Disease (ORPHA:800):
Aberfeld syndrome
SJS1
Schwartz-Jampel syndrome type 1
SJS
Schwartz-Jampel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Schwartz-Jampel-Aberfeld syndrome
Myotonic chondrodystrophy
Osteochondromuscular dystrophy
Catel-Hempel syndrome
Burton skeletal dysplasia
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Burton syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000205
hpo_term: Pursed lips
chpo_term: 撅起的嘴唇
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000600
hpo_term: Abnormality of the pharynx
chpo_term: 咽部异常
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001557
hpo_term: Prenatal movement abnormality
chpo_term: 产前胎动异常
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0001621
hpo_term: Weak voice
chpo_term: 嗓音微弱
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0003044
hpo_term: Shoulder flexion contracture
chpo_term: 肩关节屈曲挛缩
id: HP:0003179
hpo_term: Protrusio acetabuli
chpo_term: 髋臼内陷
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0005830
hpo_term: Flexion contracture of toe
chpo_term: 脚趾屈曲挛缩
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007740
hpo_term: Long eyelashes in irregular rows
chpo_term: 不规则排列的长睫
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009743
hpo_term: Distichiasis
chpo_term: 双行睫
id: HP:0010508
hpo_term: Metatarsus valgus
chpo_term: 跖骨外翻
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0012544
hpo_term: Elevated aldolase level
chpo_term: 醛缩酶水平升高
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化
id: HP:0100612
hpo_term: Odontogenic neoplasm
chpo_term: 牙源性肿瘤
id: HP:0100795
hpo_term: Abnormally straight spine
chpo_term: 脊柱异常变直
id: HP:0100813
hpo_term: Testicular torsion
chpo_term: 睾丸扭转