ONTOLOGY REPORT - ANNOTATIONS


Term:Revesz syndrome
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Accession:DOID:0070026 term browser browse the term
Definition:A dyskeratosis congenita that has material basis in a mutation of TINF2 on chromosome 14q12. (DO)
Synonyms:exact_synonym: DKCA5;   Revesz Debuse Syndrome;   dyskeratosis congenita, autosomal dominant 5;   exudative retinopathy with bone marrow failure
 primary_id: MESH:C538371
 alt_id: DOID:9001857;   OMIM:268130;   RDO:0004345
 xref: GARD:4695
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Revesz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Revesz syndrome 1
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal dominant disease 1098
                Autosomal Dominant Dyskeratosis Congenita 7
                  Revesz syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.