Disease (ORPHA:485):
Kniest dysplasia

Associated phenotypes (HPO):
id: HP:0008271
hpo_term: Abnormal cartilage collagen
chpo_term: 软骨胶原蛋白异常
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001367
hpo_term: Abnormal joint morphology
chpo_term: 关节形态异常
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0003037
hpo_term: Enlarged joints
chpo_term: 关节膨大
id: HP:0003330
hpo_term: Abnormal bone structure
chpo_term: 骨结构异常
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007773
hpo_term: Vitreoretinopathy
chpo_term: 玻璃体视网膜病
id: HP:0007964
hpo_term: Degenerative vitreoretinopathy
chpo_term: 退行性玻璃体视网膜病
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0012069
hpo_term: Keratan sulfate excretion in urine
chpo_term: 尿中排泄硫酸角质素
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
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:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000947
hpo_term: Dumbbell-shaped long bone
chpo_term: 哑铃状长骨
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003040
hpo_term: Arthropathy
chpo_term: 关节病
id: HP:0003051
hpo_term: Enlarged metaphyses
chpo_term: 干骺端膨大
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0007992
hpo_term: Lattice retinal degeneration
chpo_term: 格子样视网膜变性
id: HP:0008063
hpo_term: Aplasia/Hypoplasia of the lens
chpo_term: 晶状体发育缺陷/不全
id: HP:0009815
hpo_term: Aplasia/hypoplasia of the extremities
chpo_term: 肢体发育不良/发育不全
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0010574
hpo_term: Abnormality of the epiphysis of the femoral head
chpo_term: 股骨头骨骺异常
id: HP:0010580
hpo_term: Enlarged epiphyses
chpo_term: 骨骺膨大
id: HP:0010646
hpo_term: Cervical spine instability
chpo_term: 颈椎不稳
id: HP:0012230
hpo_term: Rhegmatogenous retinal detachment
chpo_term: 孔源性视网膜脱离
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0004557
hpo_term: Anterior vertebral fusion
chpo_term: 椎体前缘融合
id: HP:0006375
hpo_term: Dumbbell-shaped femur
chpo_term: 哑铃状股骨
id: HP:0006454
hpo_term: Delayed patellar ossification
chpo_term: 髌骨骨化延迟
id: HP:0008422
hpo_term: Vertebral wedging
chpo_term: 椎体楔形变
id: HP:0012019
hpo_term: Lens luxation
chpo_term: 晶状体脱位
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0008755
hpo_term: Laryngotracheomalacia
chpo_term: 喉气管软化