Disease (ORPHA:286):
Ehlers-Danlos syndrome type 4
Arterial-ecchymotic EDS
Vascular EDS
vEDS
EDS IV
Sack-Barabas syndrome
Vascular Ehlers-Danlos syndrome

Associated phenotypes (HPO):
id: HP:0000015
hpo_term: Bladder diverticulum
chpo_term: 膀胱憩室
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000190
hpo_term: Abnormal oral frenulum morphology
chpo_term: 口腔系带形态异常
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0002647
hpo_term: Aortic dissection
chpo_term: 主动脉夹层
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005244
hpo_term: Gastrointestinal infarctions
chpo_term: 胃肠道梗塞
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0010648
hpo_term: Dermal translucency
chpo_term: 半透明状皮肤
id: HP:0011029
hpo_term: Internal hemorrhage
chpo_term: 内出血
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100784
hpo_term: Peripheral arteriovenous fistula
chpo_term: 外围动静脉瘘
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0002642
hpo_term: Arteriovenous fistulas of celiac and mesenteric vessels
chpo_term: 腹腔及肠系膜血管动静脉瘘
id: HP:0004947
hpo_term: Arteriovenous fistula
chpo_term: 动静脉瘘
id: HP:0005294
hpo_term: Arterial dissection
chpo_term: 动脉夹层
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000139
hpo_term: Uterine prolapse
chpo_term: 子宫脱垂
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000168
hpo_term: Abnormality of the gingiva
chpo_term: 牙龈异常
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000615
hpo_term: Abnormal pupil morphology
chpo_term: 瞳孔形态异常
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001073
hpo_term: Cigarette-paper scars
chpo_term: 卷烟纸样瘢痕
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0004937
hpo_term: Pulmonary artery aneurysm
chpo_term: 肺动脉瘤
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
id: HP:0007392
hpo_term: Excessive wrinkled skin
chpo_term: 皮肤皱褶过多
id: HP:0007900
hpo_term: Hypoplastic lacrimal duct
chpo_term: 泪道发育不全
id: HP:0010318
hpo_term: Aplasia/Hypoplasia of the abdominal wall musculature
chpo_term: 腹壁肌群发育不良/发育不全
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0010719
hpo_term: Abnormality of hair texture
chpo_term: 发质异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100545
hpo_term: Arterial stenosis
chpo_term: 动脉狭窄
id: HP:0100645
hpo_term: Cystocele
chpo_term: 膀胱膨出
id: HP:0100718
hpo_term: Uterine rupture
chpo_term: 子宫破裂
id: HP:0100817
hpo_term: Renovascular hypertension
chpo_term: 肾血管性高血压