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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
 alt_id: OMIM:273900



show annotations for term's descendants           Sort by:
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 OMIM
ClinVar
PMID:25741868 PMID:25876182 NCBI chr 4:69,729,481...69,876,962
Ensembl chr 4:69,729,462...69,874,845
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      hematopoietic system disease 3183
        blood coagulation disease 916
          hemorrhagic disease 871
            blood platelet disease 344
              thrombocytopenia 264
                Thrombocytopenia 3 1
Path 2
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      Hemic and Lymphatic Diseases 3676
        hematopoietic system disease 3183
          blood coagulation disease 916
            hemorrhagic disease 871
              blood platelet disease 344
                thrombocytopenia 264
                  Thrombocytopenia 3 1
paths to the root