|OBO ID: DOID:0090118|
|Term Name:||congenital amegakaryocytic thrombocytopenia||Search Ontology:|
|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. (3)|
|Ontology:||Human Disease (DOID:0090118)|
|is a type of:||
OTHER congenital amegakaryocytic thrombocytopenia PAGES
PHENOTYPE No data available
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