congenital amegakaryocytic thrombocytopenia (DOID:0090118)
Alliance: disease page
Synonyms: CAMT; congenital amegakaryocytic thrombocytopenic purpura
Alt IDs: OMIM:604498, MESH:C535982, NCI:C115207, ORDO:3319, UMLS_CUI:C1327915
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.