Rare Disease Library

Autosomal dominant keratitis

Hereditary keratitis

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 keratoacanthoma

Hereditary keratoacanthoma · Multiple keratoacanthoma

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Fungal keratitis

Keratomycosis · Mycotic keratitis

Hereditary amyloidosis

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary ataxia

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 spherocytosis

Minkowski-Chauffard disease

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Keratitis fugax hereditaria

KFH · Keratoendotheliitis fugax hereditaria

OBSOLETE: Herpes simplex virus keratitis

OBSOLETE: HSV keratitis · OBSOLETE: Herpetic keratitis

Pediatric-onset glaucoma of genetic origin

Hereditary glaucoma

Southeast Asian ovalocytosis

Hereditary ovalocytosis · Melanesian elliptocytosis

White sponge nevus

Hereditary mucosal leukokeratosis · White sponge nevus of Cannon