Rare Disease Library

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

Erythroderma desquamativum

Leiner disease

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Genetic cystic renal disease

Hereditary cystic renal disease

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary ataxia

Hereditary dentin defect

Hereditary hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract disease · HHCS

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

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 steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

OBSOLETE: Hereditary pediatric Behçet-like disease

OBSOLETE: Behçet-like disease due to HA20 · OBSOLETE: Behçet-like disease due to haploinsufficiency of A20

OBSOLETE: Rare hereditary iron overload disease

Rare hereditary autoinflammatory disease

Rare hereditary connective tissue disease

Rare hereditary disease with avascular necrosis

Rare hereditary disease with peripheral neuropathy

Sickle cell S-Lepore disease

Hemoglobin S-Lepore disease · HbS-Lepore disease

Von Willebrand disease

Hereditary von Willebrand disease · Hereditary pseudohaemophilia