platelet-type bleeding disorder 15

Summary

DOID:0111053 - platelet-type bleeding disorder 15

Disease Ontology Definition:A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q.

Synonyms: autosomal dominant macrothrombocytopenia ACTN1-related, BDPLT15

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

: actn1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014078 - platelet-type bleeding disorder 15

MONDO:0014078 - platelet-type bleeding disorder 15

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), blood platelet disease (is_a)