| Metadata | |
|---|---|
| ID | DOID:0061330 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061330 Copy |
| Name | platelet-type bleeding disorder 24 |
| Definition | A blood platelet disease characterized by an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis and that has_material_basis_in heterozygous mutation in the ITGB3 gene, which encodes platelet glycoprotein alpha-III, on chromosome 17q21.32. https://pubmed.ncbi.nlm.nih.gov/22102273/, https://pubmed.ncbi.nlm.nih.gov/21454453/ |
| Xrefs | |
| SKOS |
narrowMatch ORDO:140957 narrowMatch UMLS_CUI:C4304021 |
| Subsets |
DO_rare_slim |
| Synonyms |
BDPLT24 [EXACT] glanzmann thrombasthenia-like with macrothrombocytopenia 2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |