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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 6
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Accession:DOID:0111879 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1. (DO)
Synonyms:exact_synonym: Aase Smith Syndrome 2;   Aase-Smith syndrome II;   DBA6;   RPL5-related Diamond-Blackfan anemia;   anemia and triphalangeal thumbs;   congenital anemia and triphalangeal thumbs;   hypoplastic anemia-triphalangeal thumbs, Aase-Smith type
 primary_id: MESH:C538442
 alt_id: OMIM:612561


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Diamond-Blackfan anemia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr 1:95,507,241...95,631,286
Ensembl chr 1:94,232,632...94,275,864 		JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 OMIM
ClinVar		 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr 1:95,497,047...95,507,006
Ensembl chr 1:94,230,451...94,241,522 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      congenital hypoplastic anemia 234
        Diamond-Blackfan anemia 150
          Diamond-Blackfan anemia 6 2
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Hemic and Lymphatic Diseases 3704
        hematopoietic system disease 3221
          bone marrow disease 740
            Bone Marrow Failure Disorders 301
              aplastic anemia 275
                pure red-cell aplasia 152
                  Diamond-Blackfan anemia 150
                    Diamond-Blackfan anemia 6 2
paths to the root