Rare Disease Library

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

Acquired angioedema type 1

Acquired angioneurotic edema type 1

Acquired angioedema type 2

AAE 2 · AAE II

AGel amyloidosis

Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

Distal spinal muscular atrophy type 3

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

Familial anetoderma

Hereditary anetoderma · Hereditary macular atrophy

Familial cerebral cavernous malformation

Familial brain cavernous angioma · Familial cerebral cavernoma

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Hereditary angioedema

Familial angioneurotic edema · HAE

Hereditary angioedema type 1

HAE · HAE 1

Hereditary angioedema type 2

HAE · HAE 2

Hereditary angioedema with C1Inh deficiency

HAE · HAE with C1 inhibitor deficiency

Hereditary angioedema with normal C1Inh

HAE · HAE with normal C1 inhibitor

Meige disease

Hereditary lymphedema type II · Meige lymphedema

Milroy disease

Hereditary lymphedema type I · Nonne-Milroy lymphedema

PLG-related hereditary angioedema with normal C1Inh

HAE · PLG-related HAE with normal C1 inhibitor

TFR2-related hemochromatosis

Hereditary hemochromatosis type 3