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Nail-patella syndrome
ORPHA:2614 · Malformation syndrome · Disorder
HPO 表現型（共 72 項）
Very frequent (99-80%)(2)
- Abnormal digit morphologyHP:0011297
- Abnormal nail morphologyHP:0001597
Frequent (79-30%)(15)
- Abnormal gastrointestinal tract morphologyHP:0012718
- Abnormal iris pigmentationHP:0008034
- Abnormality of the elbowHP:0009811
- Abnormality of the kidneyHP:0000077
- Abnormality of the kneeHP:0002815
- ArthritisHP:0001369
- Back painHP:0003418
- ConstipationHP:0002019
- Decreased muscle massHP:0003199
- Elbow flexion contractureHP:0002987
- Equinovarus deformityHP:0008110
- Fingernail dysplasiaHP:0100798
- Flexion contractureHP:0001371
- Iliac hornsHP:0009780
- Pes planusHP:0001763
Occasional (29-5%)(52)
- Abnormal cranial nerve physiologyHP:0031910
- Abnormal femur morphologyHP:0002823
- Abnormal patella morphologyHP:0003045
- Abnormal tibia morphologyHP:0002992
- Abnormality of the eyeHP:0000478
- Achilles tendon contractureHP:0001771
- AcroparesthesiaHP:0031006
- Antecubital pterygiumHP:0009760
- Clinodactyly of the 5th fingerHP:0004209
- Contracture of the distal interphalangeal joint of the fingersHP:0009697
- Cubitus valgusHP:0002967
- Dislocated radial headHP:0003083
- Enamel hypoplasiaHP:0006297
- HematuriaHP:0000790
- High anterior hairlineHP:0009890
- High foreheadHP:0000348
- Impaired pain sensationHP:0007328
- Impaired temperature sensationHP:0010829
- Knee flexion contractureHP:0006380
- Knee joint hypermobilityHP:0045086
- Knee painHP:0030839
- Lester's signHP:0009781
- Limited elbow extensionHP:0001377
- Limited pronation/supination of forearmHP:0006394
- Lumbar hyperlordosisHP:0002938
- NephritisHP:0000123
- Nephrotic syndromeHP:0000100
- Ocular hypertensionHP:0007906
- Open angle glaucomaHP:0012108
- Osteochondritis dissecansHP:0010886
- OsteoporosisHP:0000939
- Patellar aplasiaHP:0006443
- Patellar dislocationHP:0002999
- Patellar hypoplasiaHP:0003065
- Pectus excavatumHP:0000767
- Primary congenital glaucomaHP:0008007
- ProteinuriaHP:0000093
- Proximal finger joint hyperextensibilityHP:0005190
- Reduced bone mineral densityHP:0004349
- Renal insufficiencyHP:0000083
- ScoliosisHP:0002650
- SeizureHP:0001250
- SpondylolisthesisHP:0003302
- SpondylolysisHP:0003304
- Stage 5 chronic kidney diseaseHP:0003774
- Talipes calcaneovalgusHP:0001884
- Talipes calcaneovarusHP:0008124
- Talipes equinovalgusHP:0001772
- Talipes equinovarusHP:0001762
- Thickened glomerular basement membraneHP:0004722
- Tip-toe gaitHP:0030051
- Toenail dysplasiaHP:0100797
Very rare (<4-1%)(3)
- Abnormality of the vasculatureHP:0002597
- Coronary artery dissectionHP:0006702
- Internal carotid artery hypoplasiaHP:0005290