Term Name: | platelet-type bleeding disorder 18 |
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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. |
Ontology: | Human Disease [DOID:0111051] ( DOID:0111051 ) |