Term Name:	autosomal dominant isolated macrothrombocytopenia 2
Synonyms:	MACTHC2
Definition:	A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11.
Ontology:	Human Disease [DOID:0060995]   ( DOID:0060995 )