{"id":"http://purl.bioontology.org/ontology/OMIM/617865","synonym":["NEDMAGA"],"notation":"617865","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C4693405"],"prefLabel":"NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES","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":["NEDMAGA"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["AFND","KIAA1577","NEDMAGA","ZSWIM6"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the zinc finger swim domain-containing protein 6 gene (ZSWIM6, 615951.0002) [MOLECULAR BASIS]","Onset in infancy [MISCELLANEOUS]","Seven unrelated patients have been reported (last curated February 2018) [MISCELLANEOUS]","De novo mutation [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/MTHU001017","http://purl.bioontology.org/ontology/OMIM/MTHU001954","http://purl.bioontology.org/ontology/OMIM/MTHU060739","http://purl.bioontology.org/ontology/OMIM/MTHU004092","http://purl.bioontology.org/ontology/OMIM/MTHU036341","http://purl.bioontology.org/ontology/OMIM/MTHU001623","http://purl.bioontology.org/ontology/OMIM/MTHU000197","http://purl.bioontology.org/ontology/OMIM/MTHU000247","http://purl.bioontology.org/ontology/OMIM/MTHU060744","http://purl.bioontology.org/ontology/OMIM/MTHU008495","http://purl.bioontology.org/ontology/OMIM/MTHU001061","http://purl.bioontology.org/ontology/OMIM/MTHU033932","http://purl.bioontology.org/ontology/OMIM/MTHU060748","http://purl.bioontology.org/ontology/OMIM/MTHU000328","http://purl.bioontology.org/ontology/OMIM/MTHU066007","http://purl.bioontology.org/ontology/OMIM/MTHU002153","http://purl.bioontology.org/ontology/OMIM/MTHU060749","http://purl.bioontology.org/ontology/OMIM/MTHU070478","http://purl.bioontology.org/ontology/OMIM/MTHU054935","http://purl.bioontology.org/ontology/OMIM/MTHU001907","http://purl.bioontology.org/ontology/OMIM/MTHU002522","http://purl.bioontology.org/ontology/OMIM/MTHU060750","http://purl.bioontology.org/ontology/OMIM/MTHU060738","http://purl.bioontology.org/ontology/OMIM/MTHU051541","http://purl.bioontology.org/ontology/OMIM/MTHU002478","http://purl.bioontology.org/ontology/OMIM/MTHU000267","http://purl.bioontology.org/ontology/OMIM/MTHU000389","http://purl.bioontology.org/ontology/OMIM/MTHU015981","http://purl.bioontology.org/ontology/OMIM/MTHU057902","http://purl.bioontology.org/ontology/OMIM/MTHU002543","http://purl.bioontology.org/ontology/OMIM/MTHU002602","http://purl.bioontology.org/ontology/OMIM/MTHU000554","http://purl.bioontology.org/ontology/OMIM/MTHU001410","http://purl.bioontology.org/ontology/OMIM/MTHU012450","http://purl.bioontology.org/ontology/OMIM/MTHU060740","http://purl.bioontology.org/ontology/OMIM/MTHU002202","http://purl.bioontology.org/ontology/OMIM/MTHU000709","http://purl.bioontology.org/ontology/OMIM/MTHU000081","http://purl.bioontology.org/ontology/OMIM/MTHU070479","http://purl.bioontology.org/ontology/OMIM/MTHU001330","http://purl.bioontology.org/ontology/OMIM/MTHU070477","http://purl.bioontology.org/ontology/OMIM/MTHU015980","http://purl.bioontology.org/ontology/OMIM/MTHU060747","http://purl.bioontology.org/ontology/OMIM/MTHU022723","http://purl.bioontology.org/ontology/OMIM/MTHU005738"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["5q12.1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["617865"],"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":["C4693405"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/617865","@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%2F617865","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617865/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617865/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617865/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617865/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617865/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617865/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617865/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617865/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617865","@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:0x00007f9470058690 /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":[]}}