| Metadata | |
|---|---|
| ID | DOID:0090102 |
| Name | autosomal dominant isolated macrothrombocytopenia 1 |
| Definition | A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. https://www.ncbi.nlm.nih.gov/pubmed/27291889, https://www.omim.org/entry/613112, https://www.ncbi.nlm.nih.gov/pubmed/27905099 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
MACTHC1 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a thrombocytopenia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |