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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
 xref: MESH:C535729;   MIM:127400;   MONDO:0007483;   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
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:		 ClinVar
CTD
OMIM
RGD		 PMID:8627722 PMID:9536098 PMID:9889202 PMID:12916015 PMID:15102079 More... RGD:1559268, RGD:13432090 NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:177,699,717...177,704,620
Ensembl chr 2:175,403,263...175,406,815 		JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:177,676,205...177,699,575
Ensembl chr 2:175,378,517...175,401,883 		JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,507,628...175,510,662
Ensembl chr 2:175,507,628...175,510,662 		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 2:177,479,091...177,487,306
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:178,007,233...178,017,397
Ensembl chr 2:175,709,644...175,719,763 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426 		JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:177,731,918...177,735,670
Ensembl chr 2:175,434,238...175,437,714 		JBrowse link
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:177,983,033...177,987,250
Ensembl chr 2:175,684,993...175,690,108 		JBrowse link
G Ns5atp4 NS5A transactivated protein 4 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,494,406...175,507,281
Ensembl chr 2:175,494,304...175,510,663 		JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:177,972,535...177,977,679
Ensembl chr 2:175,675,005...175,680,036 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:177,963,499...177,964,708
Ensembl chr 2:175,665,853...175,666,964
Ensembl chr12:175,665,853...175,666,964 		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 2:177,559,636...177,585,485
Ensembl chr 2:175,262,442...175,286,669 		JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:178,001,052...178,006,689
Ensembl chr 2:175,703,441...175,709,058 		JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:177,812,534...177,842,661
Ensembl chr 2:175,517,226...175,545,013 		JBrowse link
G Ubap2l ubiquitin associated protein 2-like ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:28492532 NCBI chr 2:177,736,378...177,791,746
Ensembl chr 2:175,438,703...175,493,998 		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 2:177,496,480...177,505,631
Ensembl chr 2:175,198,873...175,207,942 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7383
      skin disease 4322
        pigmentation disease 312
          dyschromatosis symmetrica hereditaria 21
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Signs and Symptoms 11221
        Neurologic Manifestations 10463
          sensory system disease 7383
            skin disease 4322
              pigmentation disease 312
                dyschromatosis symmetrica hereditaria 21
paths to the root