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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:GATA1-Related X-Linked Cytopenia
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Accession:EFO:MONDO:0100089 term browser browse the term
Definition:X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.
Synonyms:exact_synonym: GATA1-Related Cytopenia;   http://identifiers.org/medgen/335283;   http://linkedlifedata.com/resource/umls/id/C1845837
 alt_id: MONDO:0100089
 xref: MEDGEN:335283;   UMLS:C1845837


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          hematologic disease 0
            GATA1-Related X-Linked Cytopenia 0
              X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 0
              beta-thalassemia-X-linked thrombocytopenia syndrome 0
              thrombocytopenia with congenital dyserythropoietic anemia 0
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