Saturday, 25 March, 2017

Orphadata : How are the data produced? A quick overview




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Description of the freely-accessible dataset


The dataset is a partial extraction of the data stored in Orphanet, which is also accessible at www.orpha.net for consultation purposes only.
This freely-accessible dataset is available in six languages (English, French, German, Italian, Portuguese and Spanish). It includes:

  • An inventory of rare diseases, cross-referenced with OMIM, ICD-10 and with genes in HGNC, OMIM, UniProtKB and Genatlas
  • A classification of rare diseases established by Orphanet, based on published expert classifications
  • Epidemiology data related to rare diseases in Europe (class of prevalence, average age of onset, average age at death) extracted from the literature
  • A list of signs and symptoms associated with each disease, with their frequency class within the disease
  • The list of Orpha signs and symptoms used to annotate the diseases, cross-referenced with other nomenclatures: HPO, PhenoDB, LDDB.

Only non-nominative data are accessible in accordance with personal data protection laws.
The dataset is updated once a month. The date of the last release is indicated.

Conditions to access other types of Orphanet data


Orphadata provides access, on request, to other elements of the Orphanet database after signature of a Material Transfer Agreement.
Please find the


The products which can be licenced include:

  • An inventory of Orphan Drugs at all stages of development, from EMA (European Medicines Agency) orphan designation to European market authorization, cross-linked with diseases.
  • Summary information on each rare disease in six languages (English, French, German, Italian, Spanish, Portuguese)
  • URLs of other websites providing information on specific rare diseases
  • A directory of specialised services, providing information on centers of expertise, medical laboratories, diagnostic tests, research projects, clinical trials, patient registries, mutation registries, biobanks and patient organizations in the field of rare diseases, in each of the countries in Orphanet�s network.

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