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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 1
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Accession:DOID:9000557 term browser browse the term
Synonyms:exact_synonym: THC;   THC1;   X-Linked Thrombocytopenia;   X-linked thrombocytopenia 1;   XLT
 narrow_synonym: X-linked thrombocytopenia, intermittent
 primary_id: MESH:C564052
 alt_id: OMIM:313900


show annotations for term's descendants           Sort by:
Thrombocytopenia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human) RGD PMID:12200364 RGD:10450747 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Was WASP actin nucleation promoting factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 | ClinVar Annotator: match by term: Thrombocytopenia 1 | ClinVar Annotator: match by term: Thrombocytopenia, X-linked		 OMIM
CTD
ClinVar		 PMID:3284030 PMID:7579329 PMID:7753869 PMID:7795648 PMID:8528198 More... NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            X-linked monogenic disease 1369
              Thrombocytopenia 1 2
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Hemic and Lymphatic Diseases 3852
        hematopoietic system disease 3341
          blood coagulation disease 961
            hemorrhagic disease 915
              blood platelet disease 371
                thrombocytopenia 283
                  Thrombocytopenia 1 2
paths to the root