| 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/26769223, https://www.ncbi.nlm.nih.gov/pubmed/26280575 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant thrombocytopenia with platelet secretion defect [EXACT] BDPLT20 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some bleeding has material basis in some autosomal dominant inheritance |