Term Name: | congenital amegakaryocytic thrombocytopenia |
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Synonyms: | CAMT, congenital amegakaryocytic thrombocytopenic purpura |
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. |
Ontology: | Human Disease [DOID:0090118] ( DOID:0090118 ) |