Rare Disease Library

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

SPLIS · Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency

Gabriele-de Vries syndrome

YY1 haploinsufficiency syndrome

Lamb-Shaffer syndrome

SOX5 haploinsufficiency syndrome

Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency

3-phosphoserine phosphatase deficiency, prenatal form

PDE4D haploinsufficiency syndrome