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Metadata
ID DOID:0111055
Name platelet-type bleeding disorder 20
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.
https://www.ncbi.nlm.nih.gov/pubmed/26280575, https://www.ncbi.nlm.nih.gov/pubmed/26769223
Xrefs

OMIM:616913

ORDO:466806

Subsets

DO_rare_slim

Synonyms

autosomal dominant thrombocytopenia with platelet secretion defect [EXACT]

BDPLT20 [EXACT]

Parent Relationships

is_a blood platelet disease

is_a autosomal dominant disease

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