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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:Thrombocytopenia 3
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Accession:DOID:9002574 term browser browse the term
Synonyms:exact_synonym: THC3;   Thrombocytopenia, Autosomal Recessive, 3
 primary_id: MESH:C567487;   RDO:0015549
 alt_id: OMIM:273900
For additional species annotation, visit the Alliance of Genome Resources.


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Thrombocytopenia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fyb1 FYN binding protein 1 ISO ClinVar Annotator: match by term: Thrombocytopenia 3 ClinVar
OMIM
PMID:25876182 NCBI chr 2:55,834,904...55,983,805
Ensembl chr 2:55,835,151...55,983,804
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      hematopoietic system disease 1645
        hemorrhagic disease 611
          blood platelet disease 292
            thrombocytopenia 219
              Thrombocytopenia 3 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1645
          blood coagulation disease 624
            hemorrhagic disease 611
              blood platelet disease 292
                thrombocytopenia 219
                  Thrombocytopenia 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.