loading...| Preferred Name |
Bernard-Soulier syndrome |
|
| Synonyms |
Bernard - Soulier thrombopathy |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_2217 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
OMIM:231200 UMLS_CUI:C0005129 SNOMEDCT_US_2020_03_01:54569005 MESH:D001606 NCI:C84595 ORDO:274 |
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| has exact synonym |
Bernard - Soulier thrombopathy Thrombopathy, Bernard-Soulier Hemorrhagic dystrophic thrombocytopenia Giant platelet syndrome Bernard Soulier syndrome |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:2217 |
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| imported from | ||
| in_subset | ||
| label |
Bernard-Soulier syndrome |
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| notation |
DOID:2217 |
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| prefLabel |
Bernard-Soulier syndrome |
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| textual 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. |
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| subClassOf |
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