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 ×

Synpolydactyly type 3

SD2, Malik type · SD2c

ORPHA:295199

Mesoaxial synostotic syndactyly with phalangeal reduction

MSSD · Syndactyly type 9

ORPHA:157801

Synpolydactyly type 2

SD2, Debeer type · SD2b

ORPHA:295197