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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive dyskeratosis congenita 6
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Accession:DOID:0070024 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of PARN on chromosome 16p13.12. (DO)
Synonyms:exact_synonym: DKCB6
 primary_id: OMIM:616353
 alt_id: DOID:9007288;   RDO:9000438
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autosomal recessive dyskeratosis congenita 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Parn poly(A)-specific ribonuclease JBrowse link 10 1,309,724 1,461,123 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    sensory system disease 4685
      skin disease 2467
        Genetic Skin Diseases 753
          dyskeratosis congenita 20
            Autosomal Recessive Dyskeratosis Congenita 13
              autosomal recessive dyskeratosis congenita 6 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        sensory system disease 4685
          skin disease 2467
            Skin Abnormalities 501
              dyskeratosis congenita 20
                Autosomal Recessive Dyskeratosis Congenita 13
                  autosomal recessive dyskeratosis congenita 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.