ONTOLOGY REPORT - ANNOTATIONS


Term:Port-Wine Stain
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Accession:DOID:9001616 term browser browse the term
Definition:A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema. In the past, port wine stains have frequently been termed capillary hemangiomas, which they are not; unfortunately this confusing practice persists: HEMANGIOMA, CAPILLARY is neoplastic, a port-wine stain is non-neoplastic. Port-wine stains vary in color from fairly pale pink to deep red or purple and in size from a few millimeters to many centimeters in diameter. The face is the most frequently affected site and they are most often unilateral. (From Rook et al., Textbook of Dermatology, 5th ed, p483)
Synonyms:exact_synonym: Nevus Flammeus;   Port-Wine Stains
 primary_id: MESH:D019339;   RDO:0001132
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Port-Wine Stain term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnaq G protein subunit alpha q JBrowse link 1 233,382,778 233,622,584 RGD:11554173
RGD:8554872
G Rasa1 RAS p21 protein activator 1 JBrowse link 2 13,617,021 13,696,531 RGD:734495
RGD:11554173
Capillary Malformation-Arteriovenous Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnh cyclin H JBrowse link 2 13,593,100 13,613,910 RGD:8554872
G Rasa1 RAS p21 protein activator 1 JBrowse link 2 13,617,021 13,696,531 RGD:8554872
RGD:11554173
RGD:734495
G Stambp Stam binding protein JBrowse link 4 115,249,343 115,277,340 RGD:11554173
Capillary Malformation-Arteriovenous Malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rasa1 RAS p21 protein activator 1 JBrowse link 2 13,617,021 13,696,531 RGD:7240710
Capillary Malformation-Arteriovenous Malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ephb4 EPH receptor B4 JBrowse link 12 22,393,338 22,418,332 RGD:8554872
RGD:7240710
G Slc12a9 solute carrier family 12, member 9 JBrowse link 12 22,434,845 22,451,265 RGD:8554872
Congenital Capillary Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnaq G protein subunit alpha q JBrowse link 1 233,382,778 233,622,584 RGD:8554872
RGD:7240710
Familial Multiple Nevi Flammei term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnaq G protein subunit alpha q JBrowse link 1 233,382,778 233,622,584 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        Skin Abnormalities 344
          Port-Wine Stain 6
            Capillary Malformation-Arteriovenous Malformation + 5
            Congenital Capillary Malformations + 1
            Familial Multiple Nevi Flammei 1
            stork bite 0
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Skin Abnormalities 344
              Port-Wine Stain 6
                Capillary Malformation-Arteriovenous Malformation + 5
                Congenital Capillary Malformations + 1
                Familial Multiple Nevi Flammei 1
                stork bite 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.