{"prefix":"ghr","name":"Genetics Home Reference","description":"MedlinePlus Genetics contains detailed information about the effects of genetic variation on human health, covering more than 1,300 genetic conditions and 1,400 genes, all of the human chromosomes, and mitochondrial DNA (mtDNA).","uri_format":"https://medlineplus.gov/genetics/condition/$1","providers":[{"code":"bio2rdf","name":"Bio2RDF","description":"Bio2RDF is an open-source project that uses Semantic Web technologies to build and provide the largest network of Linked Data for the Life Sciences. Bio2RDF defines a set of simple conventions to create RDF(S) compatible Linked Data from a diverse set of heterogeneously formatted sources obtained from multiple data providers.","homepage":"https://bio2rdf.org","uri_format":"http://bio2rdf.org/ghr:$1"}],"homepage":"https://medlineplus.gov/genetics/condition","example":"saddan","example_extras":[],"deprecated":false,"mappings":{"prefixcommons":"ghr"},"synonyms":[],"keywords":["gene"],"publications":[],"appears_in":[],"depends_on":[],"namespace_in_lui":false,"contributor":{"name":"Charles Tapley Hoyt","orcid":"0000-0003-4423-4370","email":"cthoyt@gmail.com","github":"cthoyt"},"preferred_prefix":"ghr"}