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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:thrombocytopenia, X-linked, with or without dyserythropoietic anemia
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Accession:EFO:MONDO:0010308 term browser browse the term
Definition:An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.
Synonyms:exact_synonym: X-linked thrombocytopenia, with or without dyserythropoietic Anaemia;   thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive
 related_synonym: XLTDA
 alt_id: MONDO:0010308
 xref: MEDGEN:763703;   MIM:300367;   NCI:C136653;   UMLS:C3550789


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inherited thrombocytopenia 0
              thrombocytopenia, X-linked, with or without dyserythropoietic anemia 0
                thrombocytopenia with congenital dyserythropoietic anemia 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          hematologic disease 0
            blood platelet disease 0
              inherited thrombocytopenia 0
                thrombocytopenia, X-linked, with or without dyserythropoietic anemia 0
                  thrombocytopenia with congenital dyserythropoietic anemia 0
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