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- Be9810fdc1a56dc3b1be5f287767f7ee5 hasDbXref "NCIT:C114768" @default.
- Be9810fdc1a56dc3b1be5f287767f7ee5 type Axiom @default.
- Be9810fdc1a56dc3b1be5f287767f7ee5 annotatedProperty IAO_0000115 @default.
- Be9810fdc1a56dc3b1be5f287767f7ee5 annotatedSource MONDO_0012427 @default.
- Be9810fdc1a56dc3b1be5f287767f7ee5 annotatedTarget "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.