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ONTOLOGY REPORT - ANNOTATIONS


Term:Congenital Bone Marrow Failure Syndromes
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Accession:DOID:9004906 term browser browse the term
Definition:Inherited syndromes characterized by deficiency or absence of various blood cells due to mutations that affect HEMATOPOIETIC STEM CELLS development and proliferation. (MESH)
Synonyms:exact_synonym: CBMFS;   IBMFS;   Inherited BMF Syndromes;   Inherited Bone Marrow Failure Syndromes;   inherited bone marrow failure syndrome
 primary_id: MESH:D000080984
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Bone Marrow Failure Syndromes 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: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
Shwachman-Diamond syndrome 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:11554173
G Kmt2b lysine methyltransferase 2B JBrowse link 1 89,022,889 89,042,176 RGD:8554872
G Sbds SBDS, ribosome maturation factor JBrowse link 12 29,921,443 29,930,602 RGD:7240710
RGD:8554872
G Serpini2 serpin family I member 2 JBrowse link 2 173,640,385 173,670,790 RGD:13592920
G Srp54a signal recognition particle 54A JBrowse link 6 75,996,629 76,035,768 RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      Congenital Bone Marrow Failure Syndromes 9
        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
        Shwachman-Diamond syndrome 5
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      Hemic and Lymphatic Diseases 1900
        hematopoietic system disease 1545
          bone marrow disease 438
            Bone Marrow Failure Disorders 156
              Congenital Bone Marrow Failure Syndromes 9
                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
                Shwachman-Diamond syndrome 5
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.