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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 DNA:mutations:multiple:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities		 OMIM
CTD
ClinVar
RGD		 PMID:8627722 PMID:9536098 PMID:9889202 PMID:12916015 PMID:15102079 More... RGD:1559268, RGD:13432090 NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		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 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		JBrowse link
G She src homology 2 domain-containing transforming protein E ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 3:89,738,667...89,766,149
Ensembl chr 3:89,738,677...89,766,141 		JBrowse link
G Ube2q1 ubiquitin-conjugating enzyme E2Q family member 1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 3:89,680,905...89,691,304
Ensembl chr 3:89,680,923...89,691,307 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    sensory system disease 6768
      skin disease 3834
        pigmentation disease 258
          dyschromatosis symmetrica hereditaria 5
Path 2
Term Annotations click to browse term
  disease 16109
    Pathological Conditions, Signs and Symptoms 12370
      Signs and Symptoms 10145
        Neurologic Manifestations 9802
          sensory system disease 6768
            skin disease 3834
              pigmentation disease 258
                dyschromatosis symmetrica hereditaria 5
paths to the root