Disease (OMIM:619656):
Loeys-Dietz syndrome 6
LOEYS-DIETZ SYNDROME 6

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
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:0010809
hpo_term: Broad uvula
chpo_term: 宽悬雍垂
id: HP:0010886
hpo_term: Osteochondritis dissecans
chpo_term: 剥脱性骨软骨炎
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0005302
hpo_term: Carotid artery tortuosity
chpo_term: 颈动脉迂曲
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0033981
hpo_term: Vertebral artery tortuosity
chpo_term: 椎动脉迂曲
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0002108
hpo_term: Spontaneous pneumothorax
chpo_term: 自发性气胸
id: HP:0008843
hpo_term: Hip osteoarthritis
chpo_term: 髋关节骨关节炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0005116
hpo_term: Arterial tortuosity
chpo_term: 动脉迂曲
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0012727
hpo_term: Thoracic aortic aneurysm
chpo_term: 胸主动脉瘤
id: HP:0005112
hpo_term: Abdominal aortic aneurysm
chpo_term: 腹主动脉瘤
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0008419
hpo_term: Intervertebral disc degeneration
chpo_term: 椎间盘退行性变
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0005086
hpo_term: Knee osteoarthritis
chpo_term: 膝关节骨性关节炎
id: HP:0012158
hpo_term: Carotid artery dissection
chpo_term: 颈动脉夹层
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0012163
hpo_term: Carotid artery dilatation
chpo_term: 颈动脉扩张
id: HP:0034179
hpo_term: Vertebral artery aneurysm
chpo_term: 椎动脉瘤
id: HP:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚
id: HP:0006687
hpo_term: Aortic tortuosity
chpo_term: 主动脉迂曲
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张