Disease (ORPHA:648):
Noonan syndrome

Associated phenotypes (HPO):
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0010318
hpo_term: Aplasia/Hypoplasia of the abdominal wall musculature
chpo_term: 腹壁肌群发育不良/发育不全
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100625
hpo_term: Enlarged thorax
chpo_term: 胸廓扩张
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001641
hpo_term: Abnormal pulmonary valve morphology
chpo_term: 肺动脉瓣形态异常
id: HP:0001743
hpo_term: Abnormality of the spleen
chpo_term: 脾脏异常
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0011362
hpo_term: Abnormal hair quantity
chpo_term: 毛发数量异常
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011869
hpo_term: Abnormal platelet function
chpo_term: 血小板功能异常
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0100763
hpo_term: Abnormality of the lymphatic system
chpo_term: 淋巴系统异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
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:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0010946
hpo_term: Dilatation of the renal pelvis
chpo_term: 肾盂扩张
id: HP:0011381
hpo_term: Aplasia of the semicircular canal
chpo_term: 半规管不发育
id: HP:0012209
hpo_term: Juvenile myelomonocytic leukemia
chpo_term: 青少年型粒单核细胞白血病
id: HP:0012569
hpo_term: Delayed menarche
chpo_term: 月经初潮延迟
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍