Rare Disease Library

Dehydrated hereditary stomatocytosis

Hereditary xerocytosis

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Autosomal dominant keratitis

Hereditary keratitis

Common hereditary elliptocytosis

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Familial thrombocytosis

Familial thrombocythemia · Hereditary thrombocythemia

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 cryohydrocytosis with normal stomatin

Hereditary cryohydrocytosis with reduced stomatin

CHC type 2 · Hereditary cryohydrocytosis type 2

Hereditary elliptocytosis

HE

Hereditary fructose intolerance

Hereditary fructose-1-phosphate aldolase deficiency · Hereditary fructosemia

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

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 progressive mucinous histiocytosis

Hereditary pyropoikilocytosis

Hereditary spherocytosis

Minkowski-Chauffard disease

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Hereditary xanthinuria

Classic xanthinuria · Xanthic urolithiasis

Homozygous hereditary elliptocytosis

Overhydrated hereditary stomatocytosis

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