Term Name: congenital amegakaryocytic thrombocytopenia 1
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 )

Relationships
is a type of: congenital amegakaryocytic thrombocytopenia