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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 13
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Accession:DOID:0111889 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. (DO)
Synonyms:exact_synonym: DBA13;   RPS29-related Diamond-Blackfan anemia
 primary_id: OMIM:615909


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Diamond-Blackfan anemia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 13
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24829207 PMID:25741868 PMID:28492532 NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital hypoplastic anemia 237
        Diamond-Blackfan anemia 152
          Diamond-Blackfan anemia 13 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          bone marrow disease 776
            Bone Marrow Failure Disorders 311
              aplastic anemia 285
                pure red-cell aplasia 155
                  Diamond-Blackfan anemia 152
                    Diamond-Blackfan anemia 13 1
paths to the root