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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

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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 N 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 chrNW_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693 		JBrowse link
G 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 chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329 		JBrowse link
G P 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 4:95,154,230...95,197,308
Ensembl chr 4:95,154,358...95,197,304 		JBrowse link
G S 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 chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435 		JBrowse link
G D 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 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999 		JBrowse link
G B 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 C 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 chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938 		JBrowse link
G R 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 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
G M 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 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		JBrowse link
G H ADAR adenosine deaminase RNA specific IAGP
EXP		 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 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G N Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chrNW_004624885:2,839,607...2,851,934
Ensembl chrNW_004624885:2,843,899...2,848,522 		JBrowse link
G G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr20:9,245,803...9,255,430
Ensembl chr20:9,247,231...9,253,795 		JBrowse link
G P CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 4:95,196,992...95,211,084
Ensembl chr 4:95,198,717...95,211,037 		JBrowse link
G S Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chrNW_004936580:4,165,255...4,179,285
Ensembl chrNW_004936580:4,166,619...4,186,443 		JBrowse link
G D CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 7:42,786,505...42,797,976
Ensembl chr 7:42,789,600...42,795,722 		JBrowse link
G B 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 C Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chrNW_004955545:1,065,457...1,077,056
Ensembl chrNW_004955545:1,065,457...1,077,526 		JBrowse link
G R Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
G M 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 H CHRNB2 cholinergic receptor nicotinic beta 2 subunit IAGP ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 1:154,567,778...154,580,013
Ensembl chr 1:154,567,778...154,580,013 		JBrowse link
G N Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chrNW_004624885:2,910,367...2,946,916
Ensembl chrNW_004624885:2,910,112...2,946,886 		JBrowse link
G G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr20:9,345,723...9,418,963
Ensembl chr20:9,361,152...9,396,610 		JBrowse link
G P IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282 		JBrowse link
G S Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chrNW_004936580:4,055,438...4,081,876
Ensembl chrNW_004936580:4,057,771...4,081,885 		JBrowse link
G D IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090 		JBrowse link
G B 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 C Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762 		JBrowse link
G R Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G H IL6R interleukin 6 receptor IAGP ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		JBrowse link
G M 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 H LOC126805874 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:154561176-154562375 IAGP ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:9536098 PMID:15102079 PMID:16917490 PMID:17576681 PMID:18705826 More... NCBI chr 1:154,588,700...154,589,899 JBrowse link
G H LOC129931512 ATAC-STARR-seq lymphoblastoid silent region 1364 IAGP ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29221912
G H LOC129931513 ATAC-STARR-seq lymphoblastoid active region 1780 IAGP ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar
G N She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chrNW_004624885:2,886,584...2,904,953 JBrowse link
G G SHE Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr20:9,324,123...9,358,509
Ensembl chr20:9,324,296...9,345,730 		JBrowse link
G P SHE Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 4:95,284,275...95,308,109
Ensembl chr 4:95,284,607...95,308,099 		JBrowse link
G S She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chrNW_004936580:4,095,218...4,109,961
Ensembl chrNW_004936580:4,095,234...4,109,964 		JBrowse link
G D SHE Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 7:42,853,116...42,869,293
Ensembl chr 7:42,853,083...42,867,858 		JBrowse link
G B 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 C She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chrNW_004955545:989,390...1,011,100
Ensembl chrNW_004955545:991,593...1,011,080 		JBrowse link
G R She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 2:175,262,431...175,287,807
Ensembl chr 2:175,262,442...175,286,669 		JBrowse link
G M 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 H SHE Src homology 2 domain containing E IAGP ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 1:154,469,637...154,502,412
Ensembl chr 1:154,469,772...154,502,412 		JBrowse link
G G TDRD10 tudor domain containing 10 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr20:9,275,380...9,323,531
Ensembl chr20:9,275,969...9,319,327 		JBrowse link
G P TDRD10 tudor domain containing 10 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 4:95,231,253...95,284,485
Ensembl chr 4:95,231,252...95,284,502 		JBrowse link
G B 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 H TDRD10 tudor domain containing 10 IAGP ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 1:154,502,219...154,548,147
Ensembl chr 1:154,502,219...154,548,147 		JBrowse link
G N Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chrNW_004624885:2,857,819...2,865,891
Ensembl chrNW_004624885:2,857,442...2,867,056 		JBrowse link
G G UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr20:9,264,456...9,273,550
Ensembl chr20:9,264,225...9,274,979 		JBrowse link
G P UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 4:95,221,149...95,229,533
Ensembl chr 4:95,221,199...95,229,530 		JBrowse link
G S Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chrNW_004936580:4,148,537...4,158,195
Ensembl chrNW_004936580:4,148,503...4,158,272 		JBrowse link
G D UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 7:42,806,185...42,813,586
Ensembl chr 7:42,806,185...42,814,747 		JBrowse link
G B 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
G C Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chrNW_004955545:1,047,536...1,055,806
Ensembl chrNW_004955545:1,046,138...1,055,806 		JBrowse link
G R Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 2:175,198,793...175,209,152
Ensembl chr 2:175,198,873...175,207,942 		JBrowse link
G M 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
G H UBE2Q1 ubiquitin conjugating enzyme E2 Q1 IAGP ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities ClinVar PMID:22974014 PMID:28492532 NCBI chr 1:154,548,577...154,558,662
Ensembl chr 1:154,548,577...154,559,028 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 199753
    sensory system disease 68296
      skin disease 38197
        pigmentation disease 2621
          dyschromatosis symmetrica hereditaria 57
Path 2
Term Annotations click to browse term
  disease 199753
    Pathological Conditions, Signs and Symptoms 128142
      Signs and Symptoms 104227
        Neurologic Manifestations 99982
          sensory system disease 68296
            skin disease 38197
              pigmentation disease 2621
                dyschromatosis symmetrica hereditaria 57
paths to the root