) is a severe infantile form due to homozygous PCT [MISCELLANEOUS]","Three types of PCT: Type I (176090) sporadic, presents in adults: Types II and III (176100) familial, presents in childhood [MISCELLANEOUS]","Sporadic or acquired PCT precipitated by alcohol, estrogens, iron, and polychlorinated cyclic hydrocarbons [MISCELLANEOUS]","More common in men than women [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/MTHU036686","http://purl.bioontology.org/ontology/OMIM/MTHU041450","http://purl.bioontology.org/ontology/OMIM/MTHU041447","http://purl.bioontology.org/ontology/OMIM/MTHU037117","http://purl.bioontology.org/ontology/OMIM/MTHU023939","http://purl.bioontology.org/ontology/OMIM/MTHU006629","http://purl.bioontology.org/ontology/OMIM/MTHU000146","http://purl.bioontology.org/ontology/OMIM/MTHU008711","http://purl.bioontology.org/ontology/OMIM/MTHU010022","http://purl.bioontology.org/ontology/OMIM/MTHU016041","http://purl.bioontology.org/ontology/OMIM/MTHU041449","http://purl.bioontology.org/ontology/OMIM/MTHU016039","http://purl.bioontology.org/ontology/OMIM/MTHU041448"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["1p34"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["176100"],"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/MTHU000018","http://purl.bioontology.org/ontology/OMIM/MTHU000016"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0162566","C0342861","C0268323","C0162569"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["PORPHYRIA CUTANEA TARDA"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/176100","@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%2F176100","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F176100/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F176100/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F176100/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F176100/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F176100/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F176100/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F176100/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F176100/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F176100","@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:0x00007f771cfb6360 /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":[]}}