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- NCIT_C176906 IAO_0000115 "An inherited condition caused by autosomal dominant mutation(s) in the KIT or PDGFRA genes, encoding mast/stem cell growth factor receptor Kit and platelet derived growth factor receptor alpha respectively. The condition is characterized by the occurrence of multiple gastrointestinal stromal tumors (GIST)." @default.
- NCIT_C176906 NCIT_A13 NCIT_C18609 @default.
- NCIT_C176906 NCIT_A13 NCIT_C24666 @default.
- NCIT_C176906 NCIT_NHC0 "C176906" @default.
- NCIT_C176906 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C176906 NCIT_P108 "Hereditary Gastrointestinal Stromal Tumor" @default.
- NCIT_C176906 NCIT_P208 "CL1642916" @default.
- NCIT_C176906 NCIT_P322 "CCPS" @default.
- NCIT_C176906 NCIT_R108 NCIT_C3367 @default.
- NCIT_C176906 NCIT_R108 NCIT_C3824 @default.
- NCIT_C176906 NCIT_R108 NCIT_C54062 @default.
- NCIT_C176906 NCIT_R108 NCIT_C7057 @default.
- NCIT_C176906 normalizedInformationContent "100" @default.
- NCIT_C176906 referenceCount "1" @default.
- NCIT_C176906 hasExactSynonym "Familial GIST Syndrome" @default.
- NCIT_C176906 hasExactSynonym "Familial GIST" @default.
- NCIT_C176906 hasExactSynonym "Familial Gastrointestinal Stromal Tumor" @default.
- NCIT_C176906 hasExactSynonym "Hereditary Gastrointestinal Stromal Tumor" @default.
- NCIT_C176906 inSubset NCIT_C177281 @default.
- NCIT_C176906 inSubset NCIT_C177516 @default.
- NCIT_C176906 type Class @default.
- NCIT_C176906 isDefinedBy ncit.owl @default.
- NCIT_C176906 label "Hereditary Gastrointestinal Stromal Tumor" @default.
- NCIT_C176906 subClassOf B384546f163d9aeba122740a49f8b97be @default.
- NCIT_C176906 subClassOf Beb4f63e6c8258de71023589d59820785 @default.
- NCIT_C176906 subClassOf NCIT_C176906 @default.
- NCIT_C176906 subClassOf NCIT_C28193 @default.
- NCIT_C176906 subClassOf NCIT_C2991 @default.
- NCIT_C176906 subClassOf NCIT_C3101 @default.
- NCIT_C176906 subClassOf NCIT_C3266 @default.
- NCIT_C176906 subClassOf NCIT_C54705 @default.
- NCIT_C176906 subClassOf NCIT_C7057 @default.