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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;   RDO:0015506
 alt_id: OMIM:612004
For additional species annotation, visit the Alliance of Genome Resources.


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 ClinVar Annotator: match by OMIM:612004
DNA:mutation:cds:c.145T>C(p.Y48H)(human)
ClinVar Annotator: match by term: Thrombocytopenia 4
OMIM
ClinVar
PMID:18345000, PMID:24326104, PMID:25741868, PMID:30051457, PMID:31064749, PMID:24326104 RGD:11352699 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      hematopoietic system disease 1646
        hemorrhagic disease 611
          blood platelet disease 292
            thrombocytopenia 219
              Thrombocytopenia 4 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          blood coagulation disease 624
            hemorrhagic disease 611
              blood platelet disease 292
                thrombocytopenia 219
                  Thrombocytopenia 4 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.