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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 the WRAP53 gene on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: DKCB3;   WRAP53-RELATED CONDITION
 primary_id: OMIM:613988


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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 Annotator: match by term: WRAP53-related condition ClinVar PMID:17683073 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: WRAP53-related condition		 OMIM
CTD
ClinVar		 PMID:17683073 PMID:20301779 PMID:21205863 PMID:24033266 PMID:25741868 More... NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      skin disease 3960
        Genetic Skin Diseases 1850
          dyskeratosis congenita 328
            Autosomal Recessive Dyskeratosis Congenita 25
              autosomal recessive dyskeratosis congenita 3 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Genetic Skin Diseases 1850
                dyskeratosis congenita 328
                  Autosomal Recessive Dyskeratosis Congenita 25
                    autosomal recessive dyskeratosis congenita 3 2
paths to the root