Bernard-Soulier Syndrome
Disease ID: disease_node_1515
Connections displayed (default: 10).
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| Dbxref | MESH:D001606, MIM:231200, NCI:C84595, ORDO:274, SNOMEDCT_US_2023_03_01:54569005, UMLS_CUI:C0005129 |
|---|---|
| Subclassof | DOID_0050737, DOID_1247 |
| Data Source | DOID, MESH |
| Synonyms | Bernard - Soulier thrombopathy, Bernard Soulier syndrome, Giant platelet syndrome, Hemorrhagic dystrophic thrombocytopenia, Thrombopathy, Bernard-Soulier |
| Mesh Id | D001606 |
| Mesh Label | Bernard-Soulier Syndrome |
| Mesh Subclassof | D001791, D025861, D006474 |
| Doid Label | Bernard-Soulier syndrome |
| Doid Description | A 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. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000007 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_1515 |
| Doid Id | DOID_2217 |
| Label | Bernard-Soulier Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Bleeding(ID:disease_node_21108) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Bernard-Soulier Syndrome Type A2(ID:disease_node_17066) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Blood Coagulation Disorders(ID:disease_node_1621) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)