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Task A-001 · Type A — Disease → phenotype
What is the characteristic clinical phenotype of fibrodysplasia ossificans progressiva?
Difficulty
easy
Rarity stratum
sparse
Evidence type
review/case_report consensus across multiple sources
MONDO ID
MONDO:0007606
Curator notes
Curator-read gold set; corpus contains 24 FOP documents, most restate the same core phenotype (congenital great-toe malformation + progressive heterotopic ossification) so many additional documents would also be acceptable evidence, not just the three listed.
Generation outcome
Abstained
No
Abstention correct
Yes
Gold in retrieved
1.00
Generation cost
$0.000383
Claims
4
Supported
4
Contradicted
0
Unverifiable
0
Gold documents (3)
- Medical guidelines for fibrodysplasia ossificans progressiva.
- Fibrodysplasia ossificans progressiva.
- Fibrodysplasia ossificans progressiva.
Retrieved documents (6)
- Fibrodysplasia Ossificans Progressiva.pubmed:26876407
- PET/CT of fibrodysplasia ossificans progressiva.pubmed:19444439
- Fibrodysplasia ossificans progressiva: Two case reports.pubmed:38737178
- Fibrodysplasia ossificans progressiva (stone man syndrome): a case report.pubmed:31785620
- Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.pubmed:34440363
- Medical guidelines for fibrodysplasia ossificans progressiva.pubmed:41143155gold
Generated claims (4)
supportedconfidence 1.00
The characteristic clinical phenotype of FOP includes congenital bilateral hallux valgus malformation.
pubmed:34440363
supportedconfidence 1.00
Early-onset heterotopic ossification is a typical feature of FOP.
pubmed:34440363
supportedconfidence 1.00
Painful, recurrent soft-tissue swellings (flare-ups) precede localized heterotopic ossification in FOP.
pubmed:34440363
supportedconfidence 1.00
Heterotopic ossification in FOP typically affects regions near the axial skeleton and later progresses to the appendicular bones.
pubmed:34440363