autosomal dominant isolated macrothrombocytopenia 1

Summary

DOID:0090102 - autosomal dominant isolated macrothrombocytopenia 1

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: MACTHC1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tubb1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013141 - obsolete autosomal dominant macrothrombocytopenia TUBB1-related

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)