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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


show annotations for term's descendants           Sort by:
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 term: Thrombocytopenia, X-linked, intermittent ClinVar PMID:11877312 NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            X-linked monogenic disease 1315
              X-Linked Thrombocytopenia, Intermittent 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Hemic and Lymphatic Diseases 3610
        hematopoietic system disease 3134
          blood coagulation disease 894
            hemorrhagic disease 851
              blood platelet disease 338
                thrombocytopenia 267
                  X-Linked Thrombocytopenia, Intermittent 1
paths to the root