autosomal dominant isolated macrothrombocytopenia 1

Term ID

DOID:0090102

Synonyms

• MACTHC1

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. (3)

References

• ICD10CM:D69.4
• MIM:613112
• ORDO:140957

Ontology

Human Disease   ( DOID:0090102 )