{"id":"http://purl.bioontology.org/ontology/OMIM/259775","synonym":["OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION","RNS","OSTEOSCLEROTIC BONE DYSPLASIA, LETHAL","CSOCC"],"notation":"259775","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C1850106"],"prefLabel":"RAINE 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":["OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION","RNS","OSTEOSCLEROTIC BONE DYSPLASIA, LETHAL","CSOCC"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["DMP4","FAM20C"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the family with sequence similarity 20, member C gene (FAM20C, 611061.0001) [MOLECULAR BASIS]","Some patients survive infancy [MISCELLANEOUS]"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://purl.bioontology.org/ontology/OMIM/has_manifestation":["http://purl.bioontology.org/ontology/OMIM/MTHU013044","http://purl.bioontology.org/ontology/OMIM/MTHU000511","http://purl.bioontology.org/ontology/OMIM/MTHU000231","http://purl.bioontology.org/ontology/OMIM/MTHU030488","http://purl.bioontology.org/ontology/OMIM/MTHU000258","http://purl.bioontology.org/ontology/OMIM/MTHU037830","http://purl.bioontology.org/ontology/OMIM/MTHU000191","http://purl.bioontology.org/ontology/OMIM/MTHU010336","http://purl.bioontology.org/ontology/OMIM/MTHU000263","http://purl.bioontology.org/ontology/OMIM/MTHU036340","http://purl.bioontology.org/ontology/OMIM/MTHU067772","http://purl.bioontology.org/ontology/OMIM/MTHU007357","http://purl.bioontology.org/ontology/OMIM/MTHU001623","http://purl.bioontology.org/ontology/OMIM/MTHU000576","http://purl.bioontology.org/ontology/OMIM/MTHU033304","http://purl.bioontology.org/ontology/OMIM/MTHU000185","http://purl.bioontology.org/ontology/OMIM/MTHU013660","http://purl.bioontology.org/ontology/OMIM/MTHU067775","http://purl.bioontology.org/ontology/OMIM/MTHU010040","http://purl.bioontology.org/ontology/OMIM/MTHU037448","http://purl.bioontology.org/ontology/OMIM/MTHU005786","http://purl.bioontology.org/ontology/OMIM/MTHU001061","http://purl.bioontology.org/ontology/OMIM/MTHU000514","http://purl.bioontology.org/ontology/OMIM/MTHU002499","http://purl.bioontology.org/ontology/OMIM/MTHU004127","http://purl.bioontology.org/ontology/OMIM/MTHU002592","http://purl.bioontology.org/ontology/OMIM/MTHU067778","http://purl.bioontology.org/ontology/OMIM/MTHU036357","http://purl.bioontology.org/ontology/OMIM/MTHU037858","http://purl.bioontology.org/ontology/OMIM/MTHU037833","http://purl.bioontology.org/ontology/OMIM/MTHU001802","http://purl.bioontology.org/ontology/OMIM/MTHU000259","http://purl.bioontology.org/ontology/OMIM/MTHU000579","http://purl.bioontology.org/ontology/OMIM/MTHU005631","http://purl.bioontology.org/ontology/OMIM/MTHU067773","http://purl.bioontology.org/ontology/OMIM/MTHU000073","http://purl.bioontology.org/ontology/OMIM/MTHU000088","http://purl.bioontology.org/ontology/OMIM/MTHU011660","http://purl.bioontology.org/ontology/OMIM/MTHU037442","http://purl.bioontology.org/ontology/OMIM/MTHU005522","http://purl.bioontology.org/ontology/OMIM/MTHU067780","http://purl.bioontology.org/ontology/OMIM/MTHU007616","http://purl.bioontology.org/ontology/OMIM/MTHU067776","http://purl.bioontology.org/ontology/OMIM/MTHU004166","http://purl.bioontology.org/ontology/OMIM/MTHU002016","http://purl.bioontology.org/ontology/OMIM/MTHU037841","http://purl.bioontology.org/ontology/OMIM/MTHU037846","http://purl.bioontology.org/ontology/OMIM/MTHU036439","http://purl.bioontology.org/ontology/OMIM/MTHU065073","http://purl.bioontology.org/ontology/OMIM/MTHU067779","http://purl.bioontology.org/ontology/OMIM/MTHU001611","http://purl.bioontology.org/ontology/OMIM/MTHU067771","http://purl.bioontology.org/ontology/OMIM/MTHU036375","http://purl.bioontology.org/ontology/OMIM/MTHU007970","http://purl.bioontology.org/ontology/OMIM/MTHU067774","http://purl.bioontology.org/ontology/OMIM/MTHU037832","http://purl.bioontology.org/ontology/OMIM/MTHU005230","http://purl.bioontology.org/ontology/OMIM/MTHU003776","http://purl.bioontology.org/ontology/OMIM/MTHU004047","http://purl.bioontology.org/ontology/OMIM/MTHU000145","http://purl.bioontology.org/ontology/OMIM/MTHU009656","http://purl.bioontology.org/ontology/OMIM/MTHU045314","http://purl.bioontology.org/ontology/OMIM/MTHU001853","http://purl.bioontology.org/ontology/OMIM/MTHU067777","http://purl.bioontology.org/ontology/OMIM/MTHU007654","http://purl.bioontology.org/ontology/OMIM/MTHU006874"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["7p22"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["259775"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/OMIM/has_inheritance_type":["http://purl.bioontology.org/ontology/OMIM/MTHU000016"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C1850106"],"http://purl.bioontology.org/ontology/OMIM/MOVED_FROM":["259660"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["RAINE SYNDROME"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/259775","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F259775","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F259775/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F259775/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F259775/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F259775/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F259775/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F259775/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F259775/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F259775/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F259775","@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:0x00007f8d4ca9cf78 /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":[]}}