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ONTOLOGY REPORT - ANNOTATIONS


Term:Autosomal Recessive Dyskeratosis Congenita
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Accession:DOID:9004373 term browser browse the term
Synonyms:exact_synonym: recessive dyskeratosis congenita
 primary_id: MESH:C565611
 alt_id: RDO:0014202
For additional species annotation, visit the Alliance of Genome Resources.


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Autosomal Recessive Dyskeratosis Congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
G Nhp2 NHP2 ribonucleoprotein JBrowse link 10 34,975,701 34,979,082 RGD:8554872
RGD:11554173
G Nop10 NOP10 ribonucleoprotein JBrowse link 3 103,747,654 103,748,739 RGD:8554872
RGD:11554173
G Pfas phosphoribosylformylglycinamidine synthase JBrowse link 10 55,571,881 55,593,384 RGD:8554872
G Rmnd5b required for meiotic nuclear division 5 homolog B JBrowse link 10 34,979,902 34,990,985 RGD:8554872
G Slc12a6 solute carrier family 12, member 6 JBrowse link 3 103,752,213 103,852,686 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872
G Wrap53 WD repeat containing, antisense to TP53 JBrowse link 10 56,169,024 56,185,800 RGD:8554872
autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhp2 NHP2 ribonucleoprotein JBrowse link 10 34,975,701 34,979,082 RGD:8554872
RGD:13592920
G Nop10 NOP10 ribonucleoprotein JBrowse link 3 103,747,654 103,748,739 RGD:8554872
RGD:7240710
G Rmnd5b required for meiotic nuclear division 5 homolog B JBrowse link 10 34,979,902 34,990,985 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
autosomal recessive dyskeratosis congenita 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhp2 NHP2 ribonucleoprotein JBrowse link 10 34,975,701 34,979,082 RGD:8554872
RGD:7240710
G Rmnd5b required for meiotic nuclear division 5 homolog B JBrowse link 10 34,979,902 34,990,985 RGD:8554872
autosomal recessive dyskeratosis congenita 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wrap53 WD repeat containing, antisense to TP53 JBrowse link 10 56,169,024 56,185,800 RGD:7240710
RGD:8554872
autosomal recessive dyskeratosis congenita 4 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
autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfrp1 ADP-ribosylation factor related protein 1 JBrowse link 3 176,857,667 176,865,105 RGD:8554872
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:7240710
RGD:8554872
autosomal recessive dyskeratosis congenita 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Parn poly(A)-specific ribonuclease JBrowse link 10 1,309,724 1,461,123 RGD:8554872
RGD:7240710
Autosomal Recessive Dyskeratosis Congenita 7 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:8554872

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 Recessive Dyskeratosis Congenita 13
              Autosomal Recessive Dyskeratosis Congenita 7 1
              autosomal recessive dyskeratosis congenita 1 4
              autosomal recessive dyskeratosis congenita 2 2
              autosomal recessive dyskeratosis congenita 3 1
              autosomal recessive dyskeratosis congenita 4 1
              autosomal recessive dyskeratosis congenita 5 2
              autosomal recessive 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 Recessive Dyskeratosis Congenita 13
                  Autosomal Recessive Dyskeratosis Congenita 7 1
                  autosomal recessive dyskeratosis congenita 1 4
                  autosomal recessive dyskeratosis congenita 2 2
                  autosomal recessive dyskeratosis congenita 3 1
                  autosomal recessive dyskeratosis congenita 4 1
                  autosomal recessive dyskeratosis congenita 5 2
                  autosomal recessive 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.