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"

4 matching diseasesClear search ×

OBSOLETE: Rare bone disease with limb reduction defect

OBSOLETE: Rare bone disease with limb hypoplasia

ORPHA:328269

OBSOLETE: Rare acquired eye disease

ORPHA:101949

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

ORPHA:3128

Rare bone disease

ORPHA:93419