Rare Disease Library

Fragile X-associated primary ovarian insufficiency

FXPOI · Fragile X-associated POI

Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency

Evans syndrome associated with primary immunodeficiency · TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease

OBSOLETE: Platelet function disease associated with renal insufficiency