Disease (OMIM:108720):
ATELOSTEOGENESIS, TYPE I
Atelosteogenesis, type I

Associated phenotypes (HPO):
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0030330
hpo_term: Multinucleated giant chondrocytes in epiphyseal cartilage
chpo_term: 骺软骨中存在多核巨软骨细胞
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:6000952
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001602
hpo_term: Laryngeal stenosis
chpo_term: 喉狭窄
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0008417
hpo_term: Vertebral hypoplasia
chpo_term: 椎体发育不全
id: HP:0000890
hpo_term: Long clavicles
chpo_term: 长锁骨
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002990
hpo_term: Fibular aplasia
chpo_term: 腓骨发育不良
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:6001057
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0006406
hpo_term: Club-shaped proximal femur
chpo_term: 棒状股骨近端
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0006408
hpo_term: Distal tapering femur
chpo_term: 股骨远端逐渐变细
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0006495
hpo_term: Aplasia/Hypoplasia of the ulna
chpo_term: 尺骨发育不良/发育不全
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0004976
hpo_term: Knee dislocation
chpo_term: 膝关节脱位
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0004592
hpo_term: Thoracic platyspondyly
chpo_term: 扁平胸椎
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾