Search Ontology:
Human Disease
platelet-type bleeding disorder 20
- Term ID
- DOID:0111055
- Synonyms
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- 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
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- MIM:616913
- ORDO:466806
- Ontology
- Human Disease ( DOID:0111055 )
- is a type of
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Zebrafish Models