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Task A-004 · Type A — Disease → phenotype
What organ systems and clinical signs are affected in classic Fabry disease?
Difficulty
medium
Rarity stratum
high
Evidence type
review + case_report
MONDO ID
MONDO:0010526
Curator notes
The v0 corpus sample for Fabry disease is skewed toward cardiology sub-topics (echocardiography, cardiomyopathy — see research/limitations.md) because it was pulled by PubMed relevance ranking, not stratified by sub-topic; a system relying only on this corpus may under-report non-cardiac manifestations (renal, neurological, dermatological) relative to their true clinical importance.
Generation outcome
Abstained
No
Abstention correct
Yes
Gold in retrieved
1.00
Generation cost
$0.000439
Claims
5
Supported
1
Contradicted
4
Unverifiable
0
Gold documents (2)
- Treatment of Anderson-Fabry Disease.
- [Not Available].
Retrieved documents (6)
- Treatment of Anderson-Fabry Disease.pubmed:32183665gold
- [Fabry disease].pubmed:28104284
- Fabry disease.pubmed:23931807
- Biomarkers in Anderson-Fabry Disease.pubmed:33138098
- Multimodality imaging assessment of cardiac involvement in classic and late-onset Anderson-Fabry disease.pubmed:41354155
- Cardiac magnetic resonance in Fabry disease.pubmed:37125302
Generated claims (5)
supportedconfidence 0.95
Classic Fabry disease affects the cardiovascular system.
pubmed:41354155pubmed:37125302
contradictedconfidence 0.90
Classic Fabry disease affects the neurological system.
pubmed:23931807pubmed:41354155
contradictedconfidence 0.85
Classic Fabry disease affects the renal system.
pubmed:32183665pubmed:41354155
contradictedconfidence 0.80
Classic Fabry disease affects the gastrointestinal system.
pubmed:41354155
contradictedconfidence 0.95
Classic Fabry disease affects the cutaneous system.
pubmed:41354155pubmed:28104284