{"id":"http://purl.bioontology.org/ontology/OMIM/188580","synonym":["TTPP1"],"notation":"188580","semanticType":["http://purl.bioontology.org/ontology/STY/T033"],"cui":["C2749982"],"prefLabel":"THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1","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":["TTPP1"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["CACNA1S","CMYO18","TTPP1","MHS5","CCHL1A3","CACNL1A3","HOKPP1"],"http://purl.bioontology.org/ontology/OMIM/SOS":["More frequent in individuals of Asian descent [MISCELLANEOUS]","Susceptibility conferred by mutation in the voltage-dependent calcium channel, L type, alpha-1S subunit gene (CACNA1S, 114208.0005) [MOLECULAR BASIS]","Complete recovery upon treatment of hyperthyroidism [MISCELLANEOUS]","More frequent in males [MISCELLANEOUS]","Genetic heterogeneity [MISCELLANEOUS]","Attacks may present during or after sleep [MISCELLANEOUS]","Muscle weakness occurs only in the presence of hyperthyroidism [MISCELLANEOUS]","Attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise [MISCELLANEOUS]","Usually occurs in young adulthood [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/MTHU041614","http://purl.bioontology.org/ontology/OMIM/MTHU041624","http://purl.bioontology.org/ontology/OMIM/MTHU005271","http://purl.bioontology.org/ontology/OMIM/MTHU041619","http://purl.bioontology.org/ontology/OMIM/MTHU041620","http://purl.bioontology.org/ontology/OMIM/MTHU041612","http://purl.bioontology.org/ontology/OMIM/MTHU001214","http://purl.bioontology.org/ontology/OMIM/MTHU041631","http://purl.bioontology.org/ontology/OMIM/MTHU063392","http://purl.bioontology.org/ontology/OMIM/MTHU041610","http://purl.bioontology.org/ontology/OMIM/MTHU041623","http://purl.bioontology.org/ontology/OMIM/MTHU041613","http://purl.bioontology.org/ontology/OMIM/MTHU041618","http://purl.bioontology.org/ontology/OMIM/MTHU041622","http://purl.bioontology.org/ontology/OMIM/MTHU041616","http://purl.bioontology.org/ontology/OMIM/MTHU041617","http://purl.bioontology.org/ontology/OMIM/MTHU041621","http://purl.bioontology.org/ontology/OMIM/MTHU041615","http://purl.bioontology.org/ontology/OMIM/MTHU041611","http://purl.bioontology.org/ontology/OMIM/MTHU001215"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T033"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["1q32"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["188580"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["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":["C2749982"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/188580","@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%2F188580","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F188580/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F188580/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F188580/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F188580/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F188580/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F188580/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F188580/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F188580/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F188580","@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":[]}}