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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:X-Linked Thrombocytopenia, Intermittent
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Accession:DOID:9005525 term browser browse the term
Synonyms:primary_id: MESH:C564053
 alt_id: RDO:0013146
For additional species annotation, visit the Alliance of Genome Resources.


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X-Linked Thrombocytopenia, Intermittent term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by null ClinVar PMID:11877312 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            X-linked monogenic disease 920
              X-Linked Thrombocytopenia, Intermittent 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
                  X-Linked Thrombocytopenia, Intermittent 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.