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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 8
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Accession:DOID:0111881 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3. (DO)
Synonyms:exact_synonym: DBA8;   RPS7-RELATED CONDITION;   RPS7-related Diamond-Blackfan anemia
 primary_id: MESH:C567253
 alt_id: OMIM:612563


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Diamond-Blackfan anemia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adi1 acireductone dioxygenase 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr12:28,725,206...28,732,174
Ensembl chr12:28,725,230...28,732,174 		JBrowse link
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr12:28,644,171...28,673,458
Ensembl chr12:28,644,172...28,673,376 		JBrowse link
G Rnaseh1 ribonuclease H1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr12:28,699,600...28,709,591
Ensembl chr12:28,699,601...28,709,588 		JBrowse link
G Rps7 ribosomal protein S7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:23718193 More... NCBI chr12:28,680,846...28,685,952
Ensembl chr12:28,680,853...28,685,952 		JBrowse link
G Trappc12 trafficking protein particle complex 12 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr12:28,740,619...28,801,746
Ensembl chr12:28,740,627...28,800,471 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    physical disorder 5016
      congenital hypoplastic anemia 239
        pure red-cell aplasia 154
          Diamond-Blackfan anemia 151
            Diamond-Blackfan anemia 8 5
Path 2
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      Hemic and Lymphatic Diseases 3777
        hematopoietic system disease 3274
          anemia 791
            normocytic anemia 688
              aplastic anemia 283
                congenital hypoplastic anemia 239
                  pure red-cell aplasia 154
                    Diamond-Blackfan anemia 151
                      Diamond-Blackfan anemia 8 5
paths to the root