| Metadata | |
|---|---|
| ID | DOID:0061332 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061332 Copy |
| Name | Glanzmann thrombasthenia 2 |
| Definition | A blood platelet disease characterized by failure of platelet aggregation and by absent or diminished clot retraction and that has_material_basis_in homozygous or compound heterozygous mutation in the ITGB3 gene, which encodes platelet glycoprotein IIIa, on chromosome 17q21.32. https://pubmed.ncbi.nlm.nih.gov/9160670/ |
| Xrefs | |
| SKOS |
narrowMatch ORDO:849 narrowMatch GARD:2478 narrowMatch UMLS_CUI:C0040015 |
| Subsets |
DO_rare_slim |
| Synonyms |
BDPLT23 [EXACT] GT2 [EXACT] platelet-type bleeding disorder 23 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |