Orphanet portal for rare diseases and orphan drugs

Orphanet is a web-based portal of multilingual information on rare diseases. Orphanet represents information in several levels: lexical, nosological (multi hierarchical classifications), relational (annotations-epidemiological data-and classes of objects-genes, manifestations, and orphan drugs-integrated in a relational database), and interoperation (semantic interoperability). Orphanet maps rare disorders to the International Classification of Diseases, SNOMED CT, MeSH, MedDRA, UMLS, and genes cross-referenced with HGNC, UniProt, OMIM, and Genatlas. The total budget for the year 2018 was ~2.84 million Euros.

Topic

Small molecules;Pathology;Rare diseases

Detail

  • Operation: Query and retrieval

  • Software interface: Database portal

  • Language: -

  • License: -

  • Cost: Free

  • Version name: -

  • Credit: DG SANTE, DG RESEARCH, AFM, CNSA Valorisation, OJRD, DGS, Inserm, The Heath Programme of the European Union.

  • Input: -

  • Output: -

  • Contact: -

  • Collection: -

  • Maturity: Mature

Publications

  • Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.
  • Rath A, Olry A, Dhombres F, Brandt MM, Urbero B, Ayme S. Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Hum Mutat. 2012 May;33(5):803-8.
  • https://doi.org/10.1002/humu.22078
  • PMID: 22422702
  • PMC: -

Download and documentation

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