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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 2:60,419,446...60,446,656
Ensembl chr 2:60,419,525...60,446,510
JBrowse link
G Ercc6l2 ERCC excision repair 6 like 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:1,325,654...1,421,732
Ensembl chr17:1,305,016...1,421,685
JBrowse link
G Srp72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:33,447,583...33,453,788 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 chr14:33,447,583...33,453,788 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:29633571 NCBI chr17:1,325,654...1,421,732
Ensembl chr17:1,305,016...1,421,685
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:29700810 NCBI chr 2:60,419,446...60,446,656
Ensembl chr 2:60,419,525...60,446,510
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 5:113,902,115...113,939,083
Ensembl chr 5:113,906,803...113,939,127
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 OMIM
ClinVar
PMID:30146126 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 chr13:49,786,776...49,828,780
Ensembl chr13:49,792,794...49,828,720
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 2:60,419,446...60,446,656
Ensembl chr 2:60,419,525...60,446,510
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
PMID:10393609, PMID:10556188, PMID:11553003, PMID:12496757, PMID:14749921, PMID:14984468, PMID:15284109, PMID:15769891, PMID:15860664, PMID:15942154, PMID:16047374, PMID:17478638, PMID:17916435, PMID:19148133, PMID:21536732, PMID:21695142, PMID:22191555, PMID:22934832, PMID:22935661, PMID:23351992, PMID:24033266, PMID:24388329, PMID:24629175, PMID:24898207, PMID:25525159, PMID:25741868, PMID:26822237, PMID:28509441, PMID:32581362, PMID:12496757 RGD:1599541 NCBI chr12:29,921,443...29,930,602
Ensembl chr12:29,921,443...29,930,600
JBrowse link
G Serpini2 serpin family I member 2 ISS OMIM:260400 MouseDO NCBI chr 2:173,640,385...173,670,790
Ensembl chr 2:173,640,385...173,668,555
JBrowse link
G Srp19 signal recognition particle 19 ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr18:27,114,822...27,121,062
Ensembl chr18:27,114,822...27,121,059
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 6:75,996,629...76,035,768
Ensembl chr 6:75,996,643...76,034,083
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr 8:36,410,683...36,416,766
Ensembl chr 8:36,410,683...36,416,296
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      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 16108
    disease of anatomical entity 15356
      Hemic and Lymphatic Diseases 2047
        hematopoietic system disease 1643
          bone marrow disease 473
            Bone Marrow Failure Disorders 162
              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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.