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- NCIT_C75006 IAO_0000115 "A genetically heterogenous syndrome characterized by vascular abnormalities including aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries. Other findings include scoliosis, long fingers, and joint hypermobility. Patients with TGFBR1 gene mutations also exhibit hypertelorism, bifid uvula, and early fusion of the skull bones." @default.
- NCIT_C75006 NCIT_NHC0 "C75006" @default.
- NCIT_C75006 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C75006 NCIT_P108 "Loeys-Dietz Syndrome" @default.
- NCIT_C75006 NCIT_P207 "C2697932" @default.
- NCIT_C75006 NCIT_P322 "ACC/AHA" @default.
- NCIT_C75006 NCIT_P325 "A genetic syndrome characterized by a rare autosomal dominant syndrome caused by mutations in the TGFBR1 or TGFBR2 genes. It is characterized by aortic dilation and dissection, vascular tortuosity, hypertelorism, bifid uvula, scoliosis, and pectus deformities." @default.
- NCIT_C75006 NCIT_P366 "Loeys_Dietz_Syndrome" @default.
- NCIT_C75006 normalizedInformationContent "89.350088392419622" @default.
- NCIT_C75006 referenceCount "5" @default.
- NCIT_C75006 hasExactSynonym "Loeys-Dietz Syndrome" @default.
- NCIT_C75006 hasExactSynonym "Loeys-Dietz syndrome" @default.
- NCIT_C75006 inSubset NCIT_C167409 @default.
- NCIT_C75006 type Class @default.
- NCIT_C75006 isDefinedBy ncit.owl @default.
- NCIT_C75006 label "Loeys-Dietz Syndrome" @default.
- NCIT_C75006 subClassOf NCIT_C28193 @default.
- NCIT_C75006 subClassOf NCIT_C2991 @default.
- NCIT_C75006 subClassOf NCIT_C4873 @default.
- NCIT_C75006 subClassOf NCIT_C53529 @default.
- NCIT_C75006 subClassOf NCIT_C53543 @default.
- NCIT_C75006 subClassOf NCIT_C53547 @default.
- NCIT_C75006 subClassOf NCIT_C7057 @default.
- NCIT_C75006 subClassOf NCIT_C75006 @default.