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ONTOLOGY REPORT - ANNOTATIONS


Term:arterial tortuosity syndrome
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Accession:DOID:0050645 term browser browse the term
Definition:A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. (DO)
Synonyms:exact_synonym: ATS;   arterial tortuosity
 primary_id: MESH:C565942
 alt_id: OMIM:208050;   RDO:0014444
 xref: GARD:774
For additional species annotation, visit the Alliance of Genome Resources.


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arterial tortuosity syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin, alpha 2, smooth muscle, aorta JBrowse link 1 252,537,614 252,550,394 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:13592920
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:7240710
RGD:8554872

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  disease 14759
    syndrome 4210
      arterial tortuosity syndrome 4
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            Genetic Skin Diseases 576
              arterial tortuosity syndrome 4
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