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 ×

Testicular agenesis

Bilateral anorchia

ORPHA:325124

Bilateral multicystic dysplastic kidney

Bilateral MCDK · Bilateral multicystic renal dysplasia

ORPHA:97364

Choanal atresia, bilateral

ORPHA:137920

OBSOLETE: Apodia, bilateral

OBSOLETE: Congenital absence of foot, bilateral

ORPHA:295107