loading...| Preferred Name |
Bernard-Soulier syndrome |
|
| Synonyms |
Thrombozytendystrophie, hämorrhagische Distrofia trombocítica hemorrágica Dystrophie thrombocytaire hémorragipare Sindrome delle piastrine giganti Syndrome des plaquettes sanguines géantes Hemorrhagiparous thrombocytic dystrophy |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_796 |
|
| ageOfDeath |
Normal Normal Normal Normale Normal Normal Normal |
|
| ageOfOnset |
Variable Variabile Variabel Variable Variable Variável Variable |
|
| altLabel |
Thrombozytendystrophie, hämorrhagische Distrofia trombocítica hemorrágica Dystrophie thrombocytaire hémorragipare Sindrome delle piastrine giganti Syndrome des plaquettes sanguines géantes Hemorrhagiparous thrombocytic dystrophy Distrofia trombocítica hemorragípara Plaquetas gigantes, síndrome Riesen-Plättchen-Syndrom Distrofia trombocitica emorragipara Giant platelet syndrome Síndrome plaquetas gigantes |
|
| id_MedDRA |
10057473 |
|
| id_Medline | ||
| id_MeSH |
D001606 |
|
| id_MIM |
153670 231200 |
|
| id_OMS |
D69.1 |
|
| id_Orpha |
274 |
|
| id_SNOMEDCT |
54569005 |
|
| id_UMLS |
C0005129 |
|
| inheritance |
Autosómico recesivo Autosomal recessive Autosomal dominant Autosomique dominant Autossómica recessiva Autosomica recessiva Autosomal dominant Autosomica dominante Autosomal recessive Autosómico dominate Autosomal-dominant Autosomique récessif Autossómica dominante Autosomal-rezessiv |
|
| patType |
disease |
|
| prefixIRI |
hrdo:pat_id_796 |
|
| prefLabel |
Sindrome di Bernard-Soulier Síndrome de Bernard-Soulier Bernard-Soulier syndrome Syndrome de Bernard-Soulier Síndrome de Bernard-Soulier Bernard-Soulier-Syndrom |
|
| prevalence |
<1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 |
|
| subClassOf |