loading...| Preferred Name |
Bernard-Soulier Syndrome |
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| Synonyms |
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| Definitions |
An inherited 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://www.phoc.org.cn/pmo/class/PMO_00037370 |
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| Database_Cross_Reference |
MTH:NOCODE DO:DOID:2217 DRUGBANK:DB09154 RCD:X20F4 MDR:10057473 DRUGBANK:DB00761 DRUGBANK:DB09153 DRUGBANK:DB09395 SNOMEDCT_US:191309003 NDFRT:N0000000541 OMIM:231200 SNMI:DC-61910 CSP:4001-0130 NCI:C84595 MSH:D001606 CHV:0000001812 DRUGBANK:DB01164 MTHICD9:287.1 DRUGBANK:DB09407 SNOMEDCT_US:234478007 MEDCIN:30308 SNM:D-4564 SNOMEDCT_US:54569005 RCD:X20Et |
|
| Definition |
An inherited 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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| label |
Bernard-Soulier Syndrome |
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| MCID |
MC00001623 |
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| PMOID |
PMO:00037370 |
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| prefixIRI |
pmo:PMO_00037370 |
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| prefLabel |
Bernard-Soulier Syndrome |
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| Synonym |
Giant Platelet Syndrome Syndromes, Giant Platelet Giant platelet syndrome Thrombopathy, Bernard-Soulier Bernard-Soulier syndrome Bernard-Soulier Syndrome [Disease/Finding] giant platelet syndrome BERNARD-SOULIER SYNDROME Bernard Soulier syndrome Thrombocytopenia-prolonged bleeding time-giant platelet syndrome Syndrome, Giant Platelet Platelet Syndromes, Giant Bernard Soulier syndrome (disorder) Bernard Soulier Syndrome Syndrome, Bernard-Soulier Bernard-Soulier thrombopathy Hemorrhagic dystrophic thrombocytopenia Bernard Soulier syndrome (diagnosis) Giant platelet syndrome (disorder) bernard soulier syndrome BSS bernard-soulier syndrome Bernard - Soulier thrombopathy Bss |
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| Tree Number |
T9.5.2.5.1 T9.5.2.12.4 T9.8.4.5.3 T9.5.2.14.9.3 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036573 |