ONTOLOGY REPORT - ANNOTATIONS


Term:Bone Marrow Failure Syndromes
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Accession:DOID:9007222 term browser browse the term
Synonyms:narrow_synonym: INHERITED BONE MARROW FAILURE SYNDROME
 primary_id: MESH:C536572
 alt_id: RDO:0002194
 xref: OMIM:PS614675
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Bone Marrow Failure Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:11554173
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 JBrowse link 2 60,419,446 60,446,656 RGD:8554872
RGD:11554173
G Ercc6l2 ERCC excision repair 6 like 2 JBrowse link 17 1,325,654 1,421,732 RGD:11554173
G Srp72 signal recognition particle 72 JBrowse link 14 33,447,583 33,453,788 RGD:11554173
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srp72 signal recognition particle 72 JBrowse link 14 33,447,583 33,453,788 RGD:8554872
RGD:7240710
Bone Marrow Failure Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6l2 ERCC excision repair 6 like 2 JBrowse link 17 1,325,654 1,421,732 RGD:7240710
RGD:8554872
Bone Marrow Failure Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 JBrowse link 2 60,419,446 60,446,656 RGD:8554872
RGD:7240710
Bone Marrow Failure Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mysm1 myb-like, SWIRM and MPN domains 1 JBrowse link 5 113,902,115 113,939,083 RGD:7240710
RGD:8554872
Bone Marrow Failure Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Terc telomerase RNA component JBrowse link 2 116,432,723 116,433,110 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 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 14920
    syndrome 4714
      Bone Marrow Failure Syndromes 10
        Bone Marrow Failure Syndrome 1 1
        Bone Marrow Failure Syndrome 2 1
        Bone Marrow Failure Syndrome 3 1
        Bone Marrow Failure Syndrome 4 1
        Bone Marrow Failure Syndrome 5 1
        Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related + 4
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      Hemic and Lymphatic Diseases 1591
        hematopoietic system disease 1375
          bone marrow disease 399
            Bone Marrow Neoplasms 288
              bone marrow cancer 288
                myelodysplastic syndrome 112
                  paroxysmal nocturnal hemoglobinuria 17
                    Bone Marrow Failure Syndromes 10
                      Bone Marrow Failure Syndrome 1 1
                      Bone Marrow Failure Syndrome 2 1
                      Bone Marrow Failure Syndrome 3 1
                      Bone Marrow Failure Syndrome 4 1
                      Bone Marrow Failure Syndrome 5 1
                      Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related + 4
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.