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- NCIT_C114768 IAO_0000115 "A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2." @default.
- NCIT_C114768 NCIT_A13 NCIT_C18592 @default.
- NCIT_C114768 NCIT_NHC0 "C114768" @default.
- NCIT_C114768 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C114768 NCIT_P108 "Loeys-Dietz Syndrome Type 2" @default.
- NCIT_C114768 NCIT_P207 "C2931058" @default.
- NCIT_C114768 NCIT_P322 "Cellosaurus" @default.
- NCIT_C114768 NCIT_P366 "Marfan_Syndrome_Type_II" @default.
- NCIT_C114768 NCIT_R176 NCIT_C16612 @default.
- NCIT_C114768 NCIT_R176 NCIT_C18592 @default.
- NCIT_C114768 NCIT_R176 NCIT_C20103 @default.
- NCIT_C114768 NCIT_R176 NCIT_C21281 @default.
- NCIT_C114768 NCIT_R176 NCIT_C21295 @default.
- NCIT_C114768 NCIT_R176 NCIT_C21364 @default.
- NCIT_C114768 NCIT_R176 NCIT_C25870 @default.
- NCIT_C114768 NCIT_R176 NCIT_C25871 @default.
- NCIT_C114768 NCIT_R176 NCIT_C25872 @default.
- NCIT_C114768 NCIT_R176 NCIT_C25873 @default.
- NCIT_C114768 normalizedInformationContent "100" @default.
- NCIT_C114768 referenceCount "1" @default.
- NCIT_C114768 hasExactSynonym "Loeys-Dietz Syndrome Type 2" @default.
- NCIT_C114768 hasExactSynonym "Loeys-Dietz Syndrome Type II" @default.
- NCIT_C114768 hasExactSynonym "Marfan Syndrome Type 2" @default.
- NCIT_C114768 hasExactSynonym "Marfan Syndrome Type II" @default.
- NCIT_C114768 inSubset NCIT_C165258 @default.
- NCIT_C114768 inSubset NCIT_C192842 @default.
- NCIT_C114768 type Class @default.
- NCIT_C114768 isDefinedBy ncit.owl @default.
- NCIT_C114768 label "Loeys-Dietz Syndrome Type 2" @default.
- NCIT_C114768 subClassOf Bb96e0fd36f9904ad4430a03372acadf0 @default.
- NCIT_C114768 subClassOf Be9878f0fee418c4678b3e9983a2a207d @default.
- NCIT_C114768 subClassOf NCIT_C114768 @default.
- NCIT_C114768 subClassOf NCIT_C28193 @default.
- NCIT_C114768 subClassOf NCIT_C2991 @default.
- NCIT_C114768 subClassOf NCIT_C4873 @default.
- NCIT_C114768 subClassOf NCIT_C53529 @default.
- NCIT_C114768 subClassOf NCIT_C53543 @default.
- NCIT_C114768 subClassOf NCIT_C53547 @default.
- NCIT_C114768 subClassOf NCIT_C7057 @default.
- NCIT_C114768 subClassOf NCIT_C75006 @default.