Mondo Description Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.

Uniprot Description Disease characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies.

Disease Ontology Description A thrombocytopenia characterized by a severe reduction in megakaryocyte and platelet numbers that has_material_basis_in homozygous or compound heterozygous mutation in the MPL gene on chromosome 1p34.