Rare diseases and cross-referencing

XML format with CZ version

Language links size
English 28.51 MB

French 26.51 MB
Spanish 26.02 MB
Italian 25.62 MB
Portuguese 24.26 MB
German 25.63 MB
Dutch 24.70 MB
Polish 2.84 MB
Czech 23.81 MB

JSON format

Language links size
English 18.77 MB

French 18.15 MB
Spanish 17.61 MB
Italian 16.87 MB
Portuguese 16.10 MB
German 16.87 MB
Dutch 16.11 MB
Polish 15.64 MB
Czech 16.05 MB
  • What is the Orphanet nomenclature
      Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information systems: each disease in Orphanet is attributed a unique and stable identifier, the ORPHA number.
      Watch the "search for a disease in Orphanet" video tutorial.
    • What's new?
    • The inventory of rare disorders is also available in Polish.
    • Types of disorders: Disorders in the database are comprised of a heterogeneous typology of entities of decreasing extension, including: groups of disorders, rare disorders, sub-types. A "rare disorder" in the database can be a disease, a malformation syndrome, a clinical syndrome, a morphological or a biological anomaly or a particular clinical situation (in the course of a disorder).
    • Flags of disorders: A flag is a numerical indication attached to an element of the database in order to allow information to be retrieved:
      • Head of classification: This is the top level of a given classification (e.g. rare cardiac disease for Orphanet classifications of rare cardiac diseases)
      • Historical entity: Entities that were described a long time ago, mostly before the genetic era, and for which the princeps article is still available but no further literature exists that confirms their existence.
      • Deprecated entity: These are entities formerly considered as true diseases and now recognised as being part of another disorder in the database.
    • New relations between disorders: We establish a "Moved to" relationship between a deprecated entity and a disorder when the former is part of the latter.
    • Characterisation of the alignments between disorders and external terminologies or resources: OMIM, ICD10, MeSH, UMLS, MedDRA and GARD: These alignments are further characterised in order to specify if the terms are perfectly equivalent (exact mapping) or not.
    • Furthermore, for ICD10 it is indicated if a specific code exists in ICD10 for the disorder, or if it is listed in the tabular list or in the index in ICD10 without having a specific code, or if Orphanet has attributed the code together with the validation status for the attribution. The procedure followed by Orphanet to attribute ICD10 codes rare diseases is available here : Orphanet_ICD10_coding_rules.pdf

For more information, see the user's guide

previous XML format version

Language links size
English 7.96 MB

French 8.00 MB
Spanish 7.89 MB
Italian 7.91 MB
Portuguese 7.50 MB
German 7.83 MB
Dutch 8.02 MB

For more information, go to the presentation "Orphadata : how are the data produced ?"

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