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"

6 matching diseasesClear search ×

Partial pancreatic agenesis

Congenital pancreatic agenesis · Partial agenesis of the pancreas

ORPHA:2805

Agenesis of the superior vena cava

Absence of the superior caval vein · Absence of the superior vena cava

ORPHA:99114

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

ORPHA:495879

Congenital partial agenesis of pericardium

ORPHA:99130

Isolated partial vaginal agenesis

Congenital absence of vagina

ORPHA:96269

Lymphoepithelial cyst of the pancreas

Pancreatic lymphoepithelial cyst

ORPHA:697132