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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:autosomal recessive dyskeratosis congenita 4
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Accession:DOID:0070021 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of TERT on chromosome 5p15.33. (DO)
Synonyms:exact_synonym: DKCB4
 alt_id: RDO:9001434
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive dyskeratosis congenita 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 4 ClinVar PMID:15814878, PMID:17785587, PMID:18042801, PMID:18635888, PMID:18753630, PMID:18931339, PMID:21258621, PMID:21602826, PMID:23901009, PMID:24033266, PMID:25365545, PMID:25741868, PMID:26887940, PMID:27418648, PMID:28192371, PMID:28492532 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      skin disease 2749
        Genetic Skin Diseases 887
          dyskeratosis congenita 105
            Autosomal Recessive Dyskeratosis Congenita 14
              autosomal recessive dyskeratosis congenita 4 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            Skin Abnormalities 658
              dyskeratosis congenita 105
                Autosomal Recessive Dyskeratosis Congenita 14
                  autosomal recessive dyskeratosis congenita 4 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.