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.