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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 that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) 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
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      hematopoietic system disease 1595
        hemorrhagic disease 590
          blood platelet disease 272
            thrombocytopenia 209
              congenital amegakaryocytic thrombocytopenia 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      Hemic and Lymphatic Diseases 1996
        hematopoietic system disease 1595
          blood coagulation disease 603
            hemorrhagic disease 590
              blood platelet disease 272
                thrombocytopenia 209
                  congenital amegakaryocytic thrombocytopenia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.