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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:Diamond-Blackfan Anemia-Like
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Accession:DOID:9009142 term browser browse the term
Synonyms:exact_synonym: DBAL
 primary_id: OMIM:617911


show annotations for term's descendants           Sort by:
Diamond-Blackfan Anemia-Like term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPO erythropoietin ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia-like OMIM
ClinVar		 PMID:28283061 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia-like ClinVar PMID:28492532 PMID:29681510 PMID:34162668 NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,725...136,464,940 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    physical disorder 4823
      congenital hypoplastic anemia 222
        Diamond-Blackfan anemia 140
          Diamond-Blackfan Anemia-Like 2
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Hemic and Lymphatic Diseases 3610
        hematopoietic system disease 3134
          bone marrow disease 718
            Bone Marrow Failure Disorders 290
              aplastic anemia 264
                pure red-cell aplasia 141
                  Diamond-Blackfan anemia 140
                    Diamond-Blackfan Anemia-Like 2
paths to the root