Orphanet made available twice a year :
- ORDO to provide a structured vocabulary for rare diseases, capturing relationships between diseases, genes and other relevant features, forming a useful resource for the computational analysis of rare diseases.
- HOOM, a module that qualifies the annotation between a rare disease and phenotypic abnormalities according to a frequency and by integrating the notion of diagnostic criterion.
- SPARQL endpoints for ORDO and HOOM
All files are available under the Commons Attribution 4.0 International (CC BY 4.0) licence
These products have been recognised as an Elixir Core Data Resource
These products are an IRDiRC regognized resources.