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 ×

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

ORPHA:75381

Familial melanoma

ORPHA:618

Familial multinodular goiter

Familial multinodular goiter syndrome · FMNG

ORPHA:276399

Hereditary angioedema

Familial angioneurotic edema · HAE

ORPHA:91378