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"

2 matching diseasesClear search ×

BAP1-related tumor predisposition syndrome

Tumor susceptibility linked to germline BAP1 mutations

ORPHA:289539

Benign atrophic papulosis

BAP

ORPHA:656085