| Metadata | |
|---|---|
| ID | DOID:0111049 |
| Name | platelet-type bleeding disorder 17 |
| Definition | A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/24325358, https://www.ncbi.nlm.nih.gov/pubmed/5681484 |
| Xrefs |
SNOMEDCT_US_2023_03_01:51720005 |
| Subsets |
NCIthesaurus |
| Synonyms |
BDPLT17 [EXACT] hereditary thrombasthenia-thrombocytopenia [EXACT] |
| Parent Relationships |