Disease (ORPHA:363417):
Temtamy preaxial brachydactyly syndrome

Associated phenotypes (HPO):
id: HP:0009942
hpo_term: Duplication of thumb phalanx
chpo_term: 拇指重复
id: HP:0011297
hpo_term: Abnormal digit morphology
chpo_term: 手指/脚趾形态异常
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0001090
hpo_term: Abnormally large globe
chpo_term: 大眼球
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001566
hpo_term: Widely-spaced maxillary central incisors
chpo_term: 上颌中切牙牙间隙增宽
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0006152
hpo_term: Proximal symphalangism of hands
chpo_term: 近端指间关节融合
id: HP:0008625
hpo_term: Severe sensorineural hearing impairment
chpo_term: 重度感音神经性耳聋
id: HP:0009608
hpo_term: Complete duplication of proximal phalanx of the thumb
chpo_term: 拇指近节指骨完全重复
id: HP:0009944
hpo_term: Partial duplication of thumb phalanx
chpo_term: 拇指指骨部分重复
id: HP:0009966
hpo_term: Complete duplication of the middle phalanx of the 3rd finger
chpo_term: 第三指中节指骨完全重复
id: HP:0009970
hpo_term: Partial duplication of the proximal phalanx of the 3rd finger
chpo_term: 第三指近节指骨部分重复
id: HP:0011087
hpo_term: Talon cusp
chpo_term: 副牙尖
id: HP:0100266
hpo_term: Synostosis of carpals/tarsals
chpo_term: 腕骨（跗骨）间的骨性联接
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000517
hpo_term: Abnormal lens morphology
chpo_term: 晶状体形态异常
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005037
hpo_term: Proximal radio-ulnar synostosis
chpo_term: 近端桡尺骨性愈合
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0009466
hpo_term: Radial deviation of finger
chpo_term: 手指桡侧偏斜
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0011078
hpo_term: Abnormality of canine
chpo_term: 犬齿异常
id: HP:0012795
hpo_term: Abnormal optic disc morphology
chpo_term: 视盘形态异常
id: HP:0040022
hpo_term: Clinodactyly of the 2nd finger
chpo_term: 第二指弯曲
id: HP:0040159
hpo_term: Abnormal spaced incisors
chpo_term: 切牙间隙异常
id: HP:0100345
hpo_term: Tibial deviation of the 2nd toe
chpo_term: 第二趾胫侧偏移
id: HP:0100347
hpo_term: Tibial deviation of the 5th toe
chpo_term: 第五趾胫侧偏移