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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 5
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Accession:DOID:0111883 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL35A on chromosome 3q29. (DO)
Synonyms:exact_synonym: DBA5;   RPL35A-related Diamond-Blackfan anemia
 primary_id: MESH:C567280
 alt_id: OMIM:612528
For additional species annotation, visit the Alliance of Genome Resources.


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Diamond-Blackfan anemia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
ClinVar PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... NCBI chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168
JBrowse link
G Rpl35a ribosomal protein L35a ISO ClinVar Annotator: match by OMIM:612528
DNA:deletions, snps:multiple (human)
DNA:deletions, duplication:multiple (human)
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
OMIM
ClinVar
PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... RGD:11535069, RGD:11535072

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    physical disorder 3087
      congenital hypoplastic anemia 116
        Diamond-Blackfan anemia 66
          Diamond-Blackfan anemia 5 2
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      Hemic and Lymphatic Diseases 2326
        hematopoietic system disease 1907
          bone marrow disease 603
            Bone Marrow Failure Disorders 176
              aplastic anemia 164
                pure red-cell aplasia 69
                  Diamond-Blackfan anemia 66
                    Diamond-Blackfan anemia 5 2
paths to the root