platelet-type bleeding disorder 22

Term ID

DOID:0061329

Synonyms

• BDPLT22

Definition

A blood platelet disease characterized by impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries and that has_material_basis_in homozygous mutation in the EPHB2 gene on chromosome 1p36.12. https://pubmed.ncbi.nlm.nih.gov/30213874/

References

• MIM:618462

Ontology

Human Disease   ( DOID:0061329 )