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"

13 matching diseasesClear search ×

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

ORPHA:100054

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

Hemoglobin Bart's fetalis syndrome

Alpha-thalassemia hydrops fetalis · Alpha-thalassemia major

ORPHA:163596

Acquired elastotic haemangioma

ORPHA:675597

Anastomosing haemangioma

ORPHA:675359

Microvenular haemangioma

MVH

ORPHA:675369

Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

ORPHA:431353