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ONTOLOGY REPORT - ANNOTATIONS


Term:Autosomal Dominant Dyskeratosis Congenita
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Accession:DOID:9000981 term browser browse the term
Synonyms:primary_id: MESH:C565079
 alt_id: RDO:0013817
For additional species annotation, visit the Alliance of Genome Resources.


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Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actrt3 actin-related protein T3 JBrowse link 2 116,416,561 116,418,521 RGD:8554872
G Inpp4a inositol polyphosphate-4-phosphatase type I A JBrowse link 9 43,889,887 44,006,593 RGD:8554872
G Terc telomerase RNA component JBrowse link 2 116,432,723 116,433,110 RGD:8554872
RGD:11554173
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
RGD:11554173
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:8554872
RGD:11554173
autosomal dominant dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Terc telomerase RNA component JBrowse link 2 116,432,723 116,433,110 RGD:7240710
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:13592920
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:13592920
autosomal dominant dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
RGD:7240710
autosomal dominant dyskeratosis congenita 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:7240710
RGD:8554872
autosomal dominant dyskeratosis congenita 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:8554872
autosomal dominant dyskeratosis congenita 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acd ACD, shelterin complex subunit and telomerase recruitment factor JBrowse link 19 37,665,289 37,668,043 RGD:7240710
RGD:8554872
Revesz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      skin disease 2461
        Genetic Skin Diseases 752
          dyskeratosis congenita 20
            Autosomal Dominant Dyskeratosis Congenita 7
              Revesz syndrome 1
              autosomal dominant dyskeratosis congenita 1 3
              autosomal dominant dyskeratosis congenita 2 1
              autosomal dominant dyskeratosis congenita 3 1
              autosomal dominant dyskeratosis congenita 4 1
              autosomal dominant dyskeratosis congenita 6 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            Skin Abnormalities 500
              dyskeratosis congenita 20
                Autosomal Dominant Dyskeratosis Congenita 7
                  Revesz syndrome 1
                  autosomal dominant dyskeratosis congenita 1 3
                  autosomal dominant dyskeratosis congenita 2 1
                  autosomal dominant dyskeratosis congenita 3 1
                  autosomal dominant dyskeratosis congenita 4 1
                  autosomal dominant dyskeratosis congenita 6 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.