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"

11 matching diseasesClear search ×

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

ORPHA:100054

Acquired angioedema type 2

AAE 2 · AAE II

ORPHA:100055

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

ORPHA:64748

Familial hyperaldosteronism type III

FH-III · FH3

ORPHA:251274

Hereditary angioedema

Familial angioneurotic edema · HAE

ORPHA:91378

Hereditary angioedema type 1

HAE · HAE 1

ORPHA:100050

Hereditary angioedema type 2

HAE · HAE 2

ORPHA:100051

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

Hereditary angioedema with normal C1Inh not related to F12 or PLG variant

HAE

ORPHA:599418

PLG-related hereditary angioedema with normal C1Inh

HAE · PLG-related HAE with normal C1 inhibitor

ORPHA:537072