Rare Disease Library

Familial anetoderma

Hereditary anetoderma · Hereditary macular atrophy

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Hereditary acrokeratotic poikiloderma

Weary syndrome

Hereditary amyloidosis

Hereditary angioedema

Familial angioneurotic edema · HAE

Hereditary angioedema type 1

HAE · HAE 1

Hereditary angioedema type 2

HAE · HAE 2

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary ataxia

Hereditary neuroendocrine tumor of small intestine

Small intestine hereditary neuroendocrine tumor · Hereditary neuroendocrine tumor of small bowel

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

Hereditary poikiloderma

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Keratoderma hereditarium mutilans

Mutilating keratoderma plus hearing loss · Mutilating keratoderma of Vohwinkel

Pediatric-onset glaucoma of genetic origin

Hereditary glaucoma

Primary anetoderma

Primary macular atrophy