Term Name:	autosomal dominant isolated macrothrombocytopenia 1
Synonyms:	MACTHC1
Definition:	A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3.
Ontology:	Human Disease [DOID:0090102]   ( DOID:0090102 )