ONTOLOGY REPORT - ANNOTATIONS


Term:Dowling-Degos disease
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Accession:DOID:0060256 term browser browse the term
Definition:A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. (DO)
Synonyms:exact_synonym: DDD;   DDD1;   Dowling-Degos disease 1;   Dowling-Degos-Kitamura disease;   RPK;   acropigmentatio reticularis;   dark dot disease;   reticular pigment anomaly of flexures
 primary_id: MESH:C562924
 alt_id: OMIM:179850;   RDO:0012431
 xref: GARD:9775;   OMIM:PS179850;   ORDO:79145
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Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 ADAM metallopeptidase domain 10 JBrowse link 8 77,107,355 77,237,483 RGD:11554173
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:7240710
RGD:8554872
G Pofut1 protein O-fucosyltransferase 1 JBrowse link 3 148,722,864 148,749,743 RGD:11554173
G Poglut1 protein O-glucosyltransferase 1 JBrowse link 11 64,761,493 64,788,210 RGD:11554173
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pofut1 protein O-fucosyltransferase 1 JBrowse link 3 148,722,864 148,749,743 RGD:7240710
RGD:8554872
Dowling-Degos Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poglut1 protein O-glucosyltransferase 1 JBrowse link 11 64,761,493 64,788,210 RGD:7240710
RGD:8554872
reticulate acropigmentation of Kitamura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 ADAM metallopeptidase domain 10 JBrowse link 8 77,107,355 77,237,483 RGD:7240710
RGD:8554872
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        Genetic Skin Diseases 580
          Dowling-Degos disease 4
            Dowling-Degos Disease 2 1
            Dowling-Degos Disease 3 0
            Dowling-Degos Disease 4 1
            reticulate acropigmentation of Kitamura 2
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
            pigmentation disease 212
              Hyperpigmentation 44
                Dowling-Degos disease 4
                  Dowling-Degos Disease 2 1
                  Dowling-Degos Disease 3 0
                  Dowling-Degos Disease 4 1
                  reticulate acropigmentation of Kitamura 2
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.