platelet-type bleeding disorder 15

Term ID

DOID:0111053

Synonyms

• autosomal dominant macrothrombocytopenia ACTN1-related
• BDPLT15

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. https://www.ncbi.nlm.nih.gov/pubmed/23434115

References

• OMIM:615193

Ontology

Human Disease   ( DOID:0111053 )