congenital amegakaryocytic thrombocytopenia 1
A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is 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.
MONDO:0009332
congenital hematological disorder
is_a
MONDO:0800451
congenital amegakaryocytic thrombocytopenia
is_a
CAMT1
exact
amegakaryocytic thrombocytopenia, congenital 1
exact
thrombocytopenia congenital amegakaryocytic
related
thrombocytopenia, congenital amegakaryocytic
exact