Disease (OMIM:163950):
Noonan syndrome 1
NOONAN SYNDROME 1

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0004841
hpo_term: Reduced factor XII activity
chpo_term: 凝血因子XII活性减低
id: HP:0002224
hpo_term: Woolly hair
chpo_term: 羊毛状发
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000917
hpo_term: Superior pectus carinatum
chpo_term: 上段鸡胸
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000915
hpo_term: Pectus excavatum of inferior sternum
chpo_term: 下段漏斗胸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0009466
hpo_term: Radial deviation of finger
chpo_term: 手指桡侧偏斜
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0010310
hpo_term: Chylothorax
chpo_term: 乳糜胸
id: HP:0100697
hpo_term: Neurofibrosarcoma
chpo_term: 神经纤维肉瘤
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0012209
hpo_term: Juvenile myelomonocytic leukemia
chpo_term: 青少年型粒单核细胞白血病
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0004859
hpo_term: Amegakaryocytic thrombocytopenia
chpo_term: 巨核细胞缺乏性血小板减少症
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0008357
hpo_term: Reduced factor XIII activity
chpo_term: 凝血因子XIII活性减低
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视