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| Term | congenital amegakaryocytic thrombocytopenia 1 | ID (Ontology) | DOID:0061005 (Human Disease) |
| 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. | ||
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autosomal recessive disease__ physical disorder____________| thrombocytopenia_____________| congenital amegakaryocytic thrombocytopenia |__congenital amegakaryocytic thrombocytopenia 1 |
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| Is a | congenital amegakaryocytic thrombocytopenia | ||
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| MIM:604498 | |||