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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 with beta-thalassemia
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Accession:DOID:0111767 term browser browse the term
Definition:A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of GATA1 on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis;   XLTT;   beta-thalassemia-X-linked thrombocytopenia syndrome
 primary_id: MESH:C564050
 alt_id: OMIM:314050
 xref: NCI:C134941;   ORDO:231393
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked thrombocytopenia with beta-thalassemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by OMIM:314050
ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
OMIM
ClinVar
PMID:871527 PMID:2200364 PMID:3521939 PMID:10733494 PMID:12200364 PMID:14691578 PMID:15701726 PMID:17148589 PMID:17209061 PMID:17881640 PMID:19172521 PMID:19268002 PMID:23704091 PMID:25741868 PMID:28492532 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
Ensembl chr  X:15,378,789...15,382,066
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Pathological Conditions, Signs and Symptoms 10186
      Pathologic Processes 6666
        Hemolysis 9
          X-linked thrombocytopenia with beta-thalassemia 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      Hemic and Lymphatic Diseases 2217
        hematopoietic system disease 1797
          anemia 427
            normocytic anemia 200
              hemolytic anemia 200
                congenital hemolytic anemia 153
                  hemoglobinopathy 118
                    thalassemia 87
                      beta thalassemia 35
                        X-linked thrombocytopenia with beta-thalassemia 1
paths to the root