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ID | DOID:0061005 |
Name | congenital amegakaryocytic thrombocytopenia 1 |
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. https://pubmed.ncbi.nlm.nih.gov/16351641/ |
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Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |