OBO ID: DOID:0111051
Term Name: platelet-type bleeding disorder 18 Search Ontology:
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)
OTHER platelet-type bleeding disorder 18 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RASGRP2 ?Bleeding disorder, platelet-type, 18 615888
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None