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- NCIT_C131686 IAO_0000115 "An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF causes decreased platelet adhesion due to a selective deficiency of high molecular weight multimers. The decrease in large multimers can be due to a failure to synthesize the multimers ('group 1') or enhanced ADAMTS13-mediated proteolysis of the secreted high molecular weight protein ('group 2')." @default.
- NCIT_C131686 NCIT_NHC0 "C131686" @default.
- NCIT_C131686 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131686 NCIT_P108 "von Willebrand Disease, Type 2A" @default.
- NCIT_C131686 NCIT_P207 "C1282968" @default.
- NCIT_C131686 NCIT_P322 "NICHD" @default.
- NCIT_C131686 NCIT_P325 "An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF causes decreased platelet adhesion due to a selective deficiency of high molecular weight multimers. The decrease in large multimers can be due to a failure to synthesize the multimers ('group 1') or enhanced ADAMTS13-mediated proteolysis of the secreted high molecular weight protein ('group 2')." @default.
- NCIT_C131686 NCIT_R100 NCIT_C12219 @default.
- NCIT_C131686 NCIT_R100 NCIT_C12919 @default.
- NCIT_C131686 NCIT_R100 NCIT_C41165 @default.
- NCIT_C131686 NCIT_R101 NCIT_C12219 @default.
- NCIT_C131686 NCIT_R101 NCIT_C12919 @default.
- NCIT_C131686 NCIT_R101 NCIT_C41165 @default.
- NCIT_C131686 NCIT_R103 NCIT_C12219 @default.
- NCIT_C131686 NCIT_R103 NCIT_C12801 @default.
- NCIT_C131686 NCIT_R103 NCIT_C41168 @default.
- NCIT_C131686 NCIT_R104 NCIT_C12219 @default.
- NCIT_C131686 NCIT_R104 NCIT_C12508 @default.
- NCIT_C131686 NCIT_R104 NCIT_C21599 @default.
- NCIT_C131686 NCIT_R104 NCIT_C32725 @default.
- NCIT_C131686 NCIT_R176 NCIT_C16612 @default.
- NCIT_C131686 NCIT_R176 NCIT_C21295 @default.
- NCIT_C131686 NCIT_R176 NCIT_C28480 @default.
- NCIT_C131686 NCIT_R176 NCIT_C28483 @default.
- NCIT_C131686 normalizedInformationContent "100" @default.
- NCIT_C131686 referenceCount "1" @default.
- NCIT_C131686 hasExactSynonym "von Willebrand Disease, Type 2A" @default.
- NCIT_C131686 inSubset NCIT_C132009 @default.
- NCIT_C131686 inSubset NCIT_C90259 @default.
- NCIT_C131686 type Class @default.
- NCIT_C131686 isDefinedBy ncit.owl @default.
- NCIT_C131686 label "von Willebrand Disease, Type 2A" @default.
- NCIT_C131686 subClassOf B95b7421772abe599bd9a09b5b7ade212 @default.
- NCIT_C131686 subClassOf Beacf4a9a23f852495c0dba394ff2a7c1 @default.
- NCIT_C131686 subClassOf NCIT_C131686 @default.
- NCIT_C131686 subClassOf NCIT_C26323 @default.
- NCIT_C131686 subClassOf NCIT_C26324 @default.
- NCIT_C131686 subClassOf NCIT_C27551 @default.
- NCIT_C131686 subClassOf NCIT_C2902 @default.
- NCIT_C131686 subClassOf NCIT_C2991 @default.
- NCIT_C131686 subClassOf NCIT_C35814 @default.
- NCIT_C131686 subClassOf NCIT_C53529 @default.
- NCIT_C131686 subClassOf NCIT_C53531 @default.
- NCIT_C131686 subClassOf NCIT_C68677 @default.
- NCIT_C131686 subClassOf NCIT_C7057 @default.