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 ×

PLG-related hereditary angioedema with normal C1Inh

HAE · PLG-related HAE with normal C1 inhibitor

ORPHA:537072

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

ORPHA:100054

Hereditary angioedema with C1Inh deficiency

HAE · HAE with C1 inhibitor deficiency

ORPHA:528623

Hereditary angioedema with normal C1Inh

HAE · HAE with normal C1 inhibitor

ORPHA:528647

OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh

OBSOLETE: ANGPT1-related HAE with normal C1 inhibitor

ORPHA:537891

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ACEI-related acquired angioedema · Acquired angioedema with normal C1INH

ORPHA:100057