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Task A-003 · Type A — Disease → phenotype

What clinical and physical signs characterize alkaptonuria (ochronosis)?

Difficulty
easy
Rarity stratum
sparse
Evidence type
review/case_report consensus
MONDO ID
MONDO:0008753
Curator notes

None material — phenotype description (dark urine, ochronotic pigmentation, joint degeneration) is highly consistent across the corpus's 21 AKU documents.

Generation outcome

Abstained
No
Abstention correct
Yes
Gold in retrieved
1.00
Generation cost
$0.000505
Claims
8
Supported
8
Contradicted
0
Unverifiable
0

Gold documents (3)

  • Alkaptonuria.
    pubmed:38453957retrieved ✓source
  • Alkaptonuria.
    pubmed:21163157not retrievedsource
  • Ochronotic Chondropathy: A Case Report.
    pubmed:37892999not retrievedsource

Retrieved documents (6)

  • Alkaptonuria--case report.
    pubmed:25184921
  • Adequacy of nitisinone for the management of alkaptonuria.
    pubmed:36045846
  • Alkaptonuria.
    pubmed:20229718
  • Alkaptonuria.
    pubmed:25003018
  • Alkaptonuria.
    pubmed:38453957gold
  • [Ochronosis: A case report].
    pubmed:35659777

Generated claims (8)

supportedconfidence 0.90

Alkaptonuria is characterized by dark brown urine due to homogentisic acid accumulation.

pubmed:20229718pubmed:25003018
supportedconfidence 0.90

Ochronosis involves pigment deposition in collagen-rich connective tissues.

pubmed:20229718pubmed:38453957
supportedconfidence 0.90

Severe spondylosis, peripheral arthropathy, tendon rupture, bone osteoporosis, and aortic valve stenosis are features of alkaptonuria.

pubmed:20229718
supportedconfidence 0.80

Skin pigmentation and joint destruction result in ochronosis.

pubmed:36045846
supportedconfidence 0.90

Lumbar lordosis loss, lumbar spinal stiffness, and knee joint limitations of range of motion are associated with alkaptonuria.

pubmed:35659777
supportedconfidence 0.90

Bluish coloration of ear pavilions and eye angles is observed in ochronosis.

pubmed:35659777
supportedconfidence 0.90

Extensive lumbar disc calcifications, vacuum discal phenomenon, and osteophytic bridges are radiographic findings in ochronosis.

pubmed:35659777
supportedconfidence 0.90

Kidney and prostate stones, bone fractures, and tendon, ligament, and/or muscle ruptures are other clinical manifestations.

pubmed:38453957