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"

200 matching diseasesClear search ×

Rare infantile hemangioma

Infantile hemangioma of rare localization

ORPHA:210589

Rare non-acquired premature ovarian failure

ORPHA:95710

Rare peripheral precocious puberty in female

ORPHA:650187

Rare precocious puberty in female

ORPHA:435561

Rare thrombotic disease of hematologic origin

ORPHA:182054

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ACEI-related acquired angioedema · Acquired angioedema with normal C1INH

ORPHA:100057

Retiform hemangioendothelioma

ORPHA:458763

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

ORPHA:313800