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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
For additional species annotation, visit the Alliance of Genome Resources.



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 ClinVar
OMIM
PMID:28283061 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA-LIKE ClinVar NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    physical disorder 3094
      congenital hypoplastic anemia 116
        Diamond-Blackfan anemia 66
          Diamond-Blackfan Anemia-Like 2
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      Hemic and Lymphatic Diseases 2332
        hematopoietic system disease 1913
          bone marrow disease 605
            Bone Marrow Failure Disorders 177
              aplastic anemia 165
                pure red-cell aplasia 69
                  Diamond-Blackfan anemia 66
                    Diamond-Blackfan Anemia-Like 2
paths to the root