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autosomal dominant macrothrombocytopenia TUBB1-related (DOID:0090102)
Alliance: disease page
Alt IDs: OMIM:613112, ICD10CM:D69.4, ORDO:140957
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/08/2020
MGI 6.15
The Jackson Laboratory