loading...| Preferred Name |
Bernard-Soulier syndrome |
|
| Synonyms |
Hemorrhagiparous thrombocytic dystrophy |
|
| Definitions |
A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_274 |
|
| alternative_term |
Hemorrhagiparous thrombocytic dystrophy Giant platelet syndrome |
|
| definition |
A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=274 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
OMIM:231200 UMLS:C0005129 MedDRA:10057473 ICD-10:D69.1 ICD-11:3B62.01 OMIM:153670 MeSH:D001606 |
|
| label |
Bernard-Soulier syndrome |
|
| notation |
ORPHA:274 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_274 |
|
| prefLabel |
Bernard-Soulier syndrome |
|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 100.0 (Case) |
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| treeView | ||
| subClassOf |