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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:Bone Marrow Failure Syndrome 4
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Accession:DOID:9006327 term browser browse the term
Definition:Autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. (OMIM)
Synonyms:exact_synonym: BMFS4;   MYSM1-RELATED CONDITION
 primary_id: OMIM:618116


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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 | ClinVar Annotator: match by term: MYSM1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22184403 PMID:24288411 More... NCBI chr 5:109,761,345...109,826,652
Ensembl chr 5:109,776,286...109,819,967 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Congenital Bone Marrow Failure Syndromes 12
        Bone Marrow Failure Syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Hemic and Lymphatic Diseases 3854
        hematopoietic system disease 3344
          bone marrow disease 776
            Bone Marrow Failure Disorders 311
              Congenital Bone Marrow Failure Syndromes 12
                Bone Marrow Failure Syndrome 4 1
paths to the root