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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 symmetrica hereditaria
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Accession:DOID:0060257 term browser browse the term
Definition:A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. (DO)
Synonyms:exact_synonym: DSH;   DSH1;   Dyschromatosis Symmetrica Hereditaria 1;   Familial reticulate acropigmentation of Dohi;   RAD;   reticulate acropigmentation of Dohi;   symmetric dyschromatosis of the extremities;   symmetrical dyschromatosis of extremities
 primary_id: MESH:C535729
 alt_id: OMIM:127400
 xref: NCI:C118435;   ORDO:41



show annotations for term's descendants           Sort by:
dyschromatosis symmetrica hereditaria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities OMIM
ClinVar
PMID:8627722 PMID:9536098 PMID:9889202 PMID:12916015 PMID:15102079 More... NCBI chr 1:129,937,993...129,983,747 JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 1:129,922,740...129,931,582
Ensembl chr 1:133,535,023...133,547,361
JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
JBrowse link
G SHE Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 1:129,834,422...129,857,317
Ensembl chr 1:133,446,417...133,469,841
JBrowse link
G TDRD10 tudor domain containing 10 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 1:129,857,124...129,903,134
Ensembl chr 1:133,469,613...133,515,193
JBrowse link
G UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 1:129,904,971...129,913,640
Ensembl chr 1:133,515,618...133,525,390
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    sensory system disease 6622
      skin disease 3768
        pigmentation disease 252
          dyschromatosis symmetrica hereditaria 6
Path 2
Term Annotations click to browse term
  disease 18006
    Pathological Conditions, Signs and Symptoms 12014
      Signs and Symptoms 9951
        Neurologic Manifestations 9630
          sensory system disease 6622
            skin disease 3768
              pigmentation disease 252
                dyschromatosis symmetrica hereditaria 6
paths to the root