OBO ID: DOID:0111055
Term Name: platelet-type bleeding disorder 20 Search Ontology:
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:
OTHER platelet-type bleeding disorder 20 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLFN14 Bleeding disorder, platelet-type, 20
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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