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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked dyskeratosis congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked
ClinVar Annotator: match by term: Dyskeratosis congenita X-linked
OMIM
ClinVar
PMID:1361371 PMID:3009302 PMID:7607282 PMID:9042917 PMID:9590285 PMID:10364516 PMID:10438713 PMID:10583221 PMID:10700698 PMID:11379875 PMID:11491307 PMID:12137939 PMID:12437656 PMID:14648217 PMID:15304085 PMID:15842668 PMID:16332973 PMID:18627054 PMID:19391112 PMID:19734544 PMID:19835419 PMID:19879169 PMID:20008900 PMID:21602826 PMID:22058290 PMID:23660516 PMID:24033266 PMID:24115260 PMID:24914498 PMID:25326635 PMID:25741868 PMID:25992652 PMID:27418648 PMID:28492532 PMID:29483670 PMID:31474318 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:206,285,085...206,293,599
Ensembl chr 2:206,285,089...206,293,599
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    sensory system disease 5584
      skin disease 2945
        Genetic Skin Diseases 1041
          dyskeratosis congenita 106
            X-linked dyskeratosis congenita 3
              Hoyeraal Hreidarsson Syndrome 3
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 0
        sensory system disease 5584
          skin disease 2945
            Skin Abnormalities 763
              dyskeratosis congenita 106
                X-linked dyskeratosis congenita 3
                  Hoyeraal Hreidarsson Syndrome 3
paths to the root