Term Name: | congenital amegakaryocytic thrombocytopenia 1 |
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Synonyms: | |
Definition: | A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34. |
Ontology: | Human Disease [DOID:0061005] ( DOID:0061005 ) |