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ONTOLOGY REPORT - ANNOTATIONS


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;   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
RGD:8554872

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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          congenital amegakaryocytic thrombocytopenia 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Hemic and Lymphatic Diseases 1573
        hematopoietic system disease 1355
          blood coagulation disease 389
            hemorrhagic disease 375
              blood platelet disease 192
                thrombocytopenia 128
                  congenital amegakaryocytic thrombocytopenia 1
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