General Information of Disease (ID: DIS3W5M5)

Disease Name Isolated agammaglobulinemia
Synonyms isolated hypogammaglobulinemia; nonsyndromic agammaglobulinemia
Definition
Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.
Disease Hierarchy
DISXMS80: Agammaglobulinemia
DIS3W5M5: Isolated agammaglobulinemia
Disease Identifiers
MONDO ID
MONDO_0016462
UMLS CUI
C4707181
MedGen ID
1639972
Orphanet ID
229717
SNOMED CT ID
764858009