# autosomal dominant macrothrombocytopenia TUBB1-related

> thrombocytopenia characterized by autosomal dominant inheritance of macrothrombocytopenia with normal platelet aggregation that has material basis in mutation in the TUBB1 gene on chromosome 20q13.3

**Wikidata**: [Q30990007](https://www.wikidata.org/wiki/Q30990007)  
**Source**: https://4ort.xyz/entity/autosomal-dominant-macrothrombocytopenia-tubb1-related


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dbf068c4-8e07-4861-8eee-8e7d9572b122-2019-10-23T160000.000Z)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)