{"id":"http://purl.bioontology.org/ontology/CSP/1849-0285","synonym":["eczema thromocytopenia immunodeficiency syndrome","Wiskott syndrome","eczema thromocytopenia diarrhea syndrome","eczema thromocytopenia syndrome","Aldrich syndrome"],"notation":"1849-0285","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0043194"],"prefLabel":"Wiskott Aldrich syndrome","definition":["rare x-linked immunodeficiency syndrome of young boys characterized by eczema, thrombocytopenic purpura and recurrent pyogenic infection; IGM levels are low and IGA and IGE levels are elevated; lymphoreticular malignancies are common."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/4000-0213","http://purl.bioontology.org/ontology/CSP/0726-8244","http://purl.bioontology.org/ontology/CSP/0944-7801","http://purl.bioontology.org/ontology/CSP/1254-7727","http://purl.bioontology.org/ontology/CSP/0446-5652"],"parents":[{"id":"http://purl.bioontology.org/ontology/CSP/4000-0213","synonym":["congenital immunodeficiency","humoral inborn immunodeficiency","inborn reticuloendothelial disorder","thymus alymphoplasia","B cell inborn immunodeficiency"],"notation":"4000-0213","semanticType":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T019"],"cui":["C0599539","C0853602","C0392207","C1328845","C1328907","C0598677"],"prefLabel":"inborn immunodeficiency","definition":["genetically or developmently determined deficiency of immune response or disorder that is characterized by deficient immune response."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/1560-5885","http://purl.bioontology.org/ontology/CSP/1849-0057"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/CSP/4000-0213","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0213","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0213/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0213/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0213/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0213/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0213/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0213/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0213/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0213/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0213","@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":[]}},{"id":"http://purl.bioontology.org/ontology/CSP/0726-8244","synonym":["Clouston's syndrome","Goltz syndrome","heritable connective tissue disorder","focal dermal hypoplasia"],"notation":"0726-8244","semanticType":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T019"],"cui":["C0037268","C0410787","C0016395","C0162361"],"prefLabel":"congenital skin disorder","definition":["structural abnormalities of the skin that exist at, and usually before, birth regardless of their causation."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/2716-5992","http://purl.bioontology.org/ontology/CSP/0723-1051"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/CSP/0726-8244","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0726-8244","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0726-8244/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0726-8244/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0726-8244/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0726-8244/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0726-8244/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0726-8244/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0726-8244/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0726-8244/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0726-8244","@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":[]}},{"id":"http://purl.bioontology.org/ontology/CSP/0944-7801","synonym":["postpericardiotomy syndrome","postgastrectomy syndrome","Eaton Lambert syndrome","myasthenic syndrome of Lambert Eaton","Alstrom syndrome","Kenny Caffey syndrome","Peutz Jeghers syndrome","Lambert Eaton myasthenic syndrome","VDWS","Multiple Lentigines","Cornelia de Lange syndrome","MLS (Multiple Lentigines/LEOPARD syndrome)","van der Woude syndrome","Saethre Chotzen syndrome","Bardet Biedel syndrome","LEOPARD syndrome","de Lange syndrome","Multiple Lentigines/LEOPARD syndrome","dumping syndrome","Rabson Mendenhall syndrome","Lambert Eaton syndrome","Brachmann de Lange syndrome","Joubert syndrome"],"notation":"0944-7801","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0268425","C0271695","C0022972","C0431399","C0175697","C0032805","C0039082","C0752166","C0175699","C0175704","C0265291","C0032763","C0031269","C0013288","C1328931","C0270972"],"prefLabel":"syndrome","definition":["heading term for a set of symptoms, usually three or more, which have a complex etiology and characterize a particular pathological state."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/0944-4756"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/CSP/0944-7801","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-7801","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-7801/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-7801/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-7801/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-7801/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-7801/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-7801/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-7801/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-7801/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-7801","@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":[]}},{"id":"http://purl.bioontology.org/ontology/CSP/1254-7727","synonym":["subacute necrotizing encephalomyelopathy","Alstrom syndrome","Clouston's syndrome","Laurence Moon Biedl syndrome","hereditary disorder","hereditary cerebellar degeneration","Multiple Lentigines","Leigh disease","familial Mediterranean fever","malformation","Bardet Biedel syndrome","corneal dystrophy","LEOPARD syndrome","Rabson Mendenhall syndrome","deformity","Joubert syndrome","familial disorder"],"notation":"1254-7727","semanticType":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T019"],"cui":["C0010036","C0268425","C0270752","C0271695","C0031069","C0023138","C0431399","C0023264","C0752166","C0175704","C0000768","C0277558","C0162361","C1328931","C0019247"],"prefLabel":"genetic disorder","definition":["general term for any disorder caused by a genetic mechanism, comprising chromosome aberrations or anomalies, mendelian or monogenic or single-gene disorders, and multifactorial disorders; note that all genetic disorders are not treed under this term; see RTs for others; in addition, many disorders not treed here or under RTs may have a genetic component."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/0944-4756"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/CSP/1254-7727","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1254-7727","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1254-7727/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1254-7727/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1254-7727/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1254-7727/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1254-7727/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1254-7727/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1254-7727/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1254-7727/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1254-7727","@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":[]}},{"id":"http://purl.bioontology.org/ontology/CSP/0446-5652","synonym":["cytopenia","Kasabach Merritt syndrome"],"notation":"0446-5652","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0040034","C5779593","C0221025"],"prefLabel":"thrombocytopenia","definition":["decrease in the number of blood platelets."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/0446-1413"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/CSP/0446-5652","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0446-5652","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0446-5652/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0446-5652/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0446-5652/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0446-5652/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0446-5652/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0446-5652/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0446-5652/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0446-5652/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0446-5652","@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":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"prefLabelXl":[],"isInActiveScheme":[],"isInActiveCollection":[],"properties":{"http://purl.bioontology.org/ontology/CSP/RO":["http://purl.bioontology.org/ontology/CSP/1254-8426"],"http://www.w3.org/2004/02/skos/core#altLabel":["eczema thromocytopenia immunodeficiency syndrome","Wiskott syndrome","eczema thromocytopenia diarrhea syndrome","eczema thromocytopenia syndrome","Aldrich syndrome"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://www.w3.org/2004/02/skos/core#notation":["1849-0285"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/CSP/DID":["1849-0285"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0043194"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Wiskott Aldrich syndrome"],"http://www.w3.org/2004/02/skos/core#definition":["rare x-linked immunodeficiency syndrome of young boys characterized by eczema, thrombocytopenic purpura and recurrent pyogenic infection; IGM levels are low and IGA and IGE levels are elevated; lymphoreticular malignancies are common."],"http://purl.bioontology.org/ontology/CSP/RN":["http://purl.bioontology.org/ontology/CSP/4000-0213","http://purl.bioontology.org/ontology/CSP/0726-8244","http://purl.bioontology.org/ontology/CSP/0944-7801","http://purl.bioontology.org/ontology/CSP/1254-7727","http://purl.bioontology.org/ontology/CSP/0446-5652"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/CSP/4000-0213","http://purl.bioontology.org/ontology/CSP/0726-8244","http://purl.bioontology.org/ontology/CSP/0944-7801","http://purl.bioontology.org/ontology/CSP/1254-7727","http://purl.bioontology.org/ontology/CSP/0446-5652"]},"@id":"http://purl.bioontology.org/ontology/CSP/1849-0285","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-0285","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-0285/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-0285/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-0285/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-0285/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-0285/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-0285/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-0285/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-0285/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-0285","@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:0x00007f5978e25580 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-867ff0f5194c/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":[]}}