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- NCIT_C75119 IAO_0000115 "A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones." @default.
- NCIT_C75119 NCIT_NHC0 "C75119" @default.
- NCIT_C75119 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C75119 NCIT_P108 "Loeys-Dietz Syndrome Type 1" @default.
- NCIT_C75119 NCIT_P207 "C2697933" @default.
- NCIT_C75119 NCIT_P322 "Cellosaurus" @default.
- NCIT_C75119 NCIT_P366 "Loeys_Dietz_Syndrome_Type_1" @default.
- NCIT_C75119 NCIT_R176 NCIT_C16612 @default.
- NCIT_C75119 NCIT_R176 NCIT_C20103 @default.
- NCIT_C75119 NCIT_R176 NCIT_C21281 @default.
- NCIT_C75119 NCIT_R176 NCIT_C21295 @default.
- NCIT_C75119 NCIT_R176 NCIT_C21364 @default.
- NCIT_C75119 NCIT_R176 NCIT_C24859 @default.
- NCIT_C75119 NCIT_R176 NCIT_C25870 @default.
- NCIT_C75119 NCIT_R176 NCIT_C25871 @default.
- NCIT_C75119 NCIT_R176 NCIT_C25872 @default.
- NCIT_C75119 NCIT_R176 NCIT_C25873 @default.
- NCIT_C75119 normalizedInformationContent "100" @default.
- NCIT_C75119 referenceCount "1" @default.
- NCIT_C75119 hasExactSynonym "Loeys-Dietz Syndrome Type 1" @default.
- NCIT_C75119 inSubset NCIT_C165258 @default.
- NCIT_C75119 inSubset NCIT_C192842 @default.
- NCIT_C75119 type Class @default.
- NCIT_C75119 isDefinedBy ncit.owl @default.
- NCIT_C75119 label "Loeys-Dietz Syndrome Type 1" @default.
- NCIT_C75119 subClassOf B33e4f1a7bebd057ece296a24c36b4d55 @default.
- NCIT_C75119 subClassOf Bd06ad508988766687ebb71b6d1ae313f @default.
- NCIT_C75119 subClassOf NCIT_C28193 @default.
- NCIT_C75119 subClassOf NCIT_C2991 @default.
- NCIT_C75119 subClassOf NCIT_C4873 @default.
- NCIT_C75119 subClassOf NCIT_C53529 @default.
- NCIT_C75119 subClassOf NCIT_C53543 @default.
- NCIT_C75119 subClassOf NCIT_C53547 @default.
- NCIT_C75119 subClassOf NCIT_C7057 @default.
- NCIT_C75119 subClassOf NCIT_C75006 @default.
- NCIT_C75119 subClassOf NCIT_C75119 @default.