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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 4
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Accession:DOID:0111890 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS17 on chromosome 15q25.2. (DO)
Synonyms:exact_synonym: DBA4;   RPS17-related Diamond-Blackfan anemia
 primary_id: MESH:C567281
 alt_id: OMIM:612527
For additional species annotation, visit the Alliance of Genome Resources.


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Diamond-Blackfan anemia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps17 ribosomal protein S17 ISO ClinVar Annotator: match by OMIM:612527 OMIM
ClinVar
PMID:17647292, PMID:23718193, PMID:23812780 NCBI chr 1:143,167,329...143,169,915
Ensembl chr 1:143,167,362...143,169,657
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      hematopoietic system disease 1643
        anemia 405
          pure red-cell aplasia 65
            Diamond-Blackfan anemia 62
              Diamond-Blackfan anemia 4 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Hemic and Lymphatic Diseases 2047
        hematopoietic system disease 1643
          bone marrow disease 473
            Bone Marrow Failure Disorders 162
              aplastic anemia 150
                congenital hypoplastic anemia 107
                  Diamond-Blackfan anemia 62
                    Diamond-Blackfan anemia 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.