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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 17126
    physical disorder 3070
      congenital hypoplastic anemia 116
        Diamond-Blackfan anemia 66
          Diamond-Blackfan anemia 4 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      Hemic and Lymphatic Diseases 2217
        hematopoietic system disease 1797
          bone marrow disease 488
            Bone Marrow Failure Disorders 176
              aplastic anemia 164
                pure red-cell aplasia 69
                  Diamond-Blackfan anemia 66
                    Diamond-Blackfan anemia 4 1
paths to the root