Orphanet

Orphanet is a European reference portal dedicated to information on rare diseases and orphan drugs. It provides high-quality, freely accessible information to improve diagnosis, care, and research for rare conditions. Each disease entry is assigned a unique Orpha number and cross-referenced with ICD classifications and genetic information to help standardize terminology and reporting.

The Orphanet database covers disease descriptions, inheritance patterns, clinical signs, differential diagnoses, diagnostic tests, management options, and prognosis. It also includes bibliographic references, links to clinical guidelines, and resources related to research and therapy development. In addition to diseases, Orphanet provides information on genes, animal models, and phenotypic features, facilitating connections between clinicians, researchers, and patients. The portal maintains directories of Centres of Expertise, clinical laboratories, and patient organizations, supporting referral networks and patient support across Europe and beyond.

Orphanet serves as a resource for clinicians, researchers, patients, and policymakers. It supports new drug development and regulatory considerations by offering standardized disease terminology and background data. The platform also hosts the Orphanet Journal of Rare Diseases, a peer-reviewed publication that disseminates research in the field. Data are contributed by national partner networks and curated by experts to ensure quality and consistency.

Governance and funding have evolved since its inception in the late 1990s. Orphanet began as a European Commission–supported project and is now operated by Orphanet International, a consortium of European partners, with ongoing support from the European Union and member states. The portal aims to be a comprehensive, multilingual, international resource for rare diseases and related therapies.