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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   Dowling-Degos-Kitamura disease;   RPK;   acropigmentatio reticularis;   dark dot disease;   reticular pigment anomaly of flexures
 primary_id: MESH:C562924
 xref: GARD:9775;   OMIM:PS179850;   ORDO:79145
For additional species annotation, visit the Alliance of Genome Resources.


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Dowling-Degos disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
G Pofut1 protein O-fucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:141,708,618...141,735,558
Ensembl chr 3:141,708,644...141,734,786 		JBrowse link
G Poglut1 protein O-glucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:62,198,600...62,226,446
Ensembl chr11:62,198,513...62,226,434 		JBrowse link
Dowling-Degos Disease 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Dowling-Degos disease 1 ClinVar
OMIM		 PMID:3188604 PMID:14674915 PMID:16465624 PMID:20222933 PMID:25741868 NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
Dowling-Degos Disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pofut1 protein O-fucosyltransferase 1 ISO ClinVar Annotator: match by term: Dowling-Degos disease 2 OMIM
ClinVar		 PMID:23684010 PMID:25229252 PMID:25741868 PMID:28492532 PMID:31566882 NCBI chr 3:141,708,618...141,735,558
Ensembl chr 3:141,708,644...141,734,786 		JBrowse link
Dowling-Degos Disease 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poglut1 protein O-glucosyltransferase 1 ISO ClinVar Annotator: match by term: Dowling-Degos disease 4 OMIM
ClinVar		 PMID:20664185 PMID:21971768 PMID:24387993 PMID:25741868 PMID:28492532 NCBI chr11:62,198,600...62,226,446
Ensembl chr11:62,198,513...62,226,434 		JBrowse link
reticulate acropigmentation of Kitamura term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura OMIM
ClinVar		 PMID:23666529 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    sensory system disease 6435
      skin disease 3794
        Genetic Skin Diseases 1568
          Dowling-Degos disease 4
            Dowling-Degos Disease 1 1
            Dowling-Degos Disease 2 1
            Dowling-Degos Disease 3 0
            Dowling-Degos Disease 4 1
            reticulate acropigmentation of Kitamura 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        sensory system disease 6435
          skin disease 3794
            pigmentation disease 450
              Hyperpigmentation 50
                Dowling-Degos disease 4
                  Dowling-Degos Disease 1 1
                  Dowling-Degos Disease 2 1
                  Dowling-Degos Disease 3 0
                  Dowling-Degos Disease 4 1
                  reticulate acropigmentation of Kitamura 1
paths to the root