Rare Disease Library

Wiskott-Aldrich syndrome

Eczema-thrombocytopenia-immunodeficiency syndrome · WAS

Absent thumb-short stature-immunodeficiency syndrome

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

Autoimmune thrombocytopenia

Braddock-Carey syndrome

Thrombocytopenia-Robin sequence syndrome

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

Griscelli syndrome

Chédiak-Higashi-like syndrome · Griscelli-Pruniéras syndrome

Hoyeraal-Hreidarsson syndrome

Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome

Immune thrombocytopenia

ITP · Immune thrombocytopenic purpura

Immunodeficiency syndrome with autoimmunity

Kasabach-Merritt phenomenon

Hemangioma-thrombocytopenia syndrome

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Periodic fever-immunodeficiency-thrombocytopenia syndrome

PFITS

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

Primary immunodeficiency syndrome due to P14 deficiency · Primary immunodeficiency syndrome due to LAMTOR2 deficiency

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

Syndrome with combined immunodeficiency

TAFRO syndrome

Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

WILD syndrome · Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome