{"id":"http://purl.bioontology.org/ontology/NDFRT/N0000003584","synonym":["Hyperkeratosis, Epidermolytic","Ichthyosiform Erythroderma, Bullous Congenital","Congenital Ichthyosiform Erythroderma, Bullous","Bullous Congenital Ichthyosiform Erythroderma","Congenital Bullous Ichthyosiform Erythroderma","Bullous Ichthyosiform Erythroderma Congenital","Epidermolytic Ichthyosis","Bullous Erythroderma Ichthyosiforme","Bullous Ichthyosiform Erythroderma","Bullous Erythroderma Ichthyosiformis Congenita of Brocq","Erythroderma Ichthyosiforme, Bullous","Epidermolytic Hyperkeratosis"],"notation":"N0000003584","semanticType":["http://purl.bioontology.org/ontology/STY/T019"],"cui":["C0079153"],"prefLabel":"Hyperkeratosis, Epidermolytic [Disease/Finding]","subClassOf":["http://purl.bioontology.org/ontology/NDFRT/N0000003367"],"parents":[{"id":"http://purl.bioontology.org/ontology/NDFRT/N0000003367","synonym":["Erythroderma, Congenital Ichthyosiform","Congenital Ichthyosiform Erythroderma","Ichthyosiform Erythroderma, Congenital"],"notation":"N0000003367","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0079583"],"prefLabel":"Ichthyosiform Erythroderma, Congenital [Disease/Finding]","subClassOf":["http://purl.bioontology.org/ontology/NDFRT/N0000001659"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"definition":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/NDFRT/N0000003367","@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%2FN0000003367","ontology":"https://data.bioontology.org/ontologies/NDFRT","children":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003367/children","parents":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003367/parents","descendants":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003367/descendants","ancestors":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003367/ancestors","instances":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003367/instances","tree":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003367/tree","notes":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003367/notes","mappings":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003367/mappings","ui":"http://bioportal.bioontology.org/ontologies/NDFRT?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003367","@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 form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder."],"http://www.w3.org/2004/02/skos/core#altLabel":["Hyperkeratosis, Epidermolytic","Ichthyosiform Erythroderma, Bullous Congenital","Congenital Ichthyosiform Erythroderma, Bullous","Bullous Congenital Ichthyosiform Erythroderma","Congenital Bullous Ichthyosiform Erythroderma","Bullous Ichthyosiform Erythroderma Congenital","Epidermolytic Ichthyosis","Bullous Erythroderma Ichthyosiforme","Bullous Ichthyosiform Erythroderma","Bullous Erythroderma Ichthyosiformis Congenita of Brocq","Erythroderma Ichthyosiforme, Bullous","Epidermolytic Hyperkeratosis"],"http://purl.bioontology.org/ontology/NDFRT/MESH_DUI":["D017488"],"http://purl.bioontology.org/ontology/NDFRT/MESH_UI":["M0026530"],"http://purl.bioontology.org/ontology/NDFRT/MESH_NAME":["Hyperkeratosis, Epidermolytic"],"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":["T019"],"http://purl.bioontology.org/ontology/NDFRT/SNOMED_CID":["254167000"],"http://purl.bioontology.org/ontology/NDFRT/may_be_treated_by":["http://purl.bioontology.org/ontology/NDFRT/N0000154088","http://purl.bioontology.org/ontology/NDFRT/N0000154089","http://purl.bioontology.org/ontology/NDFRT/N0000165361","http://purl.bioontology.org/ontology/NDFRT/N0000177053","http://purl.bioontology.org/ontology/NDFRT/N0000022873","http://purl.bioontology.org/ontology/NDFRT/N0000191351","http://purl.bioontology.org/ontology/NDFRT/N0000158110","http://purl.bioontology.org/ontology/NDFRT/N0000193490","http://purl.bioontology.org/ontology/NDFRT/N0000154082","http://purl.bioontology.org/ontology/NDFRT/N0000154085","http://purl.bioontology.org/ontology/NDFRT/N0000189300","http://purl.bioontology.org/ontology/NDFRT/N0000154086","http://purl.bioontology.org/ontology/NDFRT/N0000022872","http://purl.bioontology.org/ontology/NDFRT/N0000172047","http://purl.bioontology.org/ontology/NDFRT/N0000147495","http://purl.bioontology.org/ontology/NDFRT/N0000146756","http://purl.bioontology.org/ontology/NDFRT/N0000164479","http://purl.bioontology.org/ontology/NDFRT/N0000165125","http://purl.bioontology.org/ontology/NDFRT/N0000165360","http://purl.bioontology.org/ontology/NDFRT/N0000193426","http://purl.bioontology.org/ontology/NDFRT/N0000191664","http://purl.bioontology.org/ontology/NDFRT/N0000192467","http://purl.bioontology.org/ontology/NDFRT/N0000190444","http://purl.bioontology.org/ontology/NDFRT/N0000154083","http://purl.bioontology.org/ontology/NDFRT/N0000158106","http://purl.bioontology.org/ontology/NDFRT/N0000154090"],"http://www.w3.org/2004/02/skos/core#notation":["N0000003584"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T019"],"http://purl.bioontology.org/ontology/NDFRT/NUI":["N0000003584"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0079153"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Hyperkeratosis, Epidermolytic [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/N0000003367"]},"@id":"http://purl.bioontology.org/ontology/NDFRT/N0000003584","@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%2FN0000003584","ontology":"https://data.bioontology.org/ontologies/NDFRT","children":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003584/children","parents":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003584/parents","descendants":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003584/descendants","ancestors":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003584/ancestors","instances":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003584/instances","tree":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003584/tree","notes":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003584/notes","mappings":"https://data.bioontology.org/ontologies/NDFRT/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003584/mappings","ui":"http://bioportal.bioontology.org/ontologies/NDFRT?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FNDFRT%2FN0000003584","@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:0x00007f1ab75bb228 /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":[]}}