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loading...| Preferred Name |
Bernard-Soulier syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_274 |
| alternative_term |
Giant platelet syndrome Hemorrhagiparous thrombocytic dystrophy |
| 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 |
MedDRA:10057473 ICD-10:D69.1 MeSH:D001606 ICD-11:3B62.01 OMIM:153670 UMLS:C0005129 OMIM:231200 |
| label |
Bernard-Soulier syndrome |
| notation |
ORPHA:274 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_274 |
| prefLabel |
Bernard-Soulier syndrome |
| present_in |
Worldwide AND has_cases/families_value : 100.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView | |
| subClassOf |
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