{"id":"http://purl.bioontology.org/ontology/OMIM/617481","synonym":["NMIHBA"],"notation":"617481","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C4479566"],"prefLabel":"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES","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":["NMIHBA"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["NMIHBA","DRES17","PRUNE1"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Found in families of Swampy Cree descent [MISCELLANEOUS]","Onset at birth [MISCELLANEOUS]","Caused by mutation in the PRUNE exopolyphosphatase 1 gene (PRUNE1, 617413.0001) [MOLECULAR BASIS]","Death in infancy or childhood may occur [MISCELLANEOUS]","Progressive disorder [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/MTHU005726","http://purl.bioontology.org/ontology/OMIM/MTHU004041","http://purl.bioontology.org/ontology/OMIM/MTHU040063","http://purl.bioontology.org/ontology/OMIM/MTHU001452","http://purl.bioontology.org/ontology/OMIM/MTHU000197","http://purl.bioontology.org/ontology/OMIM/MTHU052273","http://purl.bioontology.org/ontology/OMIM/MTHU002029","http://purl.bioontology.org/ontology/OMIM/MTHU003217","http://purl.bioontology.org/ontology/OMIM/MTHU000136","http://purl.bioontology.org/ontology/OMIM/MTHU001707","http://purl.bioontology.org/ontology/OMIM/MTHU001627","http://purl.bioontology.org/ontology/OMIM/MTHU004589","http://purl.bioontology.org/ontology/OMIM/MTHU037442","http://purl.bioontology.org/ontology/OMIM/MTHU059170","http://purl.bioontology.org/ontology/OMIM/MTHU000473","http://purl.bioontology.org/ontology/OMIM/MTHU001153","http://purl.bioontology.org/ontology/OMIM/MTHU002761","http://purl.bioontology.org/ontology/OMIM/MTHU000036","http://purl.bioontology.org/ontology/OMIM/MTHU000577","http://purl.bioontology.org/ontology/OMIM/MTHU079568","http://purl.bioontology.org/ontology/OMIM/MTHU000090","http://purl.bioontology.org/ontology/OMIM/MTHU012678","http://purl.bioontology.org/ontology/OMIM/MTHU079569","http://purl.bioontology.org/ontology/OMIM/MTHU000155","http://purl.bioontology.org/ontology/OMIM/MTHU038242","http://purl.bioontology.org/ontology/OMIM/MTHU036360","http://purl.bioontology.org/ontology/OMIM/MTHU042911","http://purl.bioontology.org/ontology/OMIM/MTHU001564","http://purl.bioontology.org/ontology/OMIM/MTHU047264","http://purl.bioontology.org/ontology/OMIM/MTHU001672","http://purl.bioontology.org/ontology/OMIM/MTHU000140","http://purl.bioontology.org/ontology/OMIM/MTHU032480","http://purl.bioontology.org/ontology/OMIM/MTHU000242"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["1q21.3"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["617481"],"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":["C4479566"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/617481","@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%2F617481","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617481/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617481/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617481/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617481/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617481/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617481/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617481/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617481/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F617481","@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":[]}}