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 ×

Genitopalatocardiac syndrome

Gardner-Silengo-Wachtel syndrome

ORPHA:2075

Autoerythrocyte sensitization syndrome

GDS · Gardner-Diamond syndrome

ORPHA:324636

Gardner syndrome

ORPHA:79665

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

ORPHA:898