Orphanet maintains the Orphanet nomenclature of rare diseases (ORPHAcodes), a unique and multilingual standard and a specific terminology for rare diseases, essential in improving rare disease visibility in health and research information systems. Orphadata provides several data formats, extracted twice a year, from the Orphanet scientific knowledge base that facilitate the exploitation of various rare disease-related datasets:
- Rare diseases aligned with terminologies and databases.
- Classification of rare diseases.
- Linearisation of rare diseases.
- Genes associated with rare diseases.
- Clinical signs and symptoms in rare diseases.
- Epidemiology of rare diseases.
- Natural history of rare diseases.
- Rare diseases and functional consequences
Available through 4 distinct services: