Rare Disease Library

Hereditary leiomyomatosis and renal cell cancer

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

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

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 arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary ATTR amyloidosis

Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis

Hereditary elliptocytosis

HE

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

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

Lymphangioleiomyomatosis

LAM

Overhydrated hereditary stomatocytosis

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

White sponge nevus

Hereditary mucosal leukokeratosis · White sponge nevus of Cannon