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"

9 matching diseasesClear search ×

Congenital pancreatic cyst

Neonatal congenital pancreatic cyst · True congenital pancreatic cyst

ORPHA:313906

Congenital cystic eye

Congenital anophthalmos with cyst

ORPHA:519384

Congenital laryngeal cyst

ORPHA:141124

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital temporomandibular joint ankylosis

Congenital trismus

ORPHA:210576

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Lymphoepithelial cyst of the pancreas

Pancreatic lymphoepithelial cyst

ORPHA:697132

Partial pancreatic agenesis

Congenital pancreatic agenesis · Partial agenesis of the pancreas

ORPHA:2805