Rare Disease Library

Pediatric-onset glaucoma of genetic origin

Hereditary glaucoma

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Autosomal dominant keratitis

Hereditary keratitis

Familial anetoderma

Hereditary anetoderma · Hereditary macular atrophy

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial cerebral cavernous malformation

Familial brain cavernous angioma · Familial cerebral cavernoma

Familial keratoacanthoma

Hereditary keratoacanthoma · Multiple keratoacanthoma

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Glomuvenous malformation

Glomangiomatosis · Hereditary multiple glomangiomas

Hereditary angioedema

Familial angioneurotic edema · HAE

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary ataxia

Hereditary breast cancer

Familial breast cancer · Familial breast carcinoma

Hereditary gastric cancer

Hereditary cancer of stomach

Hereditary geniospasm

Familial trembling of the chin · Hereditary chin myoclonus

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

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 retinoblastoma

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Non-hereditary retinoblastoma