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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;   MIM:PS179850;   ORDO:79145


show annotations for term's descendants           Sort by:
Dowling-Degos disease term browser
Symbol Object Name Qualifiers 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 8:80,226,862...80,358,728
Ensembl chr 8:80,226,674...80,361,600 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:134,724,840...134,730,569
Ensembl chr 7:134,724,840...134,730,569 		JBrowse link
G Pofut1 protein O-fucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:162,168,855...162,195,798
Ensembl chr 3:162,168,606...162,195,018 		JBrowse link
G Poglut1 protein O-glucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:75,704,119...75,731,964
Ensembl chr11:75,703,833...75,733,519 		JBrowse link
Dowling-Degos Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt5 keratin 5 ISO ClinVar Annotator: match by term: Dowling-Degos disease 1 OMIM
ClinVar		 PMID:3188604 PMID:7506097 PMID:7520042 PMID:8807337 PMID:14674915 More... NCBI chr 7:134,724,840...134,730,569
Ensembl chr 7:134,724,840...134,730,569 		JBrowse link
Dowling-Degos Disease 2 term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: POFUT1-related condition OMIM
ClinVar		 PMID:23684010 PMID:25157627 PMID:25229252 PMID:25741868 PMID:28492532 More... NCBI chr 3:162,168,855...162,195,798
Ensembl chr 3:162,168,606...162,195,018 		JBrowse link
Dowling-Degos Disease 4 term browser
Symbol Object Name Qualifiers 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:21270786 PMID:21971768 PMID:24387993 PMID:25741868 More... NCBI chr11:75,704,119...75,731,964
Ensembl chr11:75,703,833...75,733,519 		JBrowse link
reticulate acropigmentation of Kitamura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 susceptibility ISO ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura ClinVar
OMIM		 PMID:23666529 PMID:25741868 PMID:28492532 NCBI chr 8:80,226,862...80,358,728
Ensembl chr 8:80,226,674...80,361,600 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      skin disease 4336
        Genetic Skin Diseases 1865
          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 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              pigmentation disease 333
                Hyperpigmentation 51
                  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