loading...| Preferred Name |
Bernard-Soulier syndrome |
|
| Synonyms |
Bernard-Soulier syndrome Hemorrhagiparous thrombocytic dystrophy thrombopathy, Bernard-Soulier giant platelet syndrome Bernard Soulier syndrome giant platelet disorder, isolated Bernard-Soulier syndrome, type A1 (recessive) hemorrhagic dystrophic thrombocytopenia Bernard - Soulier thrombopathy glycoprotein Ib, Platelet, deficiency of Bernard-Soulier syndrome, type C Bernard-Soulier syndrome, type B Platelet glycoprotein 1b, deficiency of macrothrombocytopenia, familial Bernard-Soulier type Bernard-Soulier syndrome, type A1 Von Willebrand Factor receptor deficiency deficiency of platelet glycoprotein 1b giant platelet disease bleeding disorder, Platelet-type, 1 BSS Platelet glycoprotein Ib deficiency |
|
| Definitions |
Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009276 |
|
| has_exact_synonym |
Bernard-Soulier syndrome Hemorrhagiparous thrombocytic dystrophy thrombopathy, Bernard-Soulier giant platelet syndrome Bernard Soulier syndrome giant platelet disorder, isolated Bernard-Soulier syndrome, type A1 (recessive) hemorrhagic dystrophic thrombocytopenia Bernard - Soulier thrombopathy |
|
| has_related_synonym |
glycoprotein Ib, Platelet, deficiency of Bernard-Soulier syndrome, type C Bernard-Soulier syndrome, type B Platelet glycoprotein 1b, deficiency of macrothrombocytopenia, familial Bernard-Soulier type Bernard-Soulier syndrome, type A1 Von Willebrand Factor receptor deficiency deficiency of platelet glycoprotein 1b giant platelet disease bleeding disorder, Platelet-type, 1 BSS Platelet glycoprotein Ib deficiency |
|
| IAO_0000233 | ||
| label |
Bernard-Soulier syndrome |
|
| prefixIRI |
MONDO:0009276 |
|
| prefLabel |
Bernard-Soulier syndrome |
|
| textual definition |
Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000009 |