loading...| Preferred Name |
Bernard-Soulier syndrome |
| Synonyms |
Giant platelet syndrome |
| Definitions |
A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_2217 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
MESH:D001606 NCI:C84595 SNOMEDCT_US_2022_09_01:54569005 UMLS_CUI:C0005129 ORDO:274 OMIM:231200 |
| definition |
A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. |
| has exact synonym |
Giant platelet syndrome Bernard - Soulier thrombopathy Bernard Soulier syndrome Thrombopathy, Bernard-Soulier Hemorrhagic dystrophic thrombocytopenia |
| has material basis in | |
| has symptom | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:2217 |
| in_subset | |
| label |
Bernard-Soulier syndrome |
| notation |
DOID:2217 |
| prefLabel |
Bernard-Soulier syndrome |
| subClassOf |