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 ×

Familial cerebral cavernous malformation

Familial brain cavernous angioma · Familial cerebral cavernoma

ORPHA:221061

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 breast cancer

Familial breast cancer · Familial breast carcinoma

ORPHA:227535

Macrocystic lymphatic malformation

Cavernous lymphangioma · Cavernous lymphatic malformation

ORPHA:79489

Retinal capillary malformation

Retinal cavernous hemangioma

ORPHA:71213