{"id":"http://purl.bioontology.org/ontology/OMIM/611890","synonym":["LAAHD, FORMERLY","LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE, FORMERLY","CAAHD"],"notation":"611890","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C5193016"],"prefLabel":"CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE","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":["LAAHD, FORMERLY","LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE, FORMERLY","CAAHD"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["LCCS","GLE1L","GLE1","LCCS1","CAAHD"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Highly variable severity [MISCELLANEOUS]","Death in infancy or early childhood may occur [MISCELLANEOUS]","Onset in utero [MISCELLANEOUS]","Caused by mutation in the GLE1, RNA export mediator gene (GLE1, 603371.0002) [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/MTHU000379","http://purl.bioontology.org/ontology/OMIM/MTHU036427","http://purl.bioontology.org/ontology/OMIM/MTHU036340","http://purl.bioontology.org/ontology/OMIM/MTHU049614","http://purl.bioontology.org/ontology/OMIM/MTHU010738","http://purl.bioontology.org/ontology/OMIM/MTHU001623","http://purl.bioontology.org/ontology/OMIM/MTHU000197","http://purl.bioontology.org/ontology/OMIM/MTHU000576","http://purl.bioontology.org/ontology/OMIM/MTHU033304","http://purl.bioontology.org/ontology/OMIM/MTHU021665","http://purl.bioontology.org/ontology/OMIM/MTHU063760","http://purl.bioontology.org/ontology/OMIM/MTHU003217","http://purl.bioontology.org/ontology/OMIM/MTHU063758","http://purl.bioontology.org/ontology/OMIM/MTHU004214","http://purl.bioontology.org/ontology/OMIM/MTHU000317","http://purl.bioontology.org/ontology/OMIM/MTHU063754","http://purl.bioontology.org/ontology/OMIM/MTHU063757","http://purl.bioontology.org/ontology/OMIM/MTHU000512","http://purl.bioontology.org/ontology/OMIM/MTHU036357","http://purl.bioontology.org/ontology/OMIM/MTHU004124","http://purl.bioontology.org/ontology/OMIM/MTHU000579","http://purl.bioontology.org/ontology/OMIM/MTHU001172","http://purl.bioontology.org/ontology/OMIM/MTHU000681","http://purl.bioontology.org/ontology/OMIM/MTHU063756","http://purl.bioontology.org/ontology/OMIM/MTHU000036","http://purl.bioontology.org/ontology/OMIM/MTHU063753","http://purl.bioontology.org/ontology/OMIM/MTHU063759","http://purl.bioontology.org/ontology/OMIM/MTHU036384","http://purl.bioontology.org/ontology/OMIM/MTHU000655","http://purl.bioontology.org/ontology/OMIM/MTHU000509","http://purl.bioontology.org/ontology/OMIM/MTHU038242","http://purl.bioontology.org/ontology/OMIM/MTHU036949","http://purl.bioontology.org/ontology/OMIM/MTHU001721","http://purl.bioontology.org/ontology/OMIM/MTHU005748","http://purl.bioontology.org/ontology/OMIM/MTHU000066","http://purl.bioontology.org/ontology/OMIM/MTHU003214","http://purl.bioontology.org/ontology/OMIM/MTHU000199","http://purl.bioontology.org/ontology/OMIM/MTHU068872","http://purl.bioontology.org/ontology/OMIM/MTHU000669","http://purl.bioontology.org/ontology/OMIM/MTHU007095","http://purl.bioontology.org/ontology/OMIM/MTHU026492","http://purl.bioontology.org/ontology/OMIM/MTHU011174","http://purl.bioontology.org/ontology/OMIM/MTHU003516","http://purl.bioontology.org/ontology/OMIM/MTHU005932","http://purl.bioontology.org/ontology/OMIM/MTHU040091","http://purl.bioontology.org/ontology/OMIM/MTHU000242","http://purl.bioontology.org/ontology/OMIM/MTHU031268","http://purl.bioontology.org/ontology/OMIM/MTHU056249"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["9q34"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["611890"],"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":["C5193016"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/611890","@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%2F611890","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F611890/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F611890/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F611890/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F611890/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F611890/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F611890/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F611890/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F611890/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F611890","@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:0x00007fa705585440 /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":[]}}