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- NCIT_C176631 IAO_0000115 "A deficiency caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is associated with autosomal recessive agammaglobulinemia 7, immunodeficiency 36 and SHORT (short stature, hyperextensibility of joints or hernia, ocular depression, Rieger anomaly, teething delay) syndrome." @default.
- NCIT_C176631 NCIT_A13 NCIT_C97733 @default.
- NCIT_C176631 NCIT_NHC0 "C176631" @default.
- NCIT_C176631 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C176631 NCIT_P108 "PIK3R1 Deficiency" @default.
- NCIT_C176631 NCIT_P208 "CL1642634" @default.
- NCIT_C176631 NCIT_R176 NCIT_C16612 @default.
- NCIT_C176631 NCIT_R176 NCIT_C20194 @default.
- NCIT_C176631 NCIT_R176 NCIT_C97733 @default.
- NCIT_C176631 normalizedInformationContent "100" @default.
- NCIT_C176631 referenceCount "1" @default.
- NCIT_C176631 hasExactSynonym "PIK3R1 Deficiency" @default.
- NCIT_C176631 type Class @default.
- NCIT_C176631 isDefinedBy ncit.owl @default.
- NCIT_C176631 label "PIK3R1 Deficiency" @default.
- NCIT_C176631 subClassOf B6cdc91cdd38e8dd3317e02d204df0704 @default.
- NCIT_C176631 subClassOf Bc355e64f4bd8d58b332558233ac45016 @default.
- NCIT_C176631 subClassOf NCIT_C176631 @default.
- NCIT_C176631 subClassOf NCIT_C2991 @default.
- NCIT_C176631 subClassOf NCIT_C4873 @default.
- NCIT_C176631 subClassOf NCIT_C53529 @default.
- NCIT_C176631 subClassOf NCIT_C53543 @default.
- NCIT_C176631 subClassOf NCIT_C53547 @default.
- NCIT_C176631 subClassOf NCIT_C7057 @default.