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Metadata
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/
Xrefs

MIM:604498

Parent Relationships

is_a congenital amegakaryocytic thrombocytopenia

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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