{"id":"http://purl.bioontology.org/ontology/OMIM/620312","synonym":["VWM2"],"notation":"620312","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C5830404"],"prefLabel":"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2","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":["VWM2"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["EIF2B2","VWM2"],"http://purl.bioontology.org/ontology/OMIM/SOS":["19% had mutations in EIF2B2 [MISCELLANEOUS]","In mutational analysis of EIF2B genes in 68 families [MISCELLANEOUS]","Onset variable from infancy (early-onset) to adulthood (late-onset) [MISCELLANEOUS]","Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 2 gene (EIF2B2, 606454.0001) [MOLECULAR BASIS]","Chronic, progressive disease with episodes of rapid deterioration with loss of motor functioning and possible coma [MISCELLANEOUS]","Subset of patients with ovarian failure and later onset of neurologic dysfunction [MISCELLANEOUS]","Episodic deterioration provoked following fever or head trauma [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/MTHU077617","http://purl.bioontology.org/ontology/OMIM/MTHU077624","http://purl.bioontology.org/ontology/OMIM/MTHU073702","http://purl.bioontology.org/ontology/OMIM/MTHU000300","http://purl.bioontology.org/ontology/OMIM/MTHU077630","http://purl.bioontology.org/ontology/OMIM/MTHU077618","http://purl.bioontology.org/ontology/OMIM/MTHU050419","http://purl.bioontology.org/ontology/OMIM/MTHU077628","http://purl.bioontology.org/ontology/OMIM/MTHU034080","http://purl.bioontology.org/ontology/OMIM/MTHU000317","http://purl.bioontology.org/ontology/OMIM/MTHU077629","http://purl.bioontology.org/ontology/OMIM/MTHU077619","http://purl.bioontology.org/ontology/OMIM/MTHU077632","http://purl.bioontology.org/ontology/OMIM/MTHU000283","http://purl.bioontology.org/ontology/OMIM/MTHU077626","http://purl.bioontology.org/ontology/OMIM/MTHU001673","http://purl.bioontology.org/ontology/OMIM/MTHU077631","http://purl.bioontology.org/ontology/OMIM/MTHU001429","http://purl.bioontology.org/ontology/OMIM/MTHU077627","http://purl.bioontology.org/ontology/OMIM/MTHU077623","http://purl.bioontology.org/ontology/OMIM/MTHU038242","http://purl.bioontology.org/ontology/OMIM/MTHU025364","http://purl.bioontology.org/ontology/OMIM/MTHU077625","http://purl.bioontology.org/ontology/OMIM/MTHU036360","http://purl.bioontology.org/ontology/OMIM/MTHU002540","http://purl.bioontology.org/ontology/OMIM/MTHU077622","http://purl.bioontology.org/ontology/OMIM/MTHU077616","http://purl.bioontology.org/ontology/OMIM/MTHU036334","http://purl.bioontology.org/ontology/OMIM/MTHU001203","http://purl.bioontology.org/ontology/OMIM/MTHU001677","http://purl.bioontology.org/ontology/OMIM/MTHU000842","http://purl.bioontology.org/ontology/OMIM/MTHU049927","http://purl.bioontology.org/ontology/OMIM/MTHU077621","http://purl.bioontology.org/ontology/OMIM/MTHU077620","http://purl.bioontology.org/ontology/OMIM/MTHU000242","http://purl.bioontology.org/ontology/OMIM/MTHU077615"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["14q24"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["620312"],"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":["C5830404"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/620312","@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%2F620312","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620312/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620312/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620312/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620312/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620312/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620312/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620312/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620312/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F620312","@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:0x00007fcf92237cd8 /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":[]}}