Disease (OMIM:602342):
Pierpont syndrome
PIERPONT SYNDROME

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0002265
hpo_term: Large fleshy ears
chpo_term: 肥大耳
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000283
hpo_term: Broad face
chpo_term: 宽脸
id: HP:0006191
hpo_term: Deep palmar crease
chpo_term: 掌褶纹深
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0000759
hpo_term: Abnormal peripheral nervous system morphology
chpo_term: 周围神经系统形态异常
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0011341
hpo_term: Long upper lip
chpo_term: 上唇肥厚
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0007946
hpo_term: Unilateral narrow palpebral fissure
chpo_term: 单侧睑裂狭小
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100853
hpo_term: Hypoplastic areola
chpo_term: 乳晕发育不良
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0002708
hpo_term: Prominent median palatal raphe
chpo_term: 腭中缝突起
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001869
hpo_term: Deep plantar creases
chpo_term: 跖部深褶
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0012043
hpo_term: Pendular nystagmus
chpo_term: 钟摆样眼球震颤
id: HP:0032276
hpo_term: Prominent subcalcaneal fat pad
chpo_term: 跟骨下脂肪垫突出
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾