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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
For additional species annotation, visit the Alliance of Genome Resources.


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dyschromatosis universalis hereditaria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISS OMIM:127500 | OMIM:612715 | OMIM:615402 MouseDO NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Sash1 SAM and SH3 domain containing 1 ISS OMIM:127500 | OMIM:612715 | OMIM:615402 MouseDO NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870
JBrowse link
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 ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 1 OMIM
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 OMIM:615402 OMIM
ClinVar
PMID:23519333 PMID:24224009 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 17205
    sensory system disease 5611
      skin disease 2954
        pigmentation disease 221
          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 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          skin disease 2954
            pigmentation disease 221
              dyschromatosis universalis hereditaria 2
                Dyschromatosis Universalis Hereditaria 1 1
                Dyschromatosis Universalis Hereditaria 2 0
                Dyschromatosis Universalis Hereditaria 3 1
paths to the root