Rare Disease Library

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Autosomal dominant keratitis

Hereditary keratitis

Dehydrated hereditary stomatocytosis

Hereditary xerocytosis

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Hereditary amyloidosis

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary ataxia

Hereditary ATTR amyloidosis

Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis

Hereditary elliptocytosis

HE

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 progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

Hereditary pyropoikilocytosis

Hereditary spherocytosis

Minkowski-Chauffard disease

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Hypotrichosis simplex

Hereditary hypotrichosis simplex

OBSOLETE: Familial cervical artery dissection

OBSOLETE: Familial CAD · OBSOLETE: Hereditary CAD

Pediatric-onset glaucoma of genetic origin

Hereditary glaucoma

Rare hereditary hemochromatosis

Iron overload disease

Southeast Asian ovalocytosis

Hereditary ovalocytosis · Melanesian elliptocytosis

TFR2-related hemochromatosis

Hereditary hemochromatosis type 3