Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B0410cb34e7aa431172bc8445532a46aa> ?p ?o ?g. }
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- B0410cb34e7aa431172bc8445532a46aa hasDbXref "Orphanet:91387" @default.
- B0410cb34e7aa431172bc8445532a46aa type Axiom @default.
- B0410cb34e7aa431172bc8445532a46aa annotatedProperty IAO_0000115 @default.
- B0410cb34e7aa431172bc8445532a46aa annotatedSource MONDO_0019625 @default.
- B0410cb34e7aa431172bc8445532a46aa annotatedTarget "A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture." @default.