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Term:congenital amegakaryocytic thrombocytopenia
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Accession:DOID:0090118 term browser browse the term
Definition:A thrombocytopenia characterized by a severe reduction in megakaryocyte and platelet numbers that has_material_basis_in homozygous or compound heterozygous mutation in the MPL gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: CAMT;   congenital amegakaryocytic thrombocytopenic purpura
 primary_id: MESH:C535982
 alt_id: OMIM:604498;   RDO:0001376
 xref: GARD:640;   NCI:C115207;   ORDO:3319
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congenital amegakaryocytic thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpl MPL proto-oncogene, thrombopoietin receptor JBrowse link 5 137,268,412 137,282,032 RGD:7240710

Term paths to the root
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Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          congenital amegakaryocytic thrombocytopenia 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      Hemic and Lymphatic Diseases 1579
        hematopoietic system disease 1366
          blood coagulation disease 387
            hemorrhagic disease 373
              blood platelet disease 192
                thrombocytopenia 129
                  congenital amegakaryocytic thrombocytopenia 1
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