Disease (OMIM:130050):
EHLERS-DANLOS SYNDROME, VASCULAR TYPE
Ehlers-Danlos syndrome, Vascular type

Associated phenotypes (HPO):
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0010648
hpo_term: Dermal translucency
chpo_term: 半透明状皮肤
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0025420
hpo_term: Diffuse alveolar hemorrhage
chpo_term: 弥漫性肺泡出血
id: HP:0100645
hpo_term: Cystocele
chpo_term: 膀胱膨出
id: HP:0012151
hpo_term: Hemothorax
chpo_term: 血胸
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0025019
hpo_term: Arterial rupture
chpo_term: 动脉破裂
id: HP:0000993
hpo_term: Molluscoid pseudotumors
chpo_term: 软假瘤
id: HP:0001842
hpo_term: Foot acroosteolysis
chpo_term: 足趾端溶骨
id: HP:0005620
hpo_term: Hypermobility of interphalangeal joints
chpo_term: 指间关节活动过度
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0005267
hpo_term: Premature delivery because of cervical insufficiency or membrane fragility
chpo_term: 宫颈机能不全或胎膜脆性原因导致的早产
id: HP:0031157
hpo_term: Carotid cavernous fistula
chpo_term: 颈动脉海绵窦瘘
id: HP:0012499
hpo_term: Descending aortic dissection
chpo_term: 降主动脉夹层
id: HP:0032446
hpo_term: Pulmonary bulla
chpo_term: 肺大疱
id: HP:0032447
hpo_term: Pulmonary bleb
chpo_term: 肺气泡
id: HP:0009771
hpo_term: Osteolytic defects of the phalanges of the hand
chpo_term: 指骨溶骨缺陷
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0002108
hpo_term: Spontaneous pneumothorax
chpo_term: 自发性气胸
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0000387
hpo_term: Absent earlobe
chpo_term: 耳垂缺失
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001073
hpo_term: Cigarette-paper scars
chpo_term: 卷烟纸样瘢痕
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0006094
hpo_term: Finger joint hypermobility
chpo_term: 指关节活动过度
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000418
hpo_term: Narrow nasal ridge
chpo_term: 鼻脊狭窄
id: HP:0006099
hpo_term: Metacarpophalangeal joint hyperextensibility
chpo_term: 掌指关节伸展过度
id: HP:0000139
hpo_term: Uterine prolapse
chpo_term: 子宫脱垂
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0004933
hpo_term: Ascending aortic dissection
chpo_term: 升主动脉夹层
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0006535
hpo_term: Recurrent intrapulmonary hemorrhage
chpo_term: 复发性肺内出血
id: HP:0025395
hpo_term: Combined cystic and ground-glass pattern on pulmonary HRCT
chpo_term: 肺部HRCT可见囊状与毛玻璃样结构
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0025392
hpo_term: Nodular pattern on pulmonary HRCT
chpo_term: HRCT可见肺部结节状结构
id: HP:0030009
hpo_term: Cervical insufficiency
chpo_term: 宫颈机能不全
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0100718
hpo_term: Uterine rupture
chpo_term: 子宫破裂
id: HP:0006201
hpo_term: Hypermobility of distal interphalangeal joints
chpo_term: 远端指(趾)间关节活动过度
id: HP:0006522
hpo_term: Repeated pneumothoraces
chpo_term: 反复气胸
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂