Human genes for congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia [DOID:0090118]
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.
Synonyms: congenital amegakaryocytic thrombocytopenia, congenital amegakaryocytic thrombocytopenias, DOID:0090118, CAMT, congenital amegakaryocytic thrombocytopenic purpura ...