June-2017  

Rare diseases and cross-referencing

XML format

Language links size
English http://www.orphadata.org/data/xml/en_product1.xml 27.54 MB

French http://www.orphadata.org/data/xml/fr_product1.xml 26.36 MB
Spanish http://www.orphadata.org/data/xml/es_product1.xml 25.67 MB
Italian http://www.orphadata.org/data/xml/it_product1.xml 25.55 MB
Portuguese http://www.orphadata.org/data/xml/pt_product1.xml 24.29 MB
German http://www.orphadata.org/data/xml/de_product1.xml 25.56 MB
Dutch http://www.orphadata.org/data/xml/nl_product1.xml 24.66 MB
Polish http://www.orphadata.org/data/xml/pl_product1.xml 24.12 MB

JSON format

Language links size
English http://www.orphadata.org/data/export/en_product1.json 17.93 MB

French http://www.orphadata.org/data/export/fr_product1.json 17.96 MB
Spanish http://www.orphadata.org/data/export/es_product1.json 17.26 MB
Italian http://www.orphadata.org/data/export/it_product1.json 16.76 MB
Portuguese http://www.orphadata.org/data/export/pt_product1.json 16.06 MB
German http://www.orphadata.org/data/export/de_product1.json 16.76 MB
Dutch http://www.orphadata.org/data/export/nl_product1.json 16.03 MB
Polish http://www.orphadata.org/data/export/pl_product1.json 15.51 MB
    • 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 http://www.orphadata.org/data/xml/en_product1_retro.xml 7.96 MB

French http://www.orphadata.org/data/xml/fr_product1_retro.xml 8.00 MB
Spanish http://www.orphadata.org/data/xml/es_product1_retro.xml 7.89 MB
Italian http://www.orphadata.org/data/xml/it_product1_retro.xml 7.91 MB
Portuguese http://www.orphadata.org/data/xml/pt_product1_retro.xml 7.50 MB
German http://www.orphadata.org/data/xml/de_product1_retro.xml 7.83 MB
Dutch http://www.orphadata.org/data/xml/nl_product1_retro.xml 8.02 MB

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

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