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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 the RPL35A gene on chromosome 3q29. (DO)
Synonyms:exact_synonym: DBA5;   RPL35A-RELATED CONDITION;   RPL35A-related Diamond-Blackfan anemia
 primary_id: MESH:C567280
 alt_id: OMIM:612528


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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 term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 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 DNA:deletions, snps:multiple (human)
DNA:deletions, duplication:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... RGD:11535069, RGD:11535072 NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942
Ensembl chr 5:67,726,032...67,729,942 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      congenital hypoplastic anemia 240
        pure red-cell aplasia 155
          Diamond-Blackfan anemia 152
            Diamond-Blackfan anemia 5 2
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Hemic and Lymphatic Diseases 3852
        hematopoietic system disease 3341
          anemia 786
            normocytic anemia 679
              aplastic anemia 288
                congenital hypoplastic anemia 240
                  pure red-cell aplasia 155
                    Diamond-Blackfan anemia 152
                      Diamond-Blackfan anemia 5 2
paths to the root