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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 the RPS17 gene on chromosome 15q25.2. (DO)
Synonyms:exact_synonym: DBA4;   RPS17-related Diamond-Blackfan anemia
 primary_id: MESH:C567281
 alt_id: OMIM:612527


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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 term: Diamond-Blackfan anemia 4 OMIM
ClinVar		 PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868 NCBI chr 3:54,400,519...54,403,203
Ensembl chr 3:54,312,195...54,406,452 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4879
      congenital hypoplastic anemia 231
        Diamond-Blackfan anemia 148
          Diamond-Blackfan anemia 4 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      Hemic and Lymphatic Diseases 3680
        hematopoietic system disease 3188
          bone marrow disease 736
            Bone Marrow Failure Disorders 299
              aplastic anemia 274
                pure red-cell aplasia 151
                  Diamond-Blackfan anemia 148
                    Diamond-Blackfan anemia 4 1
paths to the root