medgen-dis — HL7 International OID Registry
MedGen-disease is a subset disease concepts (about 20,000 as of January 2016) taken from the MedGEN table. It includes most known genetic and clinical diseases. It was derived from the NIH Genetic Testing Registry (GTR), UMLS, HPO, Orphanet, ClinVar and other sources, and is probably the most complete compendium of genetic diseases, though it also includes most common clinical diseases. It uses UMLS IDs when they exist and its own ID when not, and links to SNOMED CT and other identifiers. The MedGen data base includes the inheritance and clinical features of each disease, as well as the map location of underlying genetic basis.