Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

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No diseases found for “Immune Checkpoint Inhibitor-Related Inflammatory Arthritis

Our search works best with disease names, abbreviations, or known synonyms.

Try: "IgA nephropathy", "PKU", "Duchenne", "Fabry", or "cystic fibrosis".

Searching by symptoms? Try our Diagnosis Assist tool — describe your symptoms and get a list of possible rare diseases.

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