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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 19
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Accession:DOID:0111886 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL35 on chromosome 9q33.3. (DO)
Synonyms:exact_synonym: DBA19;   RPL35-related Diamond-Blackfan anemia
 primary_id: OMIM:618312
For additional species annotation, visit the Alliance of Genome Resources.


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Diamond-Blackfan anemia 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl35 ribosomal protein L35 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 19 ClinVar
OMIM
PMID:28280134 NCBI chr 3:23,294,813...23,297,774
Ensembl chr 3:23,294,814...23,297,774
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital hypoplastic anemia 110
        Diamond-Blackfan anemia 65
          Diamond-Blackfan anemia 19 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Hemic and Lymphatic Diseases 2059
        hematopoietic system disease 1642
          bone marrow disease 481
            Bone Marrow Failure Disorders 170
              aplastic anemia 158
                pure red-cell aplasia 68
                  Diamond-Blackfan anemia 65
                    Diamond-Blackfan anemia 19 1
paths to the root