{"id":"http://purl.bioontology.org/ontology/OMIM/300912","synonym":["MENTAL RETARDATION, X-LINKED 98","XLID98","MRX98"],"notation":"300912","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C3806730"],"prefLabel":"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98","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":["MENTAL RETARDATION, X-LINKED 98","XLID98","MRX98"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["XLID98","NEXMIF","KIAA2022"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the neurite extension and migration factor gene (NEXMIF, 300524.0001) [MOLECULAR BASIS]","Onset of seizures in first months or years of life [MISCELLANEOUS]","Some carrier females are unaffected [MISCELLANEOUS]","Onset at birth [MISCELLANEOUS]","Males are more severely affected than females [MISCELLANEOUS]","De novo mutation (in affected females) [MISCELLANEOUS]","Variable phenotype [MISCELLANEOUS]","Incomplete penetrance [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/MTHU004401","http://purl.bioontology.org/ontology/OMIM/MTHU042328","http://purl.bioontology.org/ontology/OMIM/MTHU000300","http://purl.bioontology.org/ontology/OMIM/MTHU002113","http://purl.bioontology.org/ontology/OMIM/MTHU011036","http://purl.bioontology.org/ontology/OMIM/MTHU006120","http://purl.bioontology.org/ontology/OMIM/MTHU001452","http://purl.bioontology.org/ontology/OMIM/MTHU036341","http://purl.bioontology.org/ontology/OMIM/MTHU006232","http://purl.bioontology.org/ontology/OMIM/MTHU002002","http://purl.bioontology.org/ontology/OMIM/MTHU008495","http://purl.bioontology.org/ontology/OMIM/MTHU000302","http://purl.bioontology.org/ontology/OMIM/MTHU042331","http://purl.bioontology.org/ontology/OMIM/MTHU043102","http://purl.bioontology.org/ontology/OMIM/MTHU024399","http://purl.bioontology.org/ontology/OMIM/MTHU007254","http://purl.bioontology.org/ontology/OMIM/MTHU009234","http://purl.bioontology.org/ontology/OMIM/MTHU002522","http://purl.bioontology.org/ontology/OMIM/MTHU002980","http://purl.bioontology.org/ontology/OMIM/MTHU000389","http://purl.bioontology.org/ontology/OMIM/MTHU036392","http://purl.bioontology.org/ontology/OMIM/MTHU002883","http://purl.bioontology.org/ontology/OMIM/MTHU002108","http://purl.bioontology.org/ontology/OMIM/MTHU019570","http://purl.bioontology.org/ontology/OMIM/MTHU002602","http://purl.bioontology.org/ontology/OMIM/MTHU007279","http://purl.bioontology.org/ontology/OMIM/MTHU005669","http://purl.bioontology.org/ontology/OMIM/MTHU000554","http://purl.bioontology.org/ontology/OMIM/MTHU000394","http://purl.bioontology.org/ontology/OMIM/MTHU000133","http://purl.bioontology.org/ontology/OMIM/MTHU005627","http://purl.bioontology.org/ontology/OMIM/MTHU058560","http://purl.bioontology.org/ontology/OMIM/MTHU001721","http://purl.bioontology.org/ontology/OMIM/MTHU000081","http://purl.bioontology.org/ontology/OMIM/MTHU042330","http://purl.bioontology.org/ontology/OMIM/MTHU036349","http://purl.bioontology.org/ontology/OMIM/MTHU004222","http://purl.bioontology.org/ontology/OMIM/MTHU042329","http://purl.bioontology.org/ontology/OMIM/MTHU001720"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["Xq13.2"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["300912"],"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/MTHU003993"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C3806730"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/300912","@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%2F300912","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F300912/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F300912/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F300912/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F300912/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F300912/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F300912/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F300912/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F300912/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F300912","@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:0x00007f453dc33af0 /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":[]}}