{"id":"http://purl.bioontology.org/ontology/NDFRT/N0000001558","synonym":["Progressive Chorea, Chronic Hereditary (Huntington)","Huntington Chorea","Huntington's Disease","Huntington's Chorea","Huntington Disease","Chorea, Chronic Progressive Hereditary (Huntington)","Huntington Chronic Progressive Hereditary Chorea","Chronic Progressive Hereditary Chorea (Huntington)","Progressive Chorea, Hereditary, Chronic (Huntington)"],"notation":"N0000001558","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0020179"],"prefLabel":"Huntington Disease [Disease/Finding]","subClassOf":["http://purl.bioontology.org/ontology/NDFRT/N0000000536"],"parents":[{"id":"http://purl.bioontology.org/ontology/NDFRT/N0000000536","synonym":["Basal Ganglia Disorders","Basal Ganglia Diseases"],"notation":"N0000000536","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0004782"],"prefLabel":"Basal Ganglia Diseases [Disease/Finding]","subClassOf":["http://purl.bioontology.org/ontology/NDFRT/N0000000605"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"definition":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/NDFRT/N0000000536","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000000536","ontology":"https://data.bioontology.org/ontologies/NDFRT","children":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000000536/children","parents":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000000536/parents","descendants":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000000536/descendants","ancestors":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000000536/ancestors","instances":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000000536/instances","tree":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000000536/tree","notes":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000000536/notes","mappings":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000000536/mappings","ui":"http://bioportal.bioontology.org/ontologies/NDFRT?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000000536","@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":[],"definition":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"http://purl.bioontology.org/ontology/NDFRT/MESH_DEFINITION":["A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)"],"http://www.w3.org/2004/02/skos/core#altLabel":["Progressive Chorea, Chronic Hereditary (Huntington)","Huntington Chorea","Huntington's Disease","Huntington's Chorea","Huntington Disease","Chorea, Chronic Progressive Hereditary (Huntington)","Huntington Chronic Progressive Hereditary Chorea","Chronic Progressive Hereditary Chorea (Huntington)","Progressive Chorea, Hereditary, Chronic (Huntington)"],"http://purl.bioontology.org/ontology/NDFRT/MESH_DUI":["D006816"],"http://purl.bioontology.org/ontology/NDFRT/MESH_UI":["M0010660"],"http://purl.bioontology.org/ontology/NDFRT/MESH_NAME":["Huntington 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://purl.bioontology.org/ontology/NDFRT/SNOMED_CID":["58756001"],"http://purl.bioontology.org/ontology/NDFRT/may_be_treated_by":["http://purl.bioontology.org/ontology/NDFRT/N0000164994","http://purl.bioontology.org/ontology/NDFRT/N0000186716","http://purl.bioontology.org/ontology/NDFRT/N0000146801","http://purl.bioontology.org/ontology/NDFRT/N0000186715","http://purl.bioontology.org/ontology/NDFRT/N0000152645","http://purl.bioontology.org/ontology/NDFRT/N0000148739","http://purl.bioontology.org/ontology/NDFRT/N0000163667","http://purl.bioontology.org/ontology/NDFRT/N0000163767","http://purl.bioontology.org/ontology/NDFRT/N0000152648","http://purl.bioontology.org/ontology/NDFRT/N0000154578","http://purl.bioontology.org/ontology/NDFRT/N0000154581","http://purl.bioontology.org/ontology/NDFRT/N0000177920","http://purl.bioontology.org/ontology/NDFRT/N0000178242","http://purl.bioontology.org/ontology/NDFRT/N0000162670","http://purl.bioontology.org/ontology/NDFRT/N0000152643","http://purl.bioontology.org/ontology/NDFRT/N0000161687","http://purl.bioontology.org/ontology/NDFRT/N0000146289","http://purl.bioontology.org/ontology/NDFRT/N0000186714","http://purl.bioontology.org/ontology/NDFRT/N0000191690","http://purl.bioontology.org/ontology/NDFRT/N0000178243","http://purl.bioontology.org/ontology/NDFRT/N0000146719","http://purl.bioontology.org/ontology/NDFRT/N0000188187","http://purl.bioontology.org/ontology/NDFRT/N0000152644","http://purl.bioontology.org/ontology/NDFRT/N0000153013","http://purl.bioontology.org/ontology/NDFRT/N0000154580","http://purl.bioontology.org/ontology/NDFRT/N0000154576"],"http://www.w3.org/2004/02/skos/core#notation":["N0000001558"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/NDFRT/NUI":["N0000001558"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0020179"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Huntington Disease [Disease/Finding]"],"http://purl.bioontology.org/ontology/NDFRT/NDFRT_KIND":["DISEASE_KIND"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/NDFRT/N0000000536"]},"@id":"http://purl.bioontology.org/ontology/NDFRT/N0000001558","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000001558","ontology":"https://data.bioontology.org/ontologies/NDFRT","children":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000001558/children","parents":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000001558/parents","descendants":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000001558/descendants","ancestors":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000001558/ancestors","instances":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000001558/instances","tree":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000001558/tree","notes":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000001558/notes","mappings":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000001558/mappings","ui":"http://bioportal.bioontology.org/ontologies/NDFRT?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000001558","@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:0x00007f16a9338378 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-24935f63fd31/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":[]}}