autosomal dominant isolated macrothrombocytopenia 2

Term ID

DOID:0060995

Synonyms

• MACTHC2

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/

References

• MIM:619840

Ontology

Human Disease   ( DOID:0060995 )