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"

8 matching diseasesClear search ×

Peters anomaly

Peters congenital glaucoma

ORPHA:708

Congenital glaucoma

Buphthalmia · Buphthalmos

ORPHA:98976

Congenital hemangioma

ORPHA:458775

Congenital ptosis

ORPHA:91411

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675