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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 dominant dyskeratosis congenita 4
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Accession:DOID:0070020 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. (DO)
Synonyms:exact_synonym: DKCA4


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autosomal dominant dyskeratosis congenita 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 4 ClinVar PMID:23329068 PMID:23453664 PMID:23959892 PMID:25326637 PMID:25607374 More... NCBI chr24:47,219,977...47,248,791 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    sensory system disease 6587
      skin disease 3751
        Genetic Skin Diseases 1818
          dyskeratosis congenita 326
            Autosomal Dominant Dyskeratosis Congenita 152
              autosomal dominant dyskeratosis congenita 4 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6587
            skin disease 3751
              Genetic Skin Diseases 1818
                dyskeratosis congenita 326
                  Autosomal Dominant Dyskeratosis Congenita 152
                    autosomal dominant dyskeratosis congenita 4 1
paths to the root