C220695Level 8
Activated Phosphatidylinositol-3-OH Kinase Delta Syndrome, Type 2
**Semantic type:** Disease or Syndrome
**Definition:** Activated phosphatidylinositol-3-OH kinase delta syndrome caused by activating mutations in PIK3R1 gene.
**Synonyms:** - APDS2 - Activated PI3K Delta Syndrome 2 - Activated PI3K-Delta Syndrome 2 - Immunodeficiency 36 - PIK3R1-Associated Immunodeficiency
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