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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:dyschromatosis universalis hereditaria
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Accession:DOID:0060304 term browser browse the term
Definition:A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. (DO)
Synonyms:primary_id: MESH:C535730
 xref: GARD:1996;   NCI:C173131;   OMIM:PS127500;   ORDO:241


show annotations for term's descendants           Sort by:
Dyschromatosis Universalis Hereditaria 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sash1 SAM and SH3 domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 1		 OMIM
CTD
ClinVar		 PMID:12190883 PMID:15150790 PMID:23333244 PMID:25741868 PMID:26203640 More... NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870 		JBrowse link
Dyschromatosis Universalis Hereditaria 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2998465 PMID:15142123 PMID:23180570 PMID:23519333 PMID:24224009 More... NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      skin disease 3960
        pigmentation disease 277
          dyschromatosis universalis hereditaria 2
            Dyschromatosis Universalis Hereditaria 1 1
            Dyschromatosis Universalis Hereditaria 2 0
            Dyschromatosis Universalis Hereditaria 3 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Genetic Skin Diseases 1850
                dyschromatosis universalis hereditaria 2
                  Dyschromatosis Universalis Hereditaria 1 1
                  Dyschromatosis Universalis Hereditaria 2 0
                  Dyschromatosis Universalis Hereditaria 3 1
paths to the root