| Metadata | |
|---|---|
| ID | DOID:0060995 |
| Name | autosomal dominant isolated macrothrombocytopenia 2 |
| Definition | A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11. https://pubmed.ncbi.nlm.nih.gov/34704371/ |
| Xrefs | |
| Synonyms |
MACTHC2 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a thrombocytopenia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |