loading...| Preferred Name |
Bernard-Soulier syndrome |
|
| Synonyms |
Bernard - Soulier thrombopathy Bernard Soulier syndrome |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_2217 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
OMIM:231200 UMLS_CUI:C0005129 MESH:D001606 SNOMEDCT_US_2023_03_01:54569005 NCI:C84595 ORDO:274 |
|
| 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 |
Bernard - Soulier thrombopathy Thrombopathy, Bernard-Soulier Hemorrhagic dystrophic thrombocytopenia Giant platelet syndrome Bernard Soulier syndrome |
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| 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 |