Disease (ORPHA:744):
Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome

Associated phenotypes (HPO):
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0001555
hpo_term: Asymmetry of the thorax
chpo_term: 胸廓不对称
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004099
hpo_term: Macrodactyly
chpo_term: 巨指
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0004437
hpo_term: Cranial hyperostosis
chpo_term: 颅骨骨质增生
id: HP:0005306
hpo_term: Capillary hemangioma
chpo_term: 毛细血管瘤
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0007552
hpo_term: Abnormal subcutaneous fat tissue distribution
chpo_term: 皮下脂肪组织分布异常
id: HP:0010816
hpo_term: Epidermal nevus
chpo_term: 表皮痣
id: HP:0011276
hpo_term: Vascular skin abnormality
chpo_term: 皮肤血管异常
id: HP:0012032
hpo_term: Lipoma
chpo_term: 脂肪瘤
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0100560
hpo_term: Upper limb asymmetry
chpo_term: 上肢不对称
id: HP:0100764
hpo_term: Lymphangioma
chpo_term: 淋巴管瘤
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000896
hpo_term: Rib exostoses
chpo_term: 肋骨外生骨疣
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0004418
hpo_term: Thrombophlebitis
chpo_term: 血栓性静脉炎
id: HP:0004459
hpo_term: Exostosis of the external auditory canal
chpo_term: 外耳道外生骨疣
id: HP:0004490
hpo_term: Calvarial hyperostosis
chpo_term: 颅骨骨质增生
id: HP:0005595
hpo_term: Generalized hyperkeratosis
chpo_term: 泛发性角化过度
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0010566
hpo_term: Hamartoma
chpo_term: 错构瘤
id: HP:0012721
hpo_term: Venous malformation
chpo_term: 静脉畸形
id: HP:0025104
hpo_term: Capillary malformation
chpo_term: 毛细血管畸形
id: HP:0032445
hpo_term: Pulmonary cyst
chpo_term: 肺囊肿
id: HP:0032446
hpo_term: Pulmonary bulla
chpo_term: 肺大疱
id: HP:0034275
hpo_term: Verrucous epidermal nevus
chpo_term: 疣状表皮痣
id: HP:0100730
hpo_term: Bronchogenic cyst
chpo_term: 支气管囊肿
id: HP:0100761
hpo_term: Visceral angiomatosis
chpo_term: 内脏血管瘤病
id: HP:0100774
hpo_term: Hyperostosis
chpo_term: 骨质增生
id: HP:6000009
id: HP:0000040
hpo_term: Long penis
chpo_term: 长阴茎
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002858
hpo_term: Meningioma
chpo_term: 脑膜瘤
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0003715
hpo_term: Myofibrillar myopathy
chpo_term: 肌原纤维肌病
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004420
hpo_term: Arterial thrombosis
chpo_term: 动脉血栓形成
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0007818
hpo_term: Central heterochromia
chpo_term: 中央虹膜异色
id: HP:0007899
hpo_term: Retinal nonattachment
chpo_term: 视网膜无附着
id: HP:0008675
hpo_term: Enlarged polycystic ovaries
chpo_term: 增大的多囊卵巢
id: HP:0009594
hpo_term: Retinal hamartoma
chpo_term: 视网膜错构瘤
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0010497
hpo_term: Sirenomelia
chpo_term: 美人鱼综合症（并腿畸形）
id: HP:0010508
hpo_term: Metatarsus valgus
chpo_term: 跖骨外翻
id: HP:0010516
hpo_term: Thymus hyperplasia
chpo_term: 胸腺增生
id: HP:0010788
hpo_term: Testicular neoplasm
chpo_term: 睾丸肿瘤
id: HP:0011386
hpo_term: Narrow internal auditory canal
chpo_term: 内听道狭窄
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100006
hpo_term: Neoplasm of the central nervous system
chpo_term: 中枢神经系统的肿瘤
id: HP:0100521
hpo_term: Neoplasm of the thymus
chpo_term: 胸腺肿瘤
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0100777
hpo_term: Exostoses
chpo_term: 外生骨疣
id: HP:6000007