ONTOLOGY REPORT - ANNOTATIONS


Term:dyskeratosis congenita
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Accession:DOID:2729 term browser browse the term
Definition:A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
Synonyms:primary_id: MESH:D019871
 alt_id: DOID:0070025;   RDO:0001491
 xref: GARD:10905;   OMIM:PS127550;   ORDO:1775
For additional species annotation, visit the Alliance of Genome Resources.


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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 Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:734888
RGD:8554872
RGD:11554173
RGD:11251734
RGD:11251732
RGD:11251731
RGD:10755414
G Gar1 GAR1 ribonucleoprotein JBrowse link 2 235,250,453 235,258,464 RGD:11554173
G Nhp2 NHP2 ribonucleoprotein JBrowse link 10 34,975,701 34,979,082 RGD:8554872
G Parn poly(A)-specific ribonuclease JBrowse link 10 1,309,724 1,461,123 RGD:8554872
G Pfas phosphoribosylformylglycinamidine synthase JBrowse link 10 55,571,881 55,593,384 RGD:8554872
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:8554872
G Terc telomerase RNA component JBrowse link 2 116,432,723 116,433,110 RGD:11554173
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173
RGD:8554872
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:8554872
RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:13592920
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:7240710
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
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 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 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
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:7240710
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
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 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
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1b DNA cross-link repair 1B JBrowse link 2 206,285,085 206,293,599 RGD:8554872
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173
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
X-linked dyskeratosis congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        Skin Abnormalities 344
          dyskeratosis congenita 20
            Autosomal Dominant Dyskeratosis Congenita + 7
            Autosomal Recessive Dyskeratosis Congenita + 13
            X-linked dyskeratosis congenita + 3
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Genetic Skin Diseases 580
              dyskeratosis congenita 20
                Autosomal Dominant Dyskeratosis Congenita + 7
                Autosomal Recessive Dyskeratosis Congenita + 13
                X-linked dyskeratosis congenita + 3
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.