has material basis in germline mutation in MPL congenital hematological disorder congenital amegakaryocytic thrombocytopenia congenital amegakaryocytic thrombocytopenia 1 https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6622 https://rarediseases.info.nih.gov/diseases/640/congenital-amegakaryocytic-thrombocytopenia https://www.malacards.org/card/amegakaryocytic_thrombocytopenia_congenital_1 https://www.malacards.org/card/congenital_amegakaryocytic_thrombocytopenia MONDO:0800452 SCTID:716336002 MEDGEN:1845022 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. MESH:C535982 thrombocytopenia, congenital amegakaryocytic amegakaryocytic thrombocytopenia, congenital 1 GARD:0000640 CAMT1 thrombocytopenia congenital amegakaryocytic OMIM:604498 UMLS:C5882667 NCIT:C115207 DOID:0061005 Orphanet:3319 DOID:0090118