platelet-type bleeding disorder 18

Term ID

DOID:0111051

Synonyms

• BDPLT18
• bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
• bleeding disorder due to CalDAG-GEFI deficiency

Definition

A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/24958846

References

• ICD10CM:D69.1
• OMIM:615888
• ORDO:420566

Ontology

Human Disease   ( DOID:0111051 )