Summary Literature (0)

DOID:0111053 - platelet-type bleeding disorder 15

Disease Ontology Definition:An inherited blood coagulation 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: BDPLT15, autosomal dominant macrothrombocytopenia ACTN1-related,

Echinobase Genes :


OMIM:

MIM:615193 - bleeding disorder, platelet-type, 15; bdplt15

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee