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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO ClinVar Annotator: match by term: Inherited bone marrow failure syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:27346687 NCBI chr 2:59,419,505...59,446,743
Ensembl chr 2:59,419,510...59,446,752
JBrowse link
G Ercc6l2 ERCC excision repair 6 like 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275
JBrowse link
G Srp72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:31,168,175...31,195,717 JBrowse link
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp72 signal recognition particle 72 ISO ClinVar Annotator: match by OMIM:614675
ClinVar Annotator: match by term: Bone marrow failure syndrome 1
ClinVar
OMIM
PMID:22541560 PMID:25741868 PMID:28492532 NCBI chr14:31,168,175...31,195,717 JBrowse link
Bone Marrow Failure Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6l2 ERCC excision repair 6 like 2 ISO ClinVar Annotator: match by OMIM:615715
ClinVar Annotator: match by term: Bone marrow failure syndrome 2
OMIM
ClinVar
PMID:24507776 PMID:25741868 PMID:27185855 PMID:28492532 PMID:29633571 NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275
JBrowse link
Bone Marrow Failure Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO ClinVar Annotator: match by term: Bone marrow failure syndrome 3 ClinVar
OMIM
PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 PMID:29700810 NCBI chr 2:59,419,505...59,446,743
Ensembl chr 2:59,419,510...59,446,752
JBrowse link
Bone Marrow Failure Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mysm1 myb-like, SWIRM and MPN domains 1 ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 4 OMIM
ClinVar
PMID:22184403 PMID:24288411 PMID:25741868 PMID:26220525 PMID:28115216 NCBI chr 5:109,761,345...109,826,652
Ensembl chr 5:109,776,286...109,819,967
JBrowse link
Bone Marrow Failure Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Bone marrow failure syndrome 5
ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 5
OMIM
ClinVar
PMID:12826609 PMID:16437140 PMID:25741868 PMID:28492532 PMID:29979965 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
Bone Marrow Failure Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdm4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 6 OMIM
ClinVar
PMID:32300648 NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
JBrowse link
Shwachman-Diamond syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:59,419,505...59,446,743
Ensembl chr 2:59,419,510...59,446,752
JBrowse link
G Sbds SBDS, ribosome maturation factor ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
ClinVar Annotator: match by term: Shwachman syndrome
ClinVar Annotator: match by OMIM:260400
ClinVar
OMIM
RGD
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... RGD:1599541 NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
JBrowse link
G Serpini2 serpin family I member 2 ISS OMIM:260400 MouseDO NCBI chr 2:160,014,721...160,044,271
Ensembl chr 2:160,014,721...160,044,280
JBrowse link
G Srp19 signal recognition particle 19 ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr18:25,931,734...25,937,974
Ensembl chr18:25,931,589...25,938,017
JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Shwachman syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28972538 PMID:29914977 NCBI chr 6:72,587,582...72,645,154
Ensembl chr 6:72,587,605...72,625,189
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Congenital Bone Marrow Failure Syndromes 11
        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
        Bone Marrow Failure Syndrome 6 1
        Shwachman-Diamond syndrome 6
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Hemic and Lymphatic Diseases 2337
        hematopoietic system disease 1914
          bone marrow disease 605
            Bone Marrow Failure Disorders 177
              Congenital Bone Marrow Failure Syndromes 11
                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
                Bone Marrow Failure Syndrome 6 1
                Shwachman-Diamond syndrome 6
paths to the root