{"id":"http://purl.bioontology.org/ontology/CSP/5001-0009","notation":"5001-0009","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0271097"],"prefLabel":"Usher syndrome","definition":["hereditary disorder believed to occur in two forms: (1) characterized by congenital deafness and severe retinitis pigmentosa, and (2) in which the inner ear and retina are less severely affected; most cases are transmitted as autosomal recessive trait, but some forms are X-linked."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/1114-9526","http://purl.bioontology.org/ontology/CSP/1254-7727","http://purl.bioontology.org/ontology/CSP/0724-2185"],"parents":[{"id":"http://purl.bioontology.org/ontology/CSP/1114-9526","synonym":["Alstrom syndrome","RP"],"notation":"1114-9526","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0268425","C0035334"],"prefLabel":"retinitis pigmentosa","definition":["group of inherited abnormalities in the retina; characterized by night blindness, retinal atrophy, weakening of the retinal vessels, pigment clumping, and contraction of the visual field."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/1114-9354","http://purl.bioontology.org/ontology/CSP/1254-7727"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/CSP/1114-9526","@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%2F1114-9526","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1114-9526/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1114-9526/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1114-9526/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1114-9526/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1114-9526/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1114-9526/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1114-9526/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1114-9526/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1114-9526","@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/0724-2185","synonym":["deaf mutism"],"notation":"0724-2185","semanticType":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T019"],"cui":["C4082305","C0339789"],"prefLabel":"congenital deafness","definition":["complete loss of the ability to hear from both ears since birth, regardless of causation."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/0724-1572","http://purl.bioontology.org/ontology/CSP/0977-5812"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/CSP/0724-2185","@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%2F0724-2185","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0724-2185/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0724-2185/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0724-2185/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0724-2185/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0724-2185/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0724-2185/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0724-2185/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0724-2185/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0724-2185","@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":[],"synonym":[],"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/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":["5001-0009"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/CSP/DID":["5001-0009"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0271097"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Usher syndrome"],"http://www.w3.org/2004/02/skos/core#definition":["hereditary disorder believed to occur in two forms: (1) characterized by congenital deafness and severe retinitis pigmentosa, and (2) in which the inner ear and retina are less severely affected; most cases are transmitted as autosomal recessive trait, but some forms are X-linked."],"http://purl.bioontology.org/ontology/CSP/RN":["http://purl.bioontology.org/ontology/CSP/1114-9526","http://purl.bioontology.org/ontology/CSP/1254-7727","http://purl.bioontology.org/ontology/CSP/0724-2185"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/CSP/1114-9526","http://purl.bioontology.org/ontology/CSP/1254-7727","http://purl.bioontology.org/ontology/CSP/0724-2185"]},"@id":"http://purl.bioontology.org/ontology/CSP/5001-0009","@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%2F5001-0009","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F5001-0009/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F5001-0009/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F5001-0009/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F5001-0009/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F5001-0009/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F5001-0009/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F5001-0009/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F5001-0009/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F5001-0009","@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:0x00007fb3b17ff1b8 /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":[]}}