macrothrombocytopenia, isolated, 1, autosomal dominant
Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.
MONDO:0015372
autosomal dominant macrothrombocytopenia
is_a
MONDO:0031447
macrothrombocytopenia, isolated
is_a
MACTHC1
exact
TUBB1 autosomal dominant macrothrombocytopenia
exact
autosomal dominant macrothrombocytopenia caused by mutation in TUBB1
exact
macrothrombocytopenia, autosomal dominant, TUBB1-related
exact
SPBC26H8.07c