Disease (OMIM:190685):
DOWN SYNDROME
Down syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0025656
hpo_term: Prenatal double bubble sign
chpo_term: 产前双气泡征
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0010316
hpo_term: Ebstein anomaly of the tricuspid valve
chpo_term: 三尖瓣Ebstein畸形
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001674
hpo_term: Complete atrioventricular canal defect
chpo_term: 完全性房室通道缺损
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0100867
hpo_term: Duodenal stenosis
chpo_term: 十二指肠狭窄
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0002511
hpo_term: Alzheimer disease
chpo_term: 阿尔茨海默病
id: HP:0006733
hpo_term: Acute megakaryocytic leukemia
chpo_term: 急性巨核细胞白血病
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0005547
hpo_term: Myeloproliferative disorder
chpo_term: 骨髓增生性疾病
id: HP:0001088
hpo_term: Brushfield spots
chpo_term: Brushfield点
id: HP:0003467
hpo_term: Atlantoaxial instability
chpo_term: 寰枢椎不稳
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0010773
hpo_term: Partial anomalous pulmonary venous return
chpo_term: 部分肺静脉回流异常
id: HP:0003182
hpo_term: Shallow acetabular fossae
chpo_term: 髋臼窝变浅
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0025705
hpo_term: Abnormal fetal nasal bone visualization
chpo_term: 胎儿鼻骨成像异常
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损