{"id":"http://purl.bioontology.org/ontology/OMIM/247200","synonym":["MILLER-DIEKER SYNDROME CHROMOSOME REGION","MDS","MDCR","MDLS","CHROMOSOME 17p13.3 DELETION SYNDROME"],"notation":"247200","semanticType":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T033"],"cui":["C1855481","C0265219"],"prefLabel":"MILLER-DIEKER LISSENCEPHALY 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":["MILLER-DIEKER SYNDROME CHROMOSOME REGION","MDS","MDCR","MDLS","CHROMOSOME 17p13.3 DELETION SYNDROME"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["MDS","MDLS","DEL17p13.3","MDCR","C17DELp13.3"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Contiguous gene syndrome [MISCELLANEOUS]","Death often before age 2 [MISCELLANEOUS]","A contiguous gene syndrome caused by deletion of the lissencephaly 1 gene (LIS1, 601545) and the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform gene (YWHAE, 605066) [MOLECULAR BASIS]"],"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/MTHU000511","http://purl.bioontology.org/ontology/OMIM/MTHU000231","http://purl.bioontology.org/ontology/OMIM/MTHU005362","http://purl.bioontology.org/ontology/OMIM/MTHU007915","http://purl.bioontology.org/ontology/OMIM/MTHU011857","http://purl.bioontology.org/ontology/OMIM/MTHU036336","http://purl.bioontology.org/ontology/OMIM/MTHU011855","http://purl.bioontology.org/ontology/OMIM/MTHU003424","http://purl.bioontology.org/ontology/OMIM/MTHU036340","http://purl.bioontology.org/ontology/OMIM/MTHU011851","http://purl.bioontology.org/ontology/OMIM/MTHU005336","http://purl.bioontology.org/ontology/OMIM/MTHU004637","http://purl.bioontology.org/ontology/OMIM/MTHU000576","http://purl.bioontology.org/ontology/OMIM/MTHU011843","http://purl.bioontology.org/ontology/OMIM/MTHU037675","http://purl.bioontology.org/ontology/OMIM/MTHU011852","http://purl.bioontology.org/ontology/OMIM/MTHU011849","http://purl.bioontology.org/ontology/OMIM/MTHU005299","http://purl.bioontology.org/ontology/OMIM/MTHU005345","http://purl.bioontology.org/ontology/OMIM/MTHU002599","http://purl.bioontology.org/ontology/OMIM/MTHU036357","http://purl.bioontology.org/ontology/OMIM/MTHU011845","http://purl.bioontology.org/ontology/OMIM/MTHU000560","http://purl.bioontology.org/ontology/OMIM/MTHU011853","http://purl.bioontology.org/ontology/OMIM/MTHU011859","http://purl.bioontology.org/ontology/OMIM/MTHU011848","http://purl.bioontology.org/ontology/OMIM/MTHU011847","http://purl.bioontology.org/ontology/OMIM/MTHU009012","http://purl.bioontology.org/ontology/OMIM/MTHU011858","http://purl.bioontology.org/ontology/OMIM/MTHU010488","http://purl.bioontology.org/ontology/OMIM/MTHU011850","http://purl.bioontology.org/ontology/OMIM/MTHU001305","http://purl.bioontology.org/ontology/OMIM/MTHU036439","http://purl.bioontology.org/ontology/OMIM/MTHU000133","http://purl.bioontology.org/ontology/OMIM/MTHU036366","http://purl.bioontology.org/ontology/OMIM/MTHU011844","http://purl.bioontology.org/ontology/OMIM/MTHU011860","http://purl.bioontology.org/ontology/OMIM/MTHU011846","http://purl.bioontology.org/ontology/OMIM/MTHU000066","http://purl.bioontology.org/ontology/OMIM/MTHU000081","http://purl.bioontology.org/ontology/OMIM/MTHU000264","http://purl.bioontology.org/ontology/OMIM/MTHU011861","http://purl.bioontology.org/ontology/OMIM/MTHU000189","http://purl.bioontology.org/ontology/OMIM/MTHU007674","http://purl.bioontology.org/ontology/OMIM/MTHU008119","http://purl.bioontology.org/ontology/OMIM/MTHU011854","http://purl.bioontology.org/ontology/OMIM/MTHU000242","http://purl.bioontology.org/ontology/OMIM/MTHU008662"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047","T033"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["17p13.3"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["247200"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T033"],"http://purl.bioontology.org/ontology/OMIM/has_inheritance_type":["http://purl.bioontology.org/ontology/OMIM/MTHU000018"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C1855481","C0265219"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["MILLER-DIEKER LISSENCEPHALY SYNDROME"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/247200","@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%2F247200","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F247200/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F247200/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F247200/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F247200/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F247200/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F247200/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F247200/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F247200/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F247200","@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:0x00007f771cfb6360 /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":[]}}