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un grupo de trastornos familiares raros del sistema nervioso central, caracterizados por depósitos de amiloide en los vasos sanguíneos que dan lugar a accidentes cerebrovasculares hemorrágicos y no hemorrágicos, déficits neurológicos focales y declinación cognitiva progresiva que finalmente conduce a la demencia. Las características clínicas dependen del tipo de enfermedad. La mayoría de las formas (holandesa, ártica, piamontesa, de Iowa, flamenca e italiana) se deben a mutaciones puntuales en el gen APP en el cromosoma 21q21.2, que codifica la proteína precursora del amiloide beta. Esta mutación ocasiona acumulación de proteína amiloide beta en las paredes de arterias y capilares cerebrales. Solo una forma de hemorragia cerebral hereditaria con amiloidosis, el tipo islandés, se debe a una mutación en el gen CST3 en el cromosoma 20p11.2, que codifica la proteína precursora cistatina C."],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"https://data.bioontology.org/metadata/def/prefLabel":["724357007"],"http://purl.bioontology.org/ontology/SCTSPA/MODULE_ID":["450829007"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/SCTSPA/has_associated_morphology":["http://purl.bioontology.org/ontology/SCTSPA/57174000"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C1510489"],"http://purl.bioontology.org/ontology/SCTSPA/CASE_SIGNIFICANCE_ID":["900000000000448009"]},"@id":"http://purl.bioontology.org/ontology/SCTSPA/724357007","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F724357007","ontology":"https://data.bioontology.org/ontologies/SCTSPA","children":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F724357007/children","parents":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F724357007/parents","descendants":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F724357007/descendants","ancestors":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F724357007/ancestors","instances":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F724357007/instances","tree":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F724357007/tree","notes":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F724357007/notes","mappings":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F724357007/mappings","ui":"http://bioportal.bioontology.org/ontologies/SCTSPA?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F724357007","@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:0x00007f1c97e45a60 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-daf04082c829/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":[]}}