{"id":"http://purl.bioontology.org/ontology/OMIM/277380","synonym":["MAHCF","cblF","VITAMIN B12 LYSOSOMAL RELEASE DEFECT","METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE","COBALAMIN F DISEASE","METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT","VITAMIN B12 STORAGE DISEASE","COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF"],"notation":"277380","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C1848578"],"prefLabel":"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE","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":["MAHCF","cblF","VITAMIN B12 LYSOSOMAL RELEASE DEFECT","METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE","COBALAMIN F DISEASE","METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT","VITAMIN B12 STORAGE DISEASE","COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["MAHCF","LMBRD1","LMBD1","NESI"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the LMBR1 domain-containing protein 1 gene (LMBRD1, 612625.0001). [MOLECULAR BASIS]","Onset in infancy [MISCELLANEOUS]","See also CblC (277400) [MISCELLANEOUS]","Responsive to vitamin B12 therapy [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/MTHU001686","http://purl.bioontology.org/ontology/OMIM/MTHU008825","http://purl.bioontology.org/ontology/OMIM/MTHU008854","http://purl.bioontology.org/ontology/OMIM/MTHU008853","http://purl.bioontology.org/ontology/OMIM/MTHU000506","http://purl.bioontology.org/ontology/OMIM/MTHU000197","http://purl.bioontology.org/ontology/OMIM/MTHU008860","http://purl.bioontology.org/ontology/OMIM/MTHU000185","http://purl.bioontology.org/ontology/OMIM/MTHU000583","http://purl.bioontology.org/ontology/OMIM/MTHU000212","http://purl.bioontology.org/ontology/OMIM/MTHU028684","http://purl.bioontology.org/ontology/OMIM/MTHU000512","http://purl.bioontology.org/ontology/OMIM/MTHU036357","http://purl.bioontology.org/ontology/OMIM/MTHU008858","http://purl.bioontology.org/ontology/OMIM/MTHU028681","http://purl.bioontology.org/ontology/OMIM/MTHU008826","http://purl.bioontology.org/ontology/OMIM/MTHU008840","http://purl.bioontology.org/ontology/OMIM/MTHU037634","http://purl.bioontology.org/ontology/OMIM/MTHU008841","http://purl.bioontology.org/ontology/OMIM/MTHU037510","http://purl.bioontology.org/ontology/OMIM/MTHU028680","http://purl.bioontology.org/ontology/OMIM/MTHU008859","http://purl.bioontology.org/ontology/OMIM/MTHU000081","http://purl.bioontology.org/ontology/OMIM/MTHU001330","http://purl.bioontology.org/ontology/OMIM/MTHU036683","http://purl.bioontology.org/ontology/OMIM/MTHU037108","http://purl.bioontology.org/ontology/OMIM/MTHU036852","http://purl.bioontology.org/ontology/OMIM/MTHU037722","http://purl.bioontology.org/ontology/OMIM/MTHU000094","http://purl.bioontology.org/ontology/OMIM/MTHU008399"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["6q13"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["277380"],"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":["C1848578"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/277380","@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%2F277380","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F277380/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F277380/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F277380/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F277380/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F277380/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F277380/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F277380/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F277380/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F277380","@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:0x00007f8d4ca9cf78 /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":[]}}