Disease (ORPHA:96182):
UPD(7)mat
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

Associated phenotypes (HPO):
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002835
hpo_term: Aspiration
chpo_term: 误吸
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0003944
hpo_term: Narrow joint spaces of the elbow
chpo_term: 肘关节腔狭窄
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0008846
hpo_term: Severe intrauterine growth retardation
chpo_term: 严重的胎儿宫内发育迟缓
id: HP:0010782
hpo_term: Shoulder dimple
chpo_term: 肩酒窝征
id: HP:0011094
hpo_term: Increased overbite
chpo_term: 过咬合
id: HP:0012412
hpo_term: Premature adrenarche
chpo_term: 肾上腺功能早现
id: HP:0012523
hpo_term: Oral aversion
chpo_term: 口服厌恶
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓