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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 21
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Accession:DOID:9002367 term browser browse the term
Definition:An autosomal recessive bone marrow failure syndrome that includes selective erythroid hypoplasia, anemia with transient thrombocytopenia, short stature, facial dysmorphism, limb abnormalities, cardiac defects, and intellectual disability. Caused by homozygous or compound heterozygous mutations in the HEATR3 gene on chromosome 16q12.
Synonyms:exact_synonym: DBA21
 primary_id: OMIM:620072


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Diamond-Blackfan Anemia 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEATR3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 OMIM
ClinVar		 PMID:25741868 PMID:35213692 NCBI chr16:30,329,163...30,369,658
Ensembl chr16:49,212,645...49,251,043 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4919
      congenital hypoplastic anemia 234
        Diamond-Blackfan anemia 150
          Diamond-Blackfan Anemia 21 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15262
      Hemic and Lymphatic Diseases 3708
        hematopoietic system disease 3225
          bone marrow disease 741
            Bone Marrow Failure Disorders 301
              aplastic anemia 275
                pure red-cell aplasia 152
                  Diamond-Blackfan anemia 150
                    Diamond-Blackfan Anemia 21 1
paths to the root