{"id":"http://purl.bioontology.org/ontology/OMIM/308300","synonym":["BLOCH-SULZBERGER SYNDROME","INCONTINENTIA PIGMENTI, TYPE II, FORMERLY","INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE","IP","IP2, FORMERLY"],"notation":"308300","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C2930820","C0021171"],"prefLabel":"INCONTINENTIA PIGMENTI","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":["BLOCH-SULZBERGER SYNDROME","INCONTINENTIA PIGMENTI, TYPE II, FORMERLY","INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE","IP","IP2, FORMERLY"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["IP","NEMO","EDAID1","IMD33","IKBKG","FIP3","SAIDX"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the inhibitor of nuclear factor kappa B kinase, regulatory subunit gamma gene (IKBKG, 300248.0001) [MOLECULAR BASIS]"],"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/MTHU007399","http://purl.bioontology.org/ontology/OMIM/MTHU000300","http://purl.bioontology.org/ontology/OMIM/MTHU036684","http://purl.bioontology.org/ontology/OMIM/MTHU007408","http://purl.bioontology.org/ontology/OMIM/MTHU007418","http://purl.bioontology.org/ontology/OMIM/MTHU007417","http://purl.bioontology.org/ontology/OMIM/MTHU054086","http://purl.bioontology.org/ontology/OMIM/MTHU007415","http://purl.bioontology.org/ontology/OMIM/MTHU036340","http://purl.bioontology.org/ontology/OMIM/MTHU038297","http://purl.bioontology.org/ontology/OMIM/MTHU000607","http://purl.bioontology.org/ontology/OMIM/MTHU004637","http://purl.bioontology.org/ontology/OMIM/MTHU007416","http://purl.bioontology.org/ontology/OMIM/MTHU004591","http://purl.bioontology.org/ontology/OMIM/MTHU007420","http://purl.bioontology.org/ontology/OMIM/MTHU007395","http://purl.bioontology.org/ontology/OMIM/MTHU007409","http://purl.bioontology.org/ontology/OMIM/MTHU007390","http://purl.bioontology.org/ontology/OMIM/MTHU007389","http://purl.bioontology.org/ontology/OMIM/MTHU036935","http://purl.bioontology.org/ontology/OMIM/MTHU007403","http://purl.bioontology.org/ontology/OMIM/MTHU054085","http://purl.bioontology.org/ontology/OMIM/MTHU007423","http://purl.bioontology.org/ontology/OMIM/MTHU007401","http://purl.bioontology.org/ontology/OMIM/MTHU007392","http://purl.bioontology.org/ontology/OMIM/MTHU007422","http://purl.bioontology.org/ontology/OMIM/MTHU002570","http://purl.bioontology.org/ontology/OMIM/MTHU007404","http://purl.bioontology.org/ontology/OMIM/MTHU007402","http://purl.bioontology.org/ontology/OMIM/MTHU007419","http://purl.bioontology.org/ontology/OMIM/MTHU000389","http://purl.bioontology.org/ontology/OMIM/MTHU036527","http://purl.bioontology.org/ontology/OMIM/MTHU007414","http://purl.bioontology.org/ontology/OMIM/MTHU007398","http://purl.bioontology.org/ontology/OMIM/MTHU002160","http://purl.bioontology.org/ontology/OMIM/MTHU036562","http://purl.bioontology.org/ontology/OMIM/MTHU000133","http://purl.bioontology.org/ontology/OMIM/MTHU007406","http://purl.bioontology.org/ontology/OMIM/MTHU007405","http://purl.bioontology.org/ontology/OMIM/MTHU036360","http://purl.bioontology.org/ontology/OMIM/MTHU007410","http://purl.bioontology.org/ontology/OMIM/MTHU007412","http://purl.bioontology.org/ontology/OMIM/MTHU007421","http://purl.bioontology.org/ontology/OMIM/MTHU038298","http://purl.bioontology.org/ontology/OMIM/MTHU007407","http://purl.bioontology.org/ontology/OMIM/MTHU007411","http://purl.bioontology.org/ontology/OMIM/MTHU007424","http://purl.bioontology.org/ontology/OMIM/MTHU023711","http://purl.bioontology.org/ontology/OMIM/MTHU007413","http://purl.bioontology.org/ontology/OMIM/MTHU000145","http://purl.bioontology.org/ontology/OMIM/MTHU007391","http://purl.bioontology.org/ontology/OMIM/MTHU000242"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["Xq28"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["308300"],"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/MTHU003993"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C2930820","C0021171"],"http://purl.bioontology.org/ontology/OMIM/MOVED_FROM":["308310"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["INCONTINENTIA PIGMENTI"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/308300","@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%2F308300","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F308300/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F308300/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F308300/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F308300/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F308300/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F308300/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F308300/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F308300/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F308300","@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:0x00007f76cfcfc090 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-2d215bcb1279/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":[]}}