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Summary Literature (0)
DOID:0090102 - autosomal dominant macrothrombocytopenia TUBB1-related

Disease Ontology 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.

Synonyms:

Xenbase Genes :

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013141 - obsolete autosomal dominant macrothrombocytopenia TUBB1-related


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), thrombocytopenia (is_a)