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distrofia de retina ligada al cromosoma X, caracterizada por coroideremia que produce en los varones afectados nictalopia progresiva y finalmente, ceguera central. También se observan obesidad, discapacidad intelectual moderada y sordera congénita mixta (neurosensorial y de conducción). Las mujeres portadoras también exhiben cambios retinianos típicos indicativos del estado de portación de la coroideremia."],"http://purl.bioontology.org/ontology/SCTSPA/ACTIVE":["1"]},"@id":"http://purl.bioontology.org/ontology/SCTSPA/717761005","@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%2F717761005","ontology":"https://data.bioontology.org/ontologies/SCTSPA","children":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F717761005/children","parents":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F717761005/parents","descendants":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F717761005/descendants","ancestors":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F717761005/ancestors","instances":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F717761005/instances","tree":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F717761005/tree","notes":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F717761005/notes","mappings":"https://data.bioontology.org/ontologies/SCTSPA/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F717761005/mappings","ui":"http://bioportal.bioontology.org/ontologies/SCTSPA?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FSCTSPA%2F717761005","@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:0x00007fefd2c8f2c0 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-4e1a2c81a965/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":[]}}