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Cranio-osteoarthropathy
ORPHA:1525 · Malformation syndrome · Disorder
HPO 表現型(共 14 項)
Very frequent (99-80%)(4)
- Abnormal cortical bone morphologyHP:0003103
- Abnormal skull morphologyHP:0000929
- Large fontanellesHP:0000239
- Mottled pigmentationHP:0001070
Frequent (79-30%)(8)
- Abnormal tibia morphologyHP:0002992
- Abnormality of the kneeHP:0002815
- ArthralgiaHP:0002829
- ArthritisHP:0001369
- Clubbing of toesHP:0100760
- Joint stiffnessHP:0001387
- Joint swellingHP:0001386
- OsteoarthritisHP:0002758
Occasional (29-5%)(2)
- Deviation of fingerHP:0004097
- Eczematoid dermatitisHP:0000964