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- NCIT_C84652 IAO_0000115 "A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms." @default.
- NCIT_C84652 NCIT_A13 NCIT_C17060 @default.
- NCIT_C84652 NCIT_NHC0 "C84652" @default.
- NCIT_C84652 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84652 NCIT_P108 "Costello Syndrome" @default.
- NCIT_C84652 NCIT_P207 "C0587248" @default.
- NCIT_C84652 NCIT_P322 "CCPS" @default.
- NCIT_C84652 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84652 NCIT_P322 "NICHD" @default.
- NCIT_C84652 NCIT_P322 "PCDC" @default.
- NCIT_C84652 NCIT_P325 "An autosomal dominant syndrome caused by mutations in the HRAS gene, encoding GTPase HRas, a signaling molecule involved in control of cell growth and division. The condition is characterized by coarse facial features, loose skin folds, developmental delays, hypotonia, multiple cardiac problems (structural heart anomalies, hypertrophic cardiomyopathy), short stature, hyperinsulinism, and an increased risk for development of neoplasia." @default.
- NCIT_C84652 NCIT_R116 NCIT_C107377 @default.
- NCIT_C84652 NCIT_R116 NCIT_C166354 @default.
- NCIT_C84652 NCIT_R116 NCIT_C166357 @default.
- NCIT_C84652 NCIT_R116 NCIT_C27551 @default.
- NCIT_C84652 NCIT_R116 NCIT_C27574 @default.
- NCIT_C84652 NCIT_R116 NCIT_C2991 @default.
- NCIT_C84652 NCIT_R116 NCIT_C3262 @default.
- NCIT_C84652 NCIT_R116 NCIT_C3263 @default.
- NCIT_C84652 NCIT_R116 NCIT_C3359 @default.
- NCIT_C84652 NCIT_R116 NCIT_C3810 @default.
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- NCIT_C84652 NCIT_R116 NCIT_C4741 @default.
- NCIT_C84652 NCIT_R116 NCIT_C4883 @default.
- NCIT_C84652 NCIT_R116 NCIT_C6514 @default.
- NCIT_C84652 NCIT_R116 NCIT_C6516 @default.
- NCIT_C84652 NCIT_R116 NCIT_C7057 @default.
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- NCIT_C84652 NCIT_R116 NCIT_C7201 @default.
- NCIT_C84652 NCIT_R116 NCIT_C9118 @default.
- NCIT_C84652 NCIT_R116 NCIT_C9305 @default.
- NCIT_C84652 NCIT_R116 NCIT_C9387 @default.
- NCIT_C84652 NCIT_R116 NCIT_C9415 @default.
- NCIT_C84652 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84652 NCIT_R176 NCIT_C17060 @default.
- NCIT_C84652 NCIT_R176 NCIT_C18437 @default.
- NCIT_C84652 NCIT_R176 NCIT_C20921 @default.
- NCIT_C84652 NCIT_R176 NCIT_C21281 @default.
- NCIT_C84652 NCIT_R176 NCIT_C25784 @default.
- NCIT_C84652 NCIT_R176 NCIT_C25804 @default.
- NCIT_C84652 normalizedInformationContent "92.730304365937428" @default.
- NCIT_C84652 referenceCount "3" @default.
- NCIT_C84652 hasExactSynonym "Costello Syndrome" @default.
- NCIT_C84652 inSubset NCIT_C118467 @default.
- NCIT_C84652 inSubset NCIT_C165258 @default.
- NCIT_C84652 inSubset NCIT_C177281 @default.
- NCIT_C84652 inSubset NCIT_C177516 @default.
- NCIT_C84652 inSubset NCIT_C186315 @default.
- NCIT_C84652 inSubset NCIT_C186341 @default.
- NCIT_C84652 inSubset NCIT_C192842 @default.
- NCIT_C84652 inSubset NCIT_C90259 @default.
- NCIT_C84652 type Class @default.
- NCIT_C84652 isDefinedBy ncit.owl @default.
- NCIT_C84652 label "Costello Syndrome" @default.
- NCIT_C84652 subClassOf NCIT_C179667 @default.
- NCIT_C84652 subClassOf NCIT_C28193 @default.
- NCIT_C84652 subClassOf NCIT_C2991 @default.
- NCIT_C84652 subClassOf NCIT_C3101 @default.
- NCIT_C84652 subClassOf NCIT_C35561 @default.
- NCIT_C84652 subClassOf NCIT_C4873 @default.
- NCIT_C84652 subClassOf NCIT_C54705 @default.
- NCIT_C84652 subClassOf NCIT_C7057 @default.
- NCIT_C84652 subClassOf NCIT_C84652 @default.
- NCIT_C84652 equivalentClass B4a12dd1bf5c5ce1c99c5ce09f5f171b1 @default.
- NCIT_C84652 equivalentClass B8e38322a0d91894a503f8adccf0e0081 @default.