{"id":"http://purl.bioontology.org/ontology/OMIM/618729","synonym":["LIWAS"],"notation":"618729","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C5231479"],"prefLabel":"LIANG-WANG 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":["LIWAS"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["PNKD3","CADEDS","IEG16","KCNMA1","SLO","LIWAS"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Highly variable severity [MISCELLANEOUS]","Onset in infancy [MISCELLANEOUS]","Caused by mutation in the potassium channel, calcium-activated, large conductance, subfamily M, alpha member 1 gene (KCNMA1, 600150.0007) [MOLECULAR BASIS]","De novo mutation [MISCELLANEOUS]","Highly variable phenotype [MISCELLANEOUS]","Patients with type A phenotype have the most severe disorder with multisystem involvement (last curated January 2020) [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/MTHU066859","http://purl.bioontology.org/ontology/OMIM/MTHU004041","http://purl.bioontology.org/ontology/OMIM/MTHU000263","http://purl.bioontology.org/ontology/OMIM/MTHU066851","http://purl.bioontology.org/ontology/OMIM/MTHU008495","http://purl.bioontology.org/ontology/OMIM/MTHU000583","http://purl.bioontology.org/ontology/OMIM/MTHU000136","http://purl.bioontology.org/ontology/OMIM/MTHU046575","http://purl.bioontology.org/ontology/OMIM/MTHU064350","http://purl.bioontology.org/ontology/OMIM/MTHU004559","http://purl.bioontology.org/ontology/OMIM/MTHU009234","http://purl.bioontology.org/ontology/OMIM/MTHU066856","http://purl.bioontology.org/ontology/OMIM/MTHU034611","http://purl.bioontology.org/ontology/OMIM/MTHU000579","http://purl.bioontology.org/ontology/OMIM/MTHU061233","http://purl.bioontology.org/ontology/OMIM/MTHU066857","http://purl.bioontology.org/ontology/OMIM/MTHU066865","http://purl.bioontology.org/ontology/OMIM/MTHU057723","http://purl.bioontology.org/ontology/OMIM/MTHU001772","http://purl.bioontology.org/ontology/OMIM/MTHU005818","http://purl.bioontology.org/ontology/OMIM/MTHU000389","http://purl.bioontology.org/ontology/OMIM/MTHU000749","http://purl.bioontology.org/ontology/OMIM/MTHU002883","http://purl.bioontology.org/ontology/OMIM/MTHU053146","http://purl.bioontology.org/ontology/OMIM/MTHU066861","http://purl.bioontology.org/ontology/OMIM/MTHU066863","http://purl.bioontology.org/ontology/OMIM/MTHU066860","http://purl.bioontology.org/ontology/OMIM/MTHU036384","http://purl.bioontology.org/ontology/OMIM/MTHU000655","http://purl.bioontology.org/ontology/OMIM/MTHU066852","http://purl.bioontology.org/ontology/OMIM/MTHU070810","http://purl.bioontology.org/ontology/OMIM/MTHU066862","http://purl.bioontology.org/ontology/OMIM/MTHU066853","http://purl.bioontology.org/ontology/OMIM/MTHU003860","http://purl.bioontology.org/ontology/OMIM/MTHU066854","http://purl.bioontology.org/ontology/OMIM/MTHU066864","http://purl.bioontology.org/ontology/OMIM/MTHU000199","http://purl.bioontology.org/ontology/OMIM/MTHU004047","http://purl.bioontology.org/ontology/OMIM/MTHU066866","http://purl.bioontology.org/ontology/OMIM/MTHU036349","http://purl.bioontology.org/ontology/OMIM/MTHU066855","http://purl.bioontology.org/ontology/OMIM/MTHU059121","http://purl.bioontology.org/ontology/OMIM/MTHU004222","http://purl.bioontology.org/ontology/OMIM/MTHU000152","http://purl.bioontology.org/ontology/OMIM/MTHU001853","http://purl.bioontology.org/ontology/OMIM/MTHU005738","http://purl.bioontology.org/ontology/OMIM/MTHU000235"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["10q22.3"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["618729"],"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/MTHU000018"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C5231479"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["LIANG-WANG SYNDROME"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/618729","@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%2F618729","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618729/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618729/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618729/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618729/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618729/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618729/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618729/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618729/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F618729","@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":[]}}