Disease (ORPHA:93307):
MED4
Polyepiphyseal dysplasia type 4
EDM4
Multiple epiphyseal dysplasia type 4
rMED
Autosomal recessive multiple epiphyseal dysplasia

Associated phenotypes (HPO):
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003031
hpo_term: Ulnar bowing
chpo_term: 尺骨弯曲
id: HP:0004002
hpo_term: Flattened radial epiphyses
chpo_term: 桡骨骨骺扁平
id: HP:0004037
hpo_term: Abnormal ulnar epiphysis morphology
chpo_term: 尺骨骨骺形态异常
id: HP:0005922
hpo_term: Abnormal hand morphology
chpo_term: 手形态异常
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0008434
hpo_term: Hypoplastic cervical vertebrae
chpo_term: 颈椎发育不良
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0008829
hpo_term: Delayed femoral head ossification
chpo_term: 股骨头骨化延迟
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0009471
hpo_term: Contracture of the proximal interphalangeal joint of the 3rd finger
chpo_term: 第三指近端指间关节挛缩
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0025264
hpo_term: Stiff ankle
chpo_term: 踝部僵硬
id: HP:0031006
hpo_term: Acroparesthesia
chpo_term: 肢端感觉障碍
id: HP:0031878
hpo_term: Acromicria
chpo_term: 肢端过小症
id: HP:0032649
hpo_term: Skewfoot
chpo_term: 跖内收合并后足外翻畸形（又叫Z形足）
id: HP:0040072
hpo_term: Abnormal forearm bone morphology
chpo_term: 前臂骨形态异常
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002654
hpo_term: Multiple epiphyseal dysplasia
chpo_term: 多发性骨骺发育不良
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
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:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0003088
hpo_term: Premature osteoarthritis
chpo_term: 早发性关节炎
id: HP:0003365
hpo_term: Arthralgia of the hip
chpo_term: 髋关节痛
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0008807
hpo_term: Acetabular dysplasia
chpo_term: 髋臼发育不良
id: HP:0008848
hpo_term: Moderately short stature
chpo_term: 中度身材矮小
id: HP:0009824
hpo_term: Upper limb undergrowth
chpo_term: 上肢发育不良
id: HP:0030289
hpo_term: Flattened femoral epiphysis
chpo_term: 扁平股骨骨骺
id: HP:0031174
hpo_term: Double-layered patella
chpo_term: 双层髌骨
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000363
hpo_term: Abnormal earlobe morphology
chpo_term: 耳垂形态异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001440
hpo_term: Metatarsal synostosis
chpo_term: 跖骨骨性融合
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002947
hpo_term: Cervical kyphosis
chpo_term: 颈椎后凸畸形
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲