Rare Disease Library

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

Albright hereditary osteodystrophy

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

Hereditary bullous dystrophy, macular type

Pseudohypoparathyroidism type 1A

AHO-PHP syndrome Ia · Albright hereditary osteodystrophy-PHP syndrome Ia

Pseudohypoparathyroidism with Albright hereditary osteodystrophy

Pseudohypoparathyroidism without Albright hereditary osteodystrophy

Pseudopseudohypoparathyroidism

AHO-PPHP syndrome · Albright hereditary osteodystrophy-PPHP syndrome