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- NCIT_C178285 IAO_0000115 "A group of rare disorders that are usually caused by somatic mutations in the PIK3CA gene, but may rarely be caused by de novo germline mutations. These disorders are typically characterized by sporadic overgrowth of parts of the body, intellectual disability, low muscle tone, and vascular malformations with congenital or early childhood onset. Representative examples include: fibroadipose hyperplasia, CLOVES syndrome, megalencephaly-capillary malformation syndrome, hemihyperplasia-multiple lipomatosis syndrome, hemimegalencephaly, and facial infiltrating lipomatosis." @default.
- NCIT_C178285 NCIT_A13 NCIT_C21220 @default.
- NCIT_C178285 NCIT_NHC0 "C178285" @default.
- NCIT_C178285 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C178285 NCIT_P107 "PIK3CA-Related Overgrowth Spectrum" @default.
- NCIT_C178285 NCIT_P108 "PIK3CA-Related Overgrowth Spectrum" @default.
- NCIT_C178285 NCIT_P208 "CL556561" @default.
- NCIT_C178285 NCIT_P322 "CCPS" @default.
- NCIT_C178285 NCIT_P322 "CTRP" @default.
- NCIT_C178285 NCIT_R176 NCIT_C16612 @default.
- NCIT_C178285 NCIT_R176 NCIT_C21220 @default.
- NCIT_C178285 NCIT_R176 NCIT_C21281 @default.
- NCIT_C178285 NCIT_R176 NCIT_C25870 @default.
- NCIT_C178285 NCIT_R176 NCIT_C25871 @default.
- NCIT_C178285 NCIT_R176 NCIT_C25872 @default.
- NCIT_C178285 NCIT_R176 NCIT_C26072 @default.
- NCIT_C178285 normalizedInformationContent "92.730304365937428" @default.
- NCIT_C178285 referenceCount "3" @default.
- NCIT_C178285 hasExactSynonym "PIK3CA-Related Overgrowth Spectrum" @default.
- NCIT_C178285 hasExactSynonym "PROS" @default.
- NCIT_C178285 inSubset NCIT_C116977 @default.
- NCIT_C178285 inSubset NCIT_C118168 @default.
- NCIT_C178285 inSubset NCIT_C177281 @default.
- NCIT_C178285 inSubset NCIT_C177516 @default.
- NCIT_C178285 type Class @default.
- NCIT_C178285 isDefinedBy ncit.owl @default.
- NCIT_C178285 label "PIK3CA-Related Overgrowth Spectrum" @default.
- NCIT_C178285 subClassOf B11a70d78c83738afc1bdf81ad4982dd5 @default.
- NCIT_C178285 subClassOf Bb77c1f22d608789b57ba748f83c1fc54 @default.
- NCIT_C178285 subClassOf NCIT_C178285 @default.
- NCIT_C178285 subClassOf NCIT_C28193 @default.
- NCIT_C178285 subClassOf NCIT_C2991 @default.
- NCIT_C178285 subClassOf NCIT_C4873 @default.
- NCIT_C178285 subClassOf NCIT_C53529 @default.
- NCIT_C178285 subClassOf NCIT_C53543 @default.
- NCIT_C178285 subClassOf NCIT_C53547 @default.
- NCIT_C178285 subClassOf NCIT_C7057 @default.