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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive dyskeratosis congenita 5
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Accession:DOID:0070022 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of RTEL1 on chromosome 20q13.33. (DO)
Synonyms:exact_synonym: DKCB5
 primary_id: OMIM:615190
 alt_id: RDO:9000278
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autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfrp1 ADP-ribosylation factor related protein 1 JBrowse link 3 176,857,667 176,865,105 RGD:8554872
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    sensory system disease 4684
      skin disease 2467
        Genetic Skin Diseases 753
          dyskeratosis congenita 20
            Autosomal Recessive Dyskeratosis Congenita 13
              autosomal recessive dyskeratosis congenita 5 2
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          skin disease 2467
            Skin Abnormalities 501
              dyskeratosis congenita 20
                Autosomal Recessive Dyskeratosis Congenita 13
                  autosomal recessive dyskeratosis congenita 5 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.