has material basis in germline mutation in TUBB1 autosomal dominant macrothrombocytopenia macrothrombocytopenia, isolated macrothrombocytopenia, isolated, 1, autosomal dominant https://www.malacards.org/card/macrothrombocytopenia_isolated_1_autosomal_dominant MACTHC1 MESH:C567747 DOID:0090102 Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene. macrothrombocytopenia, autosomal dominant, TUBB1-related GARD:0018271 MONDO:0800047 autosomal dominant macrothrombocytopenia caused by mutation in TUBB1 OMIM:613112 MEDGEN:1811721 TUBB1 autosomal dominant macrothrombocytopenia UMLS:C5676892