Term Name: | congenital amegakaryocytic thrombocytopenia 2 |
---|---|
Synonyms: | |
Definition: | A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27. |
Ontology: | Human Disease [DOID:0061002] ( DOID:0061002 ) |