| Metadata | |
|---|---|
| ID | DOID:0061328 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061328 Copy |
| Name | platelet-type bleeding disorder 21 |
| Definition | A blood platelet disease characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists and that has_material_basis_in heterozygous mutation in the FLI1 gene on chromosome 11q24.3. https://pubmed.ncbi.nlm.nih.gov/28255014/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
BDPLT21 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |