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Proteus syndrome
ORPHA:744 · Malformation syndrome · Disorder
HPO 表現型（共 115 項）
Very frequent (99-80%)(27)
- Abnormal finger morphologyHP:0001167
- Abnormal skin pigmentationHP:0001000
- Abnormal subcutaneous fat tissue distributionHP:0007552
- Abnormal vertebral body morphologyHP:0003312
- Arteriovenous malformationHP:0100026
- Asymmetric growthHP:0100555
- Asymmetry of the thoraxHP:0001555
- CachexiaHP:0004326
- Capillary hemangiomaHP:0005306
- Cranial hyperostosisHP:0004437
- Decreased muscle massHP:0003199
- Disproportionate tall statureHP:0001519
- Epidermal nevusHP:0010816
- Irregular hyperpigmentationHP:0007400
- KyphosisHP:0002808
- LipomaHP:0012032
- Lower limb asymmetryHP:0100559
- LymphangiomaHP:0100764
- MacrodactylyHP:0004099
- Melanocytic nevusHP:0000995
- OvergrowthHP:0001548
- ScoliosisHP:0002650
- Skeletal dysplasiaHP:0002652
- Subcutaneous noduleHP:0001482
- Thickened skinHP:0001072
- Upper limb asymmetryHP:0100560
- Vascular skin abnormalityHP:0011276
Frequent (79-30%)(25)
- Abnormal lung lobationHP:0002101
- Bronchogenic cystHP:0100730
- Calvarial hyperostosisHP:0004490
- Capillary malformationHP:0025104
- Cerebriform connective tissue nevusHP:6000009
- DolichocephalyHP:0000268
- Exostosis of the external auditory canalHP:0004459
- Finger syndactylyHP:0006101
- Generalized hyperkeratosisHP:0005595
- HamartomaHP:0010566
- HyperostosisHP:0100774
- HypertelorismHP:0000316
- LipodystrophyHP:0009125
- LymphedemaHP:0001004
- MacrotiaHP:0000400
- Multiple cafe-au-lait spotsHP:0007565
- Pulmonary bullaHP:0032446
- Pulmonary cystHP:0032445
- Pulmonary embolismHP:0002204
- Rib exostosesHP:0000896
- Round faceHP:0000311
- ThrombophlebitisHP:0004418
- Venous malformationHP:0012721
- Verrucous epidermal nevusHP:0034275
- Visceral angiomatosisHP:0100761
Occasional (29-5%)(63)
- Abnormal cardiovascular system morphologyHP:0030680
- Abnormal dental enamel morphologyHP:0000682
- Abnormal metacarpal morphologyHP:0005916
- Abnormal nail morphologyHP:0001597
- Abnormal retinal pigmentationHP:0007703
- Abnormality of the neckHP:0000464
- Abnormality of the wristHP:0003019
- Anteverted naresHP:0000463
- Arterial thrombosisHP:0004420
- BuphthalmosHP:0000557
- Carious teethHP:0000670
- CataractHP:0000518
- Central heterochromiaHP:0007818
- Chorioretinal colobomaHP:0000567
- Clinodactyly of the 5th fingerHP:0004209
- CraniosynostosisHP:0001363
- Depressed nasal bridgeHP:0005280
- Diabetes insipidusHP:0000873
- Downslanted palpebral fissuresHP:0000494
- Enlarged kidneyHP:0000105
- Enlarged polycystic ovariesHP:0008675
- ExostosesHP:0100777
- Facial asymmetryHP:0000324
- Generalized hirsutismHP:0002230
- Generalized hyperpigmentationHP:0007440
- GlaucomaHP:0000501
- Gray matter heterotopiaHP:0002282
- Hallux valgusHP:0001822
- Hip dislocationHP:0002827
- Intellectual disabilityHP:0001249
- Joint stiffnessHP:0001387
- Long faceHP:0000276
- Long penisHP:0000040
- Low-set earsHP:0000369
- MacrocephalyHP:0000256
- MacroorchidismHP:0000053
- MeningiomaHP:0002858
- Metatarsus valgusHP:0010508
- Myofibrillar myopathyHP:0003715
- MyopiaHP:0000545
- Narrow internal auditory canalHP:0011386
- NeoplasmHP:0002664
- Neoplasm of the central nervous systemHP:0100006
- Neoplasm of the lungHP:0100526
- Neoplasm of the thymusHP:0100521
- Open mouthHP:0000194
- Ovarian neoplasmHP:0100615
- ProptosisHP:0000520
- PtosisHP:0000508
- Recurrent infectionsHP:0002719
- Renal cystHP:0000107
- Retinal hamartomaHP:0009594
- Retinal nonattachmentHP:0007899
- Salivary basal cell adenomaHP:6000007
- SeizureHP:0001250
- SirenomeliaHP:0010497
- SplenomegalyHP:0001744
- StrabismusHP:0000486
- Sudden cardiac deathHP:0001645
- Testicular neoplasmHP:0010788
- Thick nasal alaeHP:0009928
- Thymus hyperplasiaHP:0010516
- Tooth agenesisHP:0009804