Rare Disease Library

Hereditary neuroendocrine tumor of small intestine

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

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Autosomal dominant keratitis

Hereditary keratitis

Dehydrated hereditary stomatocytosis

Hereditary xerocytosis

Familial anetoderma

Hereditary anetoderma · Hereditary macular atrophy

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Genetic nephrotic syndrome

Hereditary nephrotic syndrome

Hereditary amyloidosis

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

Hereditary angioedema

Familial angioneurotic edema · HAE

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary ataxia

Hereditary dentin defect

Hereditary fructose intolerance

Hereditary fructose-1-phosphate aldolase deficiency · Hereditary fructosemia

Hereditary geniospasm

Familial trembling of the chin · Hereditary chin myoclonus

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hereditary neutrophilia

Hereditary optic neuropathy

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

Hereditary poikiloderma

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

Hereditary sick sinus syndrome

Hereditary spherocytosis

Minkowski-Chauffard disease

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Hereditary xanthinuria

Classic xanthinuria · Xanthic urolithiasis

Hypotrichosis simplex

Hereditary hypotrichosis simplex

Isolated familial medullary thyroid carcinoma

Hereditary isolated MTC · Isolated familial MTC

OBSOLETE: Familial cervical artery dissection

OBSOLETE: Familial CAD · OBSOLETE: Hereditary CAD

Pediatric-onset glaucoma of genetic origin

Hereditary glaucoma

Southeast Asian ovalocytosis

Hereditary ovalocytosis · Melanesian elliptocytosis