{"id":"http://purl.bioontology.org/ontology/OMIM/256040","synonym":["NAKAJO-NISHIMURA SYNDROME","JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY","AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME","CANDLE","JMP SYNDROME","NKJO","PRAAS1","ALDD","PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC","CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATED TEMPERATURE SYNDROME"],"notation":"256040","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C4749059","C1850568","C4746851"],"prefLabel":"PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 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":["NAKAJO-NISHIMURA SYNDROME","JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY","AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME","CANDLE","JMP SYNDROME","NKJO","PRAAS1","ALDD","PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC","CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATED TEMPERATURE SYNDROME"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["LMP7","PRAAS1","ALDD","RING10","NKJO","JMP","PSMB8"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Some features are variable [MISCELLANEOUS]","Onset of autoinflammation in infancy or first few years of life [MISCELLANEOUS]","Caused by mutation in the proteasome subunit, beta-type, 8 gene (PSMB8, 177046.0001) [MOLECULAR BASIS]","Onset of lipodystrophy later in childhood [MISCELLANEOUS]","Onset of joint contractures later in life [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/MTHU032399","http://purl.bioontology.org/ontology/OMIM/MTHU032376","http://purl.bioontology.org/ontology/OMIM/MTHU007360","http://purl.bioontology.org/ontology/OMIM/MTHU032382","http://purl.bioontology.org/ontology/OMIM/MTHU032397","http://purl.bioontology.org/ontology/OMIM/MTHU032378","http://purl.bioontology.org/ontology/OMIM/MTHU032371","http://purl.bioontology.org/ontology/OMIM/MTHU036374","http://purl.bioontology.org/ontology/OMIM/MTHU067756","http://purl.bioontology.org/ontology/OMIM/MTHU005592","http://purl.bioontology.org/ontology/OMIM/MTHU032387","http://purl.bioontology.org/ontology/OMIM/MTHU032390","http://purl.bioontology.org/ontology/OMIM/MTHU067758","http://purl.bioontology.org/ontology/OMIM/MTHU032369","http://purl.bioontology.org/ontology/OMIM/MTHU006236","http://purl.bioontology.org/ontology/OMIM/MTHU032379","http://purl.bioontology.org/ontology/OMIM/MTHU032384","http://purl.bioontology.org/ontology/OMIM/MTHU002712","http://purl.bioontology.org/ontology/OMIM/MTHU032393","http://purl.bioontology.org/ontology/OMIM/MTHU032375","http://purl.bioontology.org/ontology/OMIM/MTHU000212","http://purl.bioontology.org/ontology/OMIM/MTHU067757","http://purl.bioontology.org/ontology/OMIM/MTHU037790","http://purl.bioontology.org/ontology/OMIM/MTHU052864","http://purl.bioontology.org/ontology/OMIM/MTHU024710","http://purl.bioontology.org/ontology/OMIM/MTHU036840","http://purl.bioontology.org/ontology/OMIM/MTHU032377","http://purl.bioontology.org/ontology/OMIM/MTHU032385","http://purl.bioontology.org/ontology/OMIM/MTHU032380","http://purl.bioontology.org/ontology/OMIM/MTHU032392","http://purl.bioontology.org/ontology/OMIM/MTHU032394","http://purl.bioontology.org/ontology/OMIM/MTHU004882","http://purl.bioontology.org/ontology/OMIM/MTHU032366","http://purl.bioontology.org/ontology/OMIM/MTHU032386","http://purl.bioontology.org/ontology/OMIM/MTHU032381","http://purl.bioontology.org/ontology/OMIM/MTHU032389","http://purl.bioontology.org/ontology/OMIM/MTHU000268","http://purl.bioontology.org/ontology/OMIM/MTHU032372","http://purl.bioontology.org/ontology/OMIM/MTHU036382","http://purl.bioontology.org/ontology/OMIM/MTHU036371","http://purl.bioontology.org/ontology/OMIM/MTHU001062","http://purl.bioontology.org/ontology/OMIM/MTHU002062","http://purl.bioontology.org/ontology/OMIM/MTHU000680","http://purl.bioontology.org/ontology/OMIM/MTHU000081","http://purl.bioontology.org/ontology/OMIM/MTHU006439","http://purl.bioontology.org/ontology/OMIM/MTHU002630","http://purl.bioontology.org/ontology/OMIM/MTHU010452","http://purl.bioontology.org/ontology/OMIM/MTHU032396","http://purl.bioontology.org/ontology/OMIM/MTHU032391","http://purl.bioontology.org/ontology/OMIM/MTHU032398","http://purl.bioontology.org/ontology/OMIM/MTHU001654","http://purl.bioontology.org/ontology/OMIM/MTHU032388","http://purl.bioontology.org/ontology/OMIM/MTHU000145","http://purl.bioontology.org/ontology/OMIM/MTHU016610","http://purl.bioontology.org/ontology/OMIM/MTHU032383","http://purl.bioontology.org/ontology/OMIM/MTHU004645","http://purl.bioontology.org/ontology/OMIM/MTHU001720","http://purl.bioontology.org/ontology/OMIM/MTHU032370","http://purl.bioontology.org/ontology/OMIM/MTHU000242","http://purl.bioontology.org/ontology/OMIM/MTHU032368","http://purl.bioontology.org/ontology/OMIM/MTHU032395"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["6p21.3"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["256040"],"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":["C4749059","C1850568","C4746851"],"http://purl.bioontology.org/ontology/OMIM/MOVED_FROM":["613732"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/256040","@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%2F256040","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F256040/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F256040/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F256040/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F256040/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F256040/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F256040/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F256040/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F256040/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F256040","@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:0x00007fcf92237cd8 /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":[]}}