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"

10 matching diseasesClear search ×

Congenital nephrotic syndrome, Finnish type

Finnish congenital nephrosis

ORPHA:839

Congenital megacalycosis

ORPHA:93109

Congenital mesoblastic nephroma

ORPHA:2665

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital pseudoarthrosis of the fibula

Congenital pseudarthrosis of the fibula

ORPHA:295022

Congenital ptosis

ORPHA:91411

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

ORPHA:858

Leber congenital amaurosis

Amaurosis congenita of Leber

ORPHA:65

OBSOLETE: Congenital hydronephrosis

ORPHA:2190

Pierson syndrome

Microcoria-congenital nephrosis syndrome

ORPHA:2670