arterial tortuosity syndrome

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Information
Disease name
arterial tortuosity syndrome
Disease ID
DOID:0050645
Description
"A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta." [url:http\://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome, url:http\://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT03440697 Recruiting Pathogenetic Basis of Aortopathy and Aortic Valve Disease December 10, 2015 December 31, 2030
Disase is a (Disease Ontology)
DOID:65
Cross Reference ID (Disease Ontology)
GARD:774
Cross Reference ID (Disease Ontology)
MESH:C565942
Cross Reference ID (Disease Ontology)
MIM:208050
OrphaNumber from OrphaNet (Orphanet)
3342