{"id":"http://www.orpha.net/ORDO/Orphanet_98044","prefLabel":"Central nervous system malformation","notation":"Category","prefixIRI":"ORDO:Orphanet_98044","xref":"MONDO:0020022","label":["Central nervous system malformation"],"subClassOf":["http://www.orpha.net/ORDO/Orphanet_98006","http://www.orpha.net/ORDO/Orphanet_557492","http://www.orpha.net/ORDO/Orphanet_93890"],"parents":[{"id":"http://www.orpha.net/ORDO/Orphanet_98006","prefLabel":"Rare neurologic disease","notation":"Head of classification","prefixIRI":"ORDO:Orphanet_98006","xref":"UMLS:C5680252","synonym":["Rare nervous system disease"],"label":["Rare neurologic disease"],"subClassOf":["http://www.orpha.net/ORDO/Orphanet_557492"],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"definition":[],"obsolete":false,"semanticType":[],"cui":[],"inScheme":[],"created":null,"modified":null,"@id":"http://www.orpha.net/ORDO/Orphanet_98006","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98006","ontology":"https://data.bioontology.org/ontologies/ORDO","children":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98006/children","parents":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98006/parents","descendants":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98006/descendants","ancestors":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98006/ancestors","instances":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98006/instances","tree":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98006/tree","notes":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98006/notes","mappings":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98006/mappings","ui":"http://bioportal.bioontology.org/ontologies/ORDO?p=classes&conceptid=http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98006","@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://www.orpha.net/ORDO/Orphanet_557492","prefLabel":"Group of disorders","prefixIRI":"ORDO:Orphanet_557492","definition":["A collection of clinical entities sharing a set of common features."],"label":["Group of disorders"],"subClassOf":["http://www.orpha.net/ORDO/Orphanet_C001"],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"synonym":[],"obsolete":false,"notation":null,"semanticType":[],"cui":[],"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://www.orpha.net/ORDO/Orphanet_557492","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_557492","ontology":"https://data.bioontology.org/ontologies/ORDO","children":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_557492/children","parents":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_557492/parents","descendants":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_557492/descendants","ancestors":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_557492/ancestors","instances":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_557492/instances","tree":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_557492/tree","notes":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_557492/notes","mappings":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_557492/mappings","ui":"http://bioportal.bioontology.org/ontologies/ORDO?p=classes&conceptid=http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_557492","@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://www.orpha.net/ORDO/Orphanet_93890","prefLabel":"Rare developmental defect during embryogenesis","notation":"Head of classification","prefixIRI":"ORDO:Orphanet_93890","xref":"UMLS:C5680284","synonym":["Malformation syndrome"],"label":["Rare developmental defect during embryogenesis"],"subClassOf":["http://www.orpha.net/ORDO/Orphanet_557492"],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"definition":[],"obsolete":false,"semanticType":[],"cui":[],"inScheme":[],"created":null,"modified":null,"@id":"http://www.orpha.net/ORDO/Orphanet_93890","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_93890","ontology":"https://data.bioontology.org/ontologies/ORDO","children":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_93890/children","parents":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_93890/parents","descendants":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_93890/descendants","ancestors":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_93890/ancestors","instances":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_93890/instances","tree":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_93890/tree","notes":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_93890/notes","mappings":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_93890/mappings","ui":"http://bioportal.bioontology.org/ontologies/ORDO?p=classes&conceptid=http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_93890","@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":[]}}],"synonym":[],"definition":[],"obsolete":false,"semanticType":[],"cui":[],"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"https://data.bioontology.org/metadata/def/prefLabel":["Central nervous system malformation"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://www.orpha.net/ORDO/Orphanet_C059":["https://www.orpha.net/en/disease/detail/98044"],"http://www.orpha.net/ORDO/Orphanet_C055":["https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98044"],"http://www.w3.org/2004/02/skos/core#notation":["ORPHA:98044","Category"],"https://data.bioontology.org/metadata/prefixIRI":["ORDO:Orphanet_98044"],"http://www.geneontology.org/formats/oboInOwl#hasDbXref":["MONDO:0020022","UMLS:C1839543"],"http://www.w3.org/2000/01/rdf-schema#label":["Central nervous system malformation"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://www.orpha.net/ORDO/Orphanet_98006","http://www.orpha.net/ORDO/Orphanet_557492","http://www.orpha.net/ORDO/Orphanet_93890"]},"@id":"http://www.orpha.net/ORDO/Orphanet_98044","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98044","ontology":"https://data.bioontology.org/ontologies/ORDO","children":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98044/children","parents":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98044/parents","descendants":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98044/descendants","ancestors":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98044/ancestors","instances":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98044/instances","tree":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98044/tree","notes":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98044/notes","mappings":"https://data.bioontology.org/ontologies/ORDO/classes/http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98044/mappings","ui":"http://bioportal.bioontology.org/ontologies/ORDO?p=classes&conceptid=http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_98044","@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:0x00007f9470058690 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-0083660248b7/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":[]}}