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Bone Marrow Failure Syndrome 2 - Ontology Report - Rat Genome Database

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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 2
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Accession:DOID:9007049 term browser browse the term
Synonyms:exact_synonym: BMFS2;   ERCC6L2-RELATED CONDITION
 primary_id: MIM:615715

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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 term: Bone marrow failure syndrome 2 | ClinVar Annotator: match by term: ERCC6L2-related condition OMIM
ClinVar		 PMID:24507776 PMID:25741868 PMID:27185855 PMID:28492532 PMID:29146883 More... NCBI chr17:1,055,881...1,323,207
Ensembl chr17:1,216,428...1,310,275 		JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Bone marrow failure syndrome 2 ClinVar PMID:12627330 PMID:14517956 PMID:16602010 PMID:20337973 PMID:21348868 More... NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      Congenital Bone Marrow Failure Syndromes 13
        Bone Marrow Failure Syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Hemic and Lymphatic Diseases 4328
        hematopoietic system disease 3837
          bone marrow disease 840
            Bone Marrow Failure Disorders 377
              Congenital Bone Marrow Failure Syndromes 13
                Bone Marrow Failure Syndrome 2 2
paths to the root