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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 1
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Accession:DOID:9001587 term browser browse the term
Synonyms:exact_synonym: BMFF;   BMFS1;   BONE MARROW FAILURE, FAMILIAL;   SRP72-RELATED CONDITION
 primary_id: OMIM:614675


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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 term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22541560 PMID:25741868 PMID:28492532 NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Congenital Bone Marrow Failure Syndromes 12
        Bone Marrow Failure Syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          Hematologic Neoplasms 1050
            Bone Marrow Neoplasms 509
              bone marrow cancer 509
                myelodysplastic syndrome 243
                  Bone Marrow Failure Syndrome 1 1
paths to the root