{"id":"http://purl.bioontology.org/ontology/OMIM/607088","synonym":["NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 3","HMN IV","HMN3","NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IV","NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE III","NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IV","DSMA3","HMN4","SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3","HMN III","DHMN3","HMNR3","DHMN4"],"notation":"607088","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C1846823"],"prefLabel":"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 3","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":["NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 3","HMN IV","HMN3","NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IV","NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE III","NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IV","DSMA3","HMN4","SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3","HMN III","DHMN3","HMNR3","DHMN4"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["HMNR3"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Slowly progressive [MISCELLANEOUS]","Age of onset ranges from infancy to young adulthood (6 months-19 years) [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/MTHU003664","http://purl.bioontology.org/ontology/OMIM/MTHU003658","http://purl.bioontology.org/ontology/OMIM/MTHU003659","http://purl.bioontology.org/ontology/OMIM/MTHU003655","http://purl.bioontology.org/ontology/OMIM/MTHU003662","http://purl.bioontology.org/ontology/OMIM/MTHU003665","http://purl.bioontology.org/ontology/OMIM/MTHU003660","http://purl.bioontology.org/ontology/OMIM/MTHU003663","http://purl.bioontology.org/ontology/OMIM/MTHU001118","http://purl.bioontology.org/ontology/OMIM/MTHU003656","http://purl.bioontology.org/ontology/OMIM/MTHU003657","http://purl.bioontology.org/ontology/OMIM/MTHU003661"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["11q13"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Mendelian phenotype or locus, molecular basis unknown."],"http://www.w3.org/2004/02/skos/core#notation":["607088"],"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":["C1846823"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["5"],"http://www.w3.org/2004/02/skos/core#prefLabel":["NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 3"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["perc"]},"@id":"http://purl.bioontology.org/ontology/OMIM/607088","@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%2F607088","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607088/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607088/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607088/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607088/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607088/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607088/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607088/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607088/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F607088","@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":[]}}