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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 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5728
            X-linked monogenic disease 1032
              X-Linked Thrombocytopenia, Intermittent 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      Hemic and Lymphatic Diseases 2070
        hematopoietic system disease 1652
          blood coagulation disease 626
            hemorrhagic disease 616
              blood platelet disease 311
                thrombocytopenia 254
                  X-Linked Thrombocytopenia, Intermittent 1
paths to the root