External Resources

We rely on a set of external resources to facilitate participant data submission in a standard format.

• The Orphanet Rare Disease ontology (ORDO): https://orpha.net

• Online Mendelian Inheritance in Man (OMIM) : https://api.omim.org/

• The Human Phenotype Ontology (HPO) : https://hpo.jax.org/

• Gene Search (HUGO Gene Nomenclature Committee): https://www.genenames.org