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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 4
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Accession:DOID:9008648 term browser browse the term
Synonyms:exact_synonym: THC4;   Thrombocytopenia, Autosomal Dominant, 4
 primary_id: MESH:C567438
 alt_id: MIM:612004


show annotations for term's descendants           Sort by:
Thrombocytopenia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cycs cytochrome c, somatic ISO DNA:mutation:cds:c.145T>C(p.Y48H)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Thrombocytopenia 4 		OMIM
CTD
ClinVar
RGD		 PMID:18345000 PMID:22102269 PMID:24326104 PMID:25741868 PMID:28492532 More... RGD:11352699 NCBI chr 4:80,982,667...80,984,767
Ensembl chr 4:80,982,668...80,984,816
Ensembl chr18:80,982,668...80,984,816 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      hematopoietic system disease 3839
        blood coagulation disease 1444
          hemorrhagic disease 1397
            blood platelet disease 452
              thrombocytopenia 327
                Thrombocytopenia 4 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3839
          blood coagulation disease 1444
            hemorrhagic disease 1397
              blood platelet disease 452
                thrombocytopenia 327
                  Thrombocytopenia 4 1
paths to the root