Immunodeficiency 49

Definition

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.

Also known as BCL11B primary immunodeficiency disease, IMD49, immunodeficiency 49; IMD49, immunodeficiency type 49, primary immunodeficiency disease caused by mutation in BCL11B — per MONDO

Also identified as

• DOID 0111979 per MONDO
• OMIM 617237 per MONDO
• UMLS C4310656 per MONDO