Rare Disease Library

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

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 hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract disease · HHCS

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

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

Rare lens disease

Sickle cell S-Lepore disease

Hemoglobin S-Lepore disease · HbS-Lepore disease

Von Willebrand disease

Hereditary von Willebrand disease · Hereditary pseudohaemophilia