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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 OMIM
ClinVar
PMID:871527, PMID:2200364, PMID:3521939, PMID:10733494, PMID:12200364, PMID:14691578, PMID:15701726, PMID:17148589, PMID:17209061, PMID:17881640, PMID:19268002, PMID:23704091 NCBI chr  X:15,273,937...15,281,759
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 16058
    Pathological Conditions, Signs and Symptoms 8739
      Pathologic Processes 6124
        Hemolysis 8
          X-linked thrombocytopenia with beta-thalassemia 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          anemia 409
            normocytic anemia 178
              hemolytic anemia 178
                congenital hemolytic anemia 134
                  hemoglobinopathy 100
                    thalassemia 69
                      beta thalassemia 34
                        X-linked thrombocytopenia with beta-thalassemia 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.