Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal dominant thrombocytopenia with platelet secretion defect [EXACT] BDPLT20 [EXACT] |
Parent Relationships |