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"

15 matching diseasesClear search ×

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

ORPHA:100054

Acquired angioedema

AAE · Acquired C1 inhibitor deficiency

ORPHA:91385

Acquired angioedema type 1

Acquired angioneurotic edema type 1

ORPHA:100056

Acquired angioedema type 2

AAE 2 · AAE II

ORPHA:100055

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

ORPHA:64748

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

ORPHA:139547

Familial dysautonomia

HSAN3 · Hereditary sensory and autonomic neuropathy type 3

ORPHA:1764

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

Meige disease

Hereditary lymphedema type II · Meige lymphedema

ORPHA:90186

Milroy disease

Hereditary lymphedema type I · Nonne-Milroy lymphedema

ORPHA:79452

Non-histaminic angioedema

Angioneurotic edema · Bradykinine-induced angioedema

ORPHA:658