Disease association ontology term - MONDO:0800047 - macrothrombocytopenia, isolated, 1, autosomal dominant
Term summary
- ID
- MONDO:0800047
- Name
- macrothrombocytopenia, isolated, 1, autosomal dominant
- Ontology or CV name
- Disease association
- Definition
- Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.
