| Metadata | |
|---|---|
| ID | DOID:0111051 |
| Name | platelet-type bleeding disorder 18 |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
BDPLT18 [EXACT] bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency [EXACT] bleeding disorder due to CalDAG-GEFI deficiency [EXACT] |
| Parent Relationships |