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Human Disease

platelet-type bleeding disorder 20

Term ID
DOID:0111055
Synonyms
  • autosomal dominant thrombocytopenia with platelet secretion defect
  • BDPLT20
Definition
A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. (2)
References
Ontology
Human Disease   ( DOID:0111055 )
Relationships
is a type of
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Genes Involved
Zebrafish Models