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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 xref: GARD:640;   NCI:C115207;   ORDO:3319
For additional species annotation, visit the Alliance of Genome Resources.

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital amegakaryocytic thrombocytopenia 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          blood coagulation disease 831
            hemorrhagic disease 800
              blood platelet disease 313
                thrombocytopenia 239
                  congenital amegakaryocytic thrombocytopenia 1
paths to the root