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- NCIT_C187988 IAO_0000115 "An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by defects in T-cells and B-cells and recurrent sinopulmonary infections in childhood." @default.
- NCIT_C187988 NCIT_NHC0 "C187988" @default.
- NCIT_C187988 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C187988 NCIT_P108 "Immunodeficiency 14A, Autosomal Dominant" @default.
- NCIT_C187988 NCIT_P208 "CL1792888" @default.
- NCIT_C187988 NCIT_P322 "Cellosaurus" @default.
- NCIT_C187988 NCIT_R176 NCIT_C113628 @default.
- NCIT_C187988 NCIT_R176 NCIT_C16612 @default.
- NCIT_C187988 NCIT_R176 NCIT_C21281 @default.
- NCIT_C187988 NCIT_R176 NCIT_C25870 @default.
- NCIT_C187988 NCIT_R176 NCIT_C25871 @default.
- NCIT_C187988 NCIT_R176 NCIT_C25872 @default.
- NCIT_C187988 NCIT_R176 NCIT_C26072 @default.
- NCIT_C187988 normalizedInformationContent "100" @default.
- NCIT_C187988 referenceCount "1" @default.
- NCIT_C187988 hasExactSynonym "APDS" @default.
- NCIT_C187988 hasExactSynonym "Activated PI3K-delta Syndrome" @default.
- NCIT_C187988 hasExactSynonym "IMD14A" @default.
- NCIT_C187988 hasExactSynonym "Immunodeficiency 14" @default.
- NCIT_C187988 hasExactSynonym "Immunodeficiency 14A, Autosomal Dominant" @default.
- NCIT_C187988 inSubset NCIT_C165258 @default.
- NCIT_C187988 inSubset NCIT_C192842 @default.
- NCIT_C187988 type Class @default.
- NCIT_C187988 isDefinedBy ncit.owl @default.
- NCIT_C187988 label "Immunodeficiency 14A, Autosomal Dominant" @default.
- NCIT_C187988 subClassOf B809041c6b6a2cfafb17c769ffc3b6cb2 @default.
- NCIT_C187988 subClassOf B99ec85a3101f0ea2e21d464fd3160fb1 @default.
- NCIT_C187988 subClassOf NCIT_C187988 @default.
- NCIT_C187988 subClassOf NCIT_C27351 @default.
- NCIT_C187988 subClassOf NCIT_C27551 @default.
- NCIT_C187988 subClassOf NCIT_C28193 @default.
- NCIT_C187988 subClassOf NCIT_C2991 @default.
- NCIT_C187988 subClassOf NCIT_C3131 @default.
- NCIT_C187988 subClassOf NCIT_C3507 @default.
- NCIT_C187988 subClassOf NCIT_C7057 @default.