You are using an outdated browser. Please upgrade your browser to improve your experience.

combined immunodeficiency with skin granulomas

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Uniprot Description Immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography.
Mondo Term and Equivalent IDs
MONDO:0009306:  combined immunodeficiency with skin granulomas
MESH:C567115: 
Orphanet:157949: 
UMLS:C2673536: