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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant type IV Ehlers-Danlos syndrome
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Accession:DOID:14756 term browser browse the term
Definition:An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32. (DO)
Synonyms:exact_synonym: EDSVASC;   Ehlers Danlos Syndrome, arterial type;   Ehlers Danlos syndrome, Ecchymotic type;   Ehlers Danlos syndrome, Sack Barabas type;   Ehlers Danlos syndrome, vascular type
 primary_id: OMIM:130050
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autosomal dominant type IV Ehlers-Danlos syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:7240710
RGD:8554872
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      Ehlers-Danlos syndrome 104
        Ehlers-Danlos Syndrome Type 4 4
          autosomal dominant type IV Ehlers-Danlos syndrome 1
            Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      Hemic and Lymphatic Diseases 1996
        hematopoietic system disease 1595
          blood coagulation disease 603
            hemorrhagic disease 590
              vascular hemostatic disease 297
                Ehlers-Danlos syndrome 104
                  Ehlers-Danlos Syndrome Type 4 4
                    autosomal dominant type IV Ehlers-Danlos syndrome 1
                      Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.