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

Disease Ontology Definition:A thrombocytopenia characterized by autosomal dominant inheritance of macrothrombocytopenia with normal platelet aggregation that has material_basis_in mutation in the TUBB1 gene on chromosome 20q13.3.

Synonyms:

Echinobase Genes :



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

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