appears_in: [] banana: Orphanet banana_peel: _ contact: email: ordo.orphanet@inserm.fr name: Ana Rath orcid: 0000-0003-4308-6337 depends_on: [] deprecated: false description: "The Orphanet Rare Disease ontology (ORDO) is a structured vocabulary\ \ for rare diseases, capturing relationships between diseases, genes and other relevant\ \ features which will form a useful resource for the computational analysis of rare\ \ diseases.\r\nIt integrates a nosology (classification of rare diseases), relationships\ \ (gene-disease relations, epiemological data) and connections with other terminologies\ \ (MeSH, UMLS, MedDRA), databases (OMIM, UniProtKB, HGNC, ensembl, Reactome, IUPHAR,\ \ Geantlas) and classifications (ICD10)." download_owl: http://www.orphadata.org/data/ORDO/ordo_orphanet.owl example: C023 example_extras: - '478' homepage: https://www.ebi.ac.uk/ols4/ontologies/ordo keywords: - biomedical science - diagnosis - disease - gene - health science - ontology - phenotype - rare disease mappings: aberowl: ordo biocontext: ORPHANET.ORDO biolink: ORPHA bioportal: ORDO cellosaurus: ORDO fairsharing: FAIRsharing.pbbnwa miriam: orphanet.ordo n2t: orphanet.ordo ols: ordo name: Orphanet Rare Disease Ontology namespace_in_lui: false pattern: ^C?\d+$ preferred_prefix: orphanet.ordo prefix: orphanet.ordo providers: [] publications: - pubmed: '22874158' title: 'Rare diseases knowledge management: the contribution of proximity measurements in OntoOrpha and OMIM' year: 2012 synonyms: - ordo uri_format: http://www.orpha.net/ORDO/Orphanet_$1 version: '4.4'