Orphadata API provides several GET to 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 related to rare diseases
These data are updated twice a year (July and December) and are also available as downloadable files both in XML and JSON formats.
Data description is available here and for further information please contact Orphadata.
