Disease (OMIM:181350):
EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Associated phenotypes (HPO):
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0009060
hpo_term: Scapular muscle atrophy
chpo_term: 肩胛肌萎缩
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003707
hpo_term: Calf muscle pseudohypertrophy
chpo_term: 小腿肌肉假性肥大
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0025258
hpo_term: Stiff neck
chpo_term: 颈部僵硬
id: HP:0011727
hpo_term: Peroneal muscle weakness
chpo_term: 腓骨肌无力
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0034671
id: HP:0006785
hpo_term: Limb-girdle muscular dystrophy
chpo_term: 肢带型肌营养不良症
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0034391
hpo_term: Elbow contracture
chpo_term: 肘部挛缩
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0005997
hpo_term: Neck joint contracture
chpo_term: 颈部关节挛缩
id: HP:0003697
hpo_term: Scapuloperoneal amyotrophy
chpo_term: 肩腓肌萎缩
id: HP:0031329
hpo_term: Interstitial cardiac fibrosis
chpo_term: 间质性心脏纤维化
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0030234
hpo_term: Highly elevated creatine kinase
chpo_term: 肌酸磷酸激酶明显上升
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0011711
hpo_term: Left anterior fascicular block
chpo_term: 左前分支传导阻滞
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0034681
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0009049
hpo_term: Peroneal muscle atrophy
chpo_term: 腓骨肌萎缩
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0009129
hpo_term: Upper limb amyotrophy
chpo_term: 上肢肌萎缩
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0004631
hpo_term: Decreased cervical spine flexion due to contractures of posterior cervical muscles
chpo_term: 颈后肌群挛缩致颈椎屈度下降
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩