Overview
Blau syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal inflammatory response
Very frequent (80-99%)HP:0012647
Arthralgias
Very frequent (80-99%)HP:0002829
Corneal inflammation
Very frequent (80-99%)HP:0000491
Erythema
Very frequent (80-99%)HP:0010783
Intermittent generalized erythematous papular rash
Very frequent (80-99%)HP:0007432
Iridocyclitis
Very frequent (80-99%)HP:0001094
Joint swelling
Very frequent (80-99%)HP:0001386
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Melanoderma
Very frequent (80-99%)HP:0000953
Papules
Very frequent (80-99%)HP:0200034
Polyarticular arthritis
Very frequent (80-99%)HP:0005764
Posterior uveitis
Very frequent (80-99%)HP:0012123
Skin rash
Very frequent (80-99%)HP:0000988
Synovitis
Very frequent (80-99%)HP:0100769
Cataract
Frequent (30-79%)HP:0000518
Erythema nodosum
Frequent (30-79%)HP:0012219
Glaucoma
Frequent (30-79%)HP:0000501
Joint inflammation
Frequent (30-79%)HP:0001369
Photophobia
Frequent (30-79%)HP:0000613
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Pyrexia
Frequent (30-79%)HP:0001945
Uveitis
Frequent (30-79%)HP:0000554
Xerosis
Frequent (30-79%)HP:0000958
Abnormality of retina blood vessels
Occasional (5-29%)HP:0008046
Abnormality of the choroid
Occasional (5-29%)HP:0000610
Abnormality of the cranial nerves
Occasional (5-29%)HP:0001291
Abnormality of the salivary glands
Occasional (5-29%)HP:0010286
Aortic aneurysm
Occasional (5-29%)HP:0004942
Clear cell renal cell carcinoma
Occasional (5-29%)HP:0006770
End-stage renal disease
Occasional (5-29%)HP:0003774
Quick Facts
- SNOMED CT
- 818950005
- UMLS CUI
- C5201146
- Fully Specified Name
- Blau syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.