Resources built for the conditions that conventional databases under-serve. Curated nomenclatures, patient registries, advocacy-led portals — the scaffolding rare-disease diagnosis and trial recruitment depend on.
Founded in France in 1997 and now spanning roughly 40 countries, the leading European portal for rare diseases and orphan drugs. Maintains the ORPHAcode nomenclature, lists thousands of rare diseases with epidemiology and inheritance, and feeds Orphadata and the ORDO ontology.
An NIH program run by NCATS offering free, plain-language summaries on over 6,500 rare diseases — covering symptoms, causes, treatments, prevalence, diagnosis and current research. The main U.S. patient- and clinician-facing rare disease portal.
Curated by NORD, publishes detailed reports on rare diseases — symptoms, causes, diagnosis, treatments and clinical trials — developed in close collaboration with Mondo, Orphanet and OMIM and supplemented by patient-advocacy resources.
Maintained at Johns Hopkins and updated daily, the authoritative compendium of human genes and Mendelian disorders, with information on 7,000+ genetic conditions and 15,000+ genes. Each entry has a unique MIM number and is curated from the primary literature — the gold-standard reference for inherited disease.
A multilingual online platform hosting moderated patient communities for individual rare diseases. Less of a structured scientific database and more a peer-to-peer information network — complementing clinical databases with lived-experience data.
The U.S. RaDaR programme and the European Reference Networks' disease-specific registries house longitudinal patient-level data for hundreds of individual rare conditions. Critical infrastructure for natural-history studies and trial recruitment.
Orphadata distributes Orphanet's data in machine-readable formats; the Orphanet Rare Disease Ontology (ORDO) provides a structured vocabulary linking rare diseases to genes, phenotypes and epidemiology for computational analyses.