{"id":"http://purl.bioontology.org/ontology/OMIM/614813","synonym":["SOFT","SOFT SYNDROME"],"notation":"614813","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C3542022"],"prefLabel":"SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS","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":["SOFT","SOFT SYNDROME"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["PIX2","POC1A","SOFT"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the POC1 centriolar protein A gene (POC1A, 614783.0001) [MOLECULAR BASIS]","Waddling gait [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/MTHU002791","http://purl.bioontology.org/ontology/OMIM/MTHU036519","http://purl.bioontology.org/ontology/OMIM/MTHU000229","http://purl.bioontology.org/ontology/OMIM/MTHU001504","http://purl.bioontology.org/ontology/OMIM/MTHU069444","http://purl.bioontology.org/ontology/OMIM/MTHU000601","http://purl.bioontology.org/ontology/OMIM/MTHU000263","http://purl.bioontology.org/ontology/OMIM/MTHU067886","http://purl.bioontology.org/ontology/OMIM/MTHU000506","http://purl.bioontology.org/ontology/OMIM/MTHU001623","http://purl.bioontology.org/ontology/OMIM/MTHU000197","http://purl.bioontology.org/ontology/OMIM/MTHU040324","http://purl.bioontology.org/ontology/OMIM/MTHU040331","http://purl.bioontology.org/ontology/OMIM/MTHU002083","http://purl.bioontology.org/ontology/OMIM/MTHU002677","http://purl.bioontology.org/ontology/OMIM/MTHU040333","http://purl.bioontology.org/ontology/OMIM/MTHU040338","http://purl.bioontology.org/ontology/OMIM/MTHU000580","http://purl.bioontology.org/ontology/OMIM/MTHU005636","http://purl.bioontology.org/ontology/OMIM/MTHU040336","http://purl.bioontology.org/ontology/OMIM/MTHU040325","http://purl.bioontology.org/ontology/OMIM/MTHU069445","http://purl.bioontology.org/ontology/OMIM/MTHU040335","http://purl.bioontology.org/ontology/OMIM/MTHU040337","http://purl.bioontology.org/ontology/OMIM/MTHU000560","http://purl.bioontology.org/ontology/OMIM/MTHU000565","http://purl.bioontology.org/ontology/OMIM/MTHU005257","http://purl.bioontology.org/ontology/OMIM/MTHU000073","http://purl.bioontology.org/ontology/OMIM/MTHU040339","http://purl.bioontology.org/ontology/OMIM/MTHU040334","http://purl.bioontology.org/ontology/OMIM/MTHU037275","http://purl.bioontology.org/ontology/OMIM/MTHU040328","http://purl.bioontology.org/ontology/OMIM/MTHU040323","http://purl.bioontology.org/ontology/OMIM/MTHU002674","http://purl.bioontology.org/ontology/OMIM/MTHU021361","http://purl.bioontology.org/ontology/OMIM/MTHU040330","http://purl.bioontology.org/ontology/OMIM/MTHU000710","http://purl.bioontology.org/ontology/OMIM/MTHU009268","http://purl.bioontology.org/ontology/OMIM/MTHU069446","http://purl.bioontology.org/ontology/OMIM/MTHU001895","http://purl.bioontology.org/ontology/OMIM/MTHU001753","http://purl.bioontology.org/ontology/OMIM/MTHU003747","http://purl.bioontology.org/ontology/OMIM/MTHU040332","http://purl.bioontology.org/ontology/OMIM/MTHU040329"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["3p21.2"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["614813"],"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":["C3542022"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/614813","@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%2F614813","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614813/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614813/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614813/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614813/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614813/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614813/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614813/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614813/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F614813","@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":[]}}