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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 18
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Accession:DOID:0111896 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33. (DO)
Synonyms:exact_synonym: DBA18;   RPL18-related Diamond-Blackfan anemia
 primary_id: OMIM:618310


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Diamond-Blackfan anemia 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl18 ribosomal protein L18 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 ClinVar
OMIM		 PMID:28280134 NCBI chr 7:45,364,891...45,370,255
Ensembl chr 7:45,364,881...45,370,260 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16106
    physical disorder 5015
      congenital hypoplastic anemia 239
        pure red-cell aplasia 154
          Diamond-Blackfan anemia 151
            Diamond-Blackfan anemia 18 1
Path 2
Term Annotations click to browse term
  disease 16106
    disease of anatomical entity 15662
      Hemic and Lymphatic Diseases 3778
        hematopoietic system disease 3275
          anemia 794
            normocytic anemia 691
              aplastic anemia 286
                congenital hypoplastic anemia 239
                  pure red-cell aplasia 154
                    Diamond-Blackfan anemia 151
                      Diamond-Blackfan anemia 18 1
paths to the root