Disease (ORPHA:1692):
Trisomy 1 mosaicism
Mosaic trisomy 1 syndrome
Mosaic trisomy chromosome 1

Associated phenotypes (HPO):
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0001233
hpo_term: 2-3 finger syndactyly
chpo_term: 第二-三指并指
id: HP:0012553
hpo_term: Hypoplastic thumbnail
chpo_term: 拇指甲发育不全
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000803
hpo_term: Renal cortical cysts
chpo_term: 肾皮质囊肿
id: HP:0007291
hpo_term: Posterior fossa cyst
chpo_term: 后颅窝囊肿
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001188
hpo_term: Hand clenching
chpo_term: 攥拳手
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0009943
hpo_term: Complete duplication of thumb phalanx
chpo_term: 拇指指骨完全重复
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0100040
hpo_term: Broad 2nd toe
chpo_term: 第二趾变宽
id: HP:0010344
hpo_term: Deviation of the 5th toe
chpo_term: 第五趾偏斜
id: HP:0001837
hpo_term: Broad toe
chpo_term: 宽趾
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0003244
hpo_term: Penile hypospadias
chpo_term: 阴茎型尿道下裂
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0007911
hpo_term: Congenital bilateral ptosis
chpo_term: 先天性双侧上睑下垂
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000188
hpo_term: Short upper lip
chpo_term: 上唇短小
id: HP:0001032
hpo_term: Absent distal interphalangeal creases
chpo_term: 远端指间关节皮肤皱褶缺如
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0045086
hpo_term: Knee joint hypermobility
chpo_term: 膝关节过度伸展
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0000237
hpo_term: Small anterior fontanelle
chpo_term: 小前囟
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0040019
hpo_term: Finger clinodactyly
chpo_term: 指弯曲
id: HP:0100839
hpo_term: Hepatic agenesis
chpo_term: 肝脏发育不全