Disease (OMIM:186500):
Multiple synostoses syndrome 1
MULTIPLE SYNOSTOSES SYNDROME 1

Associated phenotypes (HPO):
id: HP:0009816
hpo_term: Lower limb undergrowth
chpo_term: 下肢发育不良
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0008607
hpo_term: Progressive conductive hearing impairment
chpo_term: 渐进性传导性听力损失
id: HP:0006077
hpo_term: Absent proximal finger flexion creases
chpo_term: 手指近端屈曲褶痕缺如
id: HP:0005807
hpo_term: Absent distal phalanges
chpo_term: 远节指骨缺失
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0009466
hpo_term: Radial deviation of finger
chpo_term: 手指桡侧偏斜
id: HP:0000879
hpo_term: Short sternum
chpo_term: 短胸骨
id: HP:0009941
hpo_term: Asymmetry of the mouth
chpo_term: 嘴不对称
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0005104
hpo_term: Hypoplastic nasal septum
chpo_term: 鼻中隔发育不全
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0009295
hpo_term: Short middle phalanx of the 4th finger
chpo_term: 第四指中节指骨短
id: HP:0009177
hpo_term: Proximal/middle symphalangism of 5th finger
chpo_term: 第五指近节/中节关节融合
id: HP:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合
id: HP:0006385
hpo_term: Short lower limbs
chpo_term: 下肢短
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000920
hpo_term: Enlargement of the costochondral junction
chpo_term: 肋软骨交界处膨大
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0011918
hpo_term: Clinodactyly of the 4th toe
chpo_term: 第四趾屈趾畸形
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0000381
hpo_term: Stapes ankylosis
chpo_term: 镫骨固定
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0100394
hpo_term: Short middle phalanx of the 5th toe
chpo_term: 第五趾中节趾骨短
id: HP:0010624
hpo_term: Aplastic/hypoplastic toenail
chpo_term: 趾甲发育缺陷/不全
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0008513
hpo_term: Bilateral conductive hearing impairment
chpo_term: 双侧传导性听觉障碍
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0100482
hpo_term: Proximal/middle symphalangism of 5th toe
chpo_term: 第五趾近节/中节趾关节融合
id: HP:0100481
hpo_term: Proximal/middle symphalangism of 4th toe
chpo_term: 第四趾近节/中节趾关节融合
id: HP:0008460
hpo_term: Hypoplastic spinal processes
chpo_term: 棘突发育不良
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0009477
hpo_term: Proximal/middle symphalangism of 4th finger
chpo_term: 第四手指近、中节指关节融合
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症