{"id":"http://purl.bioontology.org/ontology/MESH/C537364","synonym":["Ichthyosis alopecia eclabion ectropion mental retardation","Ichthyosis With Alopecia, Eclabion, Ectropion, And Mental Retardation"],"notation":"C537364","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C1855788"],"prefLabel":"Jagell Holmgren Hofer syndrome","label":[],"definition":[],"obsolete":false,"prefixIRI":null,"subClassOf":[],"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"parents":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"http://www.w3.org/2004/02/skos/core#altLabel":["Ichthyosis alopecia eclabion ectropion mental retardation","Ichthyosis With Alopecia, Eclabion, Ectropion, And Mental Retardation"],"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://purl.bioontology.org/ontology/MESH/has_mapping_qualifier":["http://purl.bioontology.org/ontology/MESH/Q000002"],"http://purl.bioontology.org/ontology/MESH/HM":["D000505","D004483","D007057","D008607","D009056","D008046/Q000002"],"http://purl.bioontology.org/ontology/MESH/SC":["3"],"http://purl.bioontology.org/ontology/MESH/TERMUI":["T806843","T742342","T742341"],"http://purl.bioontology.org/ontology/MESH/TH":["OMIM (2013)","ORD (2010)"],"http://purl.bioontology.org/ontology/MESH/MMR":["20131106"],"http://www.w3.org/2004/02/skos/core#notation":["C537364"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C1855788"],"http://purl.bioontology.org/ontology/MESH/FR":["0"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Jagell Holmgren Hofer syndrome"],"http://purl.bioontology.org/ontology/MESH/DSC":["20100825"],"http://purl.bioontology.org/ontology/MESH/RN":["0"],"http://purl.bioontology.org/ontology/MESH/mapped_to":["http://purl.bioontology.org/ontology/MESH/D004483","http://purl.bioontology.org/ontology/MESH/D009056","http://purl.bioontology.org/ontology/MESH/D007057","http://purl.bioontology.org/ontology/MESH/D008607","http://purl.bioontology.org/ontology/MESH/D008046","http://purl.bioontology.org/ontology/MESH/D000505"],"http://purl.bioontology.org/ontology/MESH/MDA":["20100825"]},"@id":"http://purl.bioontology.org/ontology/MESH/C537364","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FC537364","ontology":"https://data.bioontology.org/ontologies/MESH","children":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FC537364/children","parents":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FC537364/parents","descendants":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FC537364/descendants","ancestors":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FC537364/ancestors","instances":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FC537364/instances","tree":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FC537364/tree","notes":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FC537364/notes","mappings":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FC537364/mappings","ui":"http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FC537364","@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:0x00007f76cfcfc090 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-2d215bcb1279/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":[]}}