{"id":"http://purl.bioontology.org/ontology/CSP/1849-4349","synonym":["Gowers' chorea","cerebral pseudosclerosis","Kinnier-Wilson disease","familial hepatitis","neurohepatic degeneration","hepatocerebral degeneration","Westphal pseudosclerosis","Westphal Strumpell disease","Wilson's disease"],"notation":"1849-4349","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0019202"],"prefLabel":"hepatolenticular degeneration","definition":["rare autosomal recessive disease characterized by the deposition of copper in the brain, liver, cornea and other organs; clinical features include liver cirrhosis, liver failure, splenomegaly, tremor, bradykinesia, dysarthria, chorea, muscle rigidity, Kayser-Fleischer rings (pigmented corneal lesions), ataxia and intellectual deterioration; hepatic dysfunction may precede neurologic dysfunction by several years."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/4000-0215","http://purl.bioontology.org/ontology/CSP/1754-6264"],"parents":[{"id":"http://purl.bioontology.org/ontology/CSP/4000-0215","notation":"4000-0215","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0025534"],"prefLabel":"inborn metal metabolism disorder","definition":["genetically determined biochemical disorders in metal absorption, metal excretion, metal transport, or incorporation of metal to protein or enzyme."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/1849-0057","http://purl.bioontology.org/ontology/CSP/1851-4215"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"synonym":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/CSP/4000-0215","@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%2F4000-0215","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0215/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0215/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0215/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0215/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0215/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0215/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0215/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0215/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4000-0215","@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/1754-6264","synonym":["autoimmune gastrointestinal and liver disorder"],"notation":"1754-6264","semanticType":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T046"],"cui":["C1328836","C0023895"],"prefLabel":"liver disorder","definition":["impairment of health or a condition of abnormal functioning of the liver."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/4000-0163"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/CSP/1754-6264","@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%2F1754-6264","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1754-6264/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1754-6264/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1754-6264/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1754-6264/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1754-6264/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1754-6264/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1754-6264/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1754-6264/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1754-6264","@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/1254-7856"],"http://www.w3.org/2004/02/skos/core#altLabel":["Gowers' chorea","cerebral pseudosclerosis","Kinnier-Wilson disease","familial hepatitis","neurohepatic degeneration","hepatocerebral degeneration","Westphal pseudosclerosis","Westphal Strumpell disease","Wilson's disease"],"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":["1849-4349"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/CSP/DID":["1849-4349"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0019202"],"http://www.w3.org/2004/02/skos/core#prefLabel":["hepatolenticular degeneration"],"http://www.w3.org/2004/02/skos/core#definition":["rare autosomal recessive disease characterized by the deposition of copper in the brain, liver, cornea and other organs; clinical features include liver cirrhosis, liver failure, splenomegaly, tremor, bradykinesia, dysarthria, chorea, muscle rigidity, Kayser-Fleischer rings (pigmented corneal lesions), ataxia and intellectual deterioration; hepatic dysfunction may precede neurologic dysfunction by several years."],"http://purl.bioontology.org/ontology/CSP/RN":["http://purl.bioontology.org/ontology/CSP/4000-0215","http://purl.bioontology.org/ontology/CSP/1754-6264"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/CSP/4000-0215","http://purl.bioontology.org/ontology/CSP/1754-6264"]},"@id":"http://purl.bioontology.org/ontology/CSP/1849-4349","@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%2F1849-4349","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-4349/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-4349/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-4349/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-4349/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-4349/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-4349/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-4349/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-4349/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-4349","@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:0x00007f554ad4ae30 /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":[]}}