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- NCIT_C176703 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is characterized by a heterogenous phenotype, including recurrent respiratory infections, lymphoproliferation, and antibody deficiency. There is an increased likelihood of development of B-cell lymphoma." @default.
- NCIT_C176703 NCIT_NHC0 "C176703" @default.
- NCIT_C176703 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C176703 NCIT_P108 "PIK3R1-Associated Immunodeficiency" @default.
- NCIT_C176703 NCIT_P207 "C4014934" @default.
- NCIT_C176703 NCIT_P322 "Cellosaurus" @default.
- NCIT_C176703 NCIT_R176 NCIT_C16612 @default.
- NCIT_C176703 NCIT_R176 NCIT_C20194 @default.
- NCIT_C176703 NCIT_R176 NCIT_C97733 @default.
- NCIT_C176703 normalizedInformationContent "100" @default.
- NCIT_C176703 referenceCount "1" @default.
- NCIT_C176703 hasExactSynonym "APDS2" @default.
- NCIT_C176703 hasExactSynonym "Activated PI3K-Delta Syndrome 2" @default.
- NCIT_C176703 hasExactSynonym "IMD36" @default.
- NCIT_C176703 hasExactSynonym "Immunodeficiency 36" @default.
- NCIT_C176703 hasExactSynonym "PIK3R1-Associated Immunodeficiency" @default.
- NCIT_C176703 inSubset NCIT_C165258 @default.
- NCIT_C176703 inSubset NCIT_C192842 @default.
- NCIT_C176703 type Class @default.
- NCIT_C176703 isDefinedBy ncit.owl @default.
- NCIT_C176703 label "PIK3R1-Associated Immunodeficiency" @default.
- NCIT_C176703 subClassOf Bcdc737ef2065a5bada138596a00f06fb @default.
- NCIT_C176703 subClassOf Bf92e5d02f9239a0a648961e5fc4b9d38 @default.
- NCIT_C176703 subClassOf NCIT_C176703 @default.
- NCIT_C176703 subClassOf NCIT_C27351 @default.
- NCIT_C176703 subClassOf NCIT_C27551 @default.
- NCIT_C176703 subClassOf NCIT_C28193 @default.
- NCIT_C176703 subClassOf NCIT_C2991 @default.
- NCIT_C176703 subClassOf NCIT_C3131 @default.
- NCIT_C176703 subClassOf NCIT_C3507 @default.
- NCIT_C176703 subClassOf NCIT_C7057 @default.