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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked dyskeratosis congenita
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Accession:DOID:0070025 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of DKC1 on chromosome Xq28. (DO)
Synonyms:exact_synonym: DKCX;   Zinsser-Cole-Engman syndrome
 primary_id: OMIM:305000
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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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15608
    sensory system disease 4766
      skin disease 2496
        Genetic Skin Diseases 764
          dyskeratosis congenita 23
            X-linked dyskeratosis congenita 3
              Hoyeraal Hreidarsson Syndrome 3
Path 2
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      nervous system disease 10397
        sensory system disease 4766
          skin disease 2496
            Skin Abnormalities 508
              dyskeratosis congenita 23
                X-linked dyskeratosis congenita 3
                  Hoyeraal Hreidarsson Syndrome 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.