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"

3 matching diseasesClear search ×

Alveolar soft tissue sarcoma

Alveolar soft part sarcoma · ASPS

ORPHA:163699

Angel-shaped phalango-epiphyseal dysplasia

ASPED

ORPHA:63442

Familial advanced sleep-phase syndrome

FASPS

ORPHA:164736