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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 3
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Accession:DOID:0070019 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: DKCB3
 primary_id: OMIM:613988
 alt_id: RDO:9000277
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive dyskeratosis congenita 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 3 ClinVar PMID:17683073, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO OMIM NCBI chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,974,741
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12618
    sensory system disease 4777
      skin disease 2495
        Genetic Skin Diseases 823
          dyskeratosis congenita 99
            Autosomal Recessive Dyskeratosis Congenita 14
              autosomal recessive dyskeratosis congenita 3 2
Path 2
Term Annotations click to browse term
  disease 12618
    disease of anatomical entity 12151
      nervous system disease 9917
        sensory system disease 4777
          skin disease 2495
            Skin Abnormalities 624
              dyskeratosis congenita 99
                Autosomal Recessive Dyskeratosis Congenita 14
                  autosomal recessive dyskeratosis congenita 3 2
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.