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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 7
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Accession:DOID:0111878 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. (DO)
Synonyms:exact_synonym: DBA7;   RPL11-related Diamond-Blackfan anemia
 primary_id: MESH:C567254
 alt_id: OMIM:612562



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Diamond-Blackfan anemia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl11 ribosomal protein L11 ISO
IMP
IAGP
DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)
DNA:deletions, snp:exons, introns:multiple (human)
DNA:deletions:exons:g.58_59delCT, g.460delA (human)
DNA:mutations:multiple (human)
DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human)
OMIM:612562
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
OMIM
MouseDO
CTD
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... RGD:11535122, RGD:11535132, RGD:11535130, RGD:11535967, RGD:11535969, RGD:11535971 NCBI chr 4:135,776,665...135,780,704
Ensembl chr 4:135,755,576...135,780,739
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    physical disorder 4989
      congenital hypoplastic anemia 236
        Diamond-Blackfan anemia 151
          Diamond-Blackfan anemia 7 1
Path 2
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      Hemic and Lymphatic Diseases 3772
        hematopoietic system disease 3269
          bone marrow disease 760
            Bone Marrow Failure Disorders 309
              aplastic anemia 283
                pure red-cell aplasia 154
                  Diamond-Blackfan anemia 151
                    Diamond-Blackfan anemia 7 1
paths to the root