Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Impaired ristocetin-induced platelet aggregation
Always present (100%)HP:0011871
Bleeding tendency
Very frequent (80-99%)HP:0001892
Decreased platelet glycoprotein Ib-IX-V
Very frequent (80-99%)HP:0011879
Giant platelets
Very frequent (80-99%)HP:0001902
Macrothrombocytopenia
Very frequent (80-99%)HP:0040185
Gastrointestinal haemorrhage
Frequent (30-79%)HP:0002239
Hypermenorrhea
Frequent (30-79%)HP:0000132
Petechiae
Frequent (30-79%)HP:0000967
Prolonged bleeding after dental extraction
Frequent (30-79%)HP:0006298
Spontaneous hematomas
Frequent (30-79%)HP:0007420
Spontaneous, recurrent nosebleed
Frequent (30-79%)HP:0004406
Abnormal megakaryocyte morphology
Occasional (5-29%)HP:0012143
Bleeding gums
Occasional (5-29%)HP:0000225
Bruising susceptibility
Occasional (5-29%)HP:0000978
Hematemesis
Occasional (5-29%)HP:0002248
Macroscopic hematuria
Occasional (5-29%)HP:0012587
Protracted bleeding after surgery
Occasional (5-29%)HP:0004846
Bronchial asthma
Very rare (1-4%)HP:0002099
Epilepsy
Very rare (1-4%)HP:0001250
Migraine headache
Very rare (1-4%)HP:0002076
Partially duplicated kidney
Very rare (1-4%)HP:0008738
Increased bleeding time
HP:0003010
Nasal hemorrhage
HP:0000421
Red or purple spots on the skin
HP:0000979
Thrombocytopenia
HP:0001873
Quick Facts
- SNOMED CT
- 54569005
- UMLS CUI
- C0005129
- Fully Specified Name
- Bernard Soulier syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.