Macrothrombocytopenia, isolated, 1, autosomal dominant

Definition

Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.

Also known as autosomal dominant macrothrombocytopenia caused by mutation in TUBB1, macrothrombocytopenia, autosomal dominant, TUBB1-related, MACTHC1, TUBB1 autosomal dominant macrothrombocytopenia — per MONDO

Also identified as

• DOID 0090102 per MONDO
• MESH C567747 per MONDO
• OMIM 613112 per MONDO
• UMLS C5676892 per MONDO