Disease (ORPHA:2953):
Distal arthrogryposis with peculiar facies and hydronephrosis
mcEDS
Musculocontractural EDS
Dündar syndrome
Adducted thumb-clubfoot syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural Ehlers-Danlos syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001933
hpo_term: Subcutaneous hemorrhage
chpo_term: 皮下出血
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002761
hpo_term: Generalized joint laxity
chpo_term: 周身关节松弛
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0005272
hpo_term: Prominent nasolabial fold
chpo_term: 鼻唇沟突出
id: HP:0006184
hpo_term: Decreased palmar creases
chpo_term: 掌纹减少
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0031869
hpo_term: Recurrent joint dislocation
chpo_term: 复发性关节脱位
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002947
hpo_term: Cervical kyphosis
chpo_term: 颈椎后凸畸形
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0430043
id: HP:0000009
hpo_term: Functional abnormality of the bladder
chpo_term: 膀胱功能异常
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0003414
hpo_term: Atlantoaxial dislocation
chpo_term: 寰枢椎脱位
id: HP:0100016
hpo_term: Abnormality of mesentery morphology
chpo_term: 肠系膜形态异常
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0004794
hpo_term: Malrotation of small bowel
chpo_term: 小肠旋转不良