Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111051 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models