TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:1724):
Mosaic trisomy chromosome 20
Trisomy 20 mosaicism
Mosaic trisomy 20 syndrome

Associated phenotypes (HPO):
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0030732
hpo_term: Dysplastic tricuspid valve
chpo_term: 三尖瓣发育不良
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0002143
hpo_term: Abnormality of the spinal cord
chpo_term: 脊髓异常
id: HP:0007483
hpo_term: Depigmentation/hyperpigmentation of skin
chpo_term: 皮肤色素脱失/色素沉着
id: HP:0007535
hpo_term: Hypopigmented streaks
chpo_term: 色素减退纹
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000472
hpo_term: Long neck
chpo_term: 长颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001633
hpo_term: Abnormal mitral valve morphology
chpo_term: 二尖瓣形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0004484
hpo_term: Craniofacial asymmetry
chpo_term: 颅面不对称
id: HP:0006394
hpo_term: Limited pronation/supination of forearm
chpo_term: 前臂旋前或旋后受限
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
Disease (ORPHA:1723):
Mosaic trisomy 2 syndrome
Trisomy 2 mosaicism
Mosaic trisomy chromosome 2

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0045005
hpo_term: Neural tube defect
chpo_term: 神经管缺损
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
Disease (ORPHA:469):
Hereditary fructose-1-phosphate aldolase deficiency
Hereditary fructose intolerance
Hereditary fructosemia

Associated phenotypes (HPO):
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0012545
hpo_term: Reduced aldolase level
chpo_term: 醛缩酶水平降低
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001069
hpo_term: Episodic hyperhidrosis
chpo_term: 发作性多汗症
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002918
hpo_term: Hypermagnesemia
chpo_term: 高镁血症
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0012051
hpo_term: Reactive hypoglycemia
chpo_term: 反应性低血糖
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0100626
hpo_term: Chronic hepatic failure
chpo_term: 慢性肝功能衰竭
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (ORPHA:79326):
CDG-Ii
Congenital disorder of glycosylation type Ii
CDG1I
Congenital disorder of glycosylation type 1i
ALG2-CDG
Mannosyltransferase 2 deficiency
CDG syndrome type Ii
Carbohydrate deficient glycoprotein syndrome type Ii

Associated phenotypes (HPO):
id: HP:0003642
hpo_term: Type I transferrin isoform profile
chpo_term: I型转铁蛋白异构体谱
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0012704
hpo_term: Widened subarachnoid space
chpo_term: 蛛网膜下腔增宽
id: HP:0012751
hpo_term: Abnormal basal ganglia MRI signal intensity
chpo_term: 核磁共振基底节异常信
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
Disease (ORPHA:79327):
Carbohydrate deficient glycoprotein syndrome type Ik
Congenital disorder of glycosylation type 1k
CDG1K
Mannosyltransferase 1 deficiency
CDG syndrome type Ik
Congenital disorder of glycosylation type Ik
CDG-Ik
ALG1-CDG

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002243
hpo_term: Protein-losing enteropathy
chpo_term: 蛋白丢失性肠病
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
Disease (ORPHA:466):
FFI
Fatal familial insomnia

Associated phenotypes (HPO):
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0006511
hpo_term: Laryngeal stridor
chpo_term: 喉喘鸣
id: HP:0006979
hpo_term: Sleep-wake cycle disturbance
chpo_term: 睡眠-觉醒周期紊乱
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0012660
hpo_term: Thalamic hypometabolism in FDG PET
chpo_term: FDG PET丘脑代谢减退
id: HP:0031843
hpo_term: Bradyphrenia
chpo_term: 智力迟钝
id: HP:0033687
hpo_term: Short term memory impairment
chpo_term: 短时记忆障碍
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:5200044
id: HP:5200360
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0012689
hpo_term: Abnormal pineal melatonin secretion
chpo_term: 松果体褪黑素分泌异常
id: HP:0010850
hpo_term: EEG with spike-wave complexes
chpo_term: 脑电图，棘慢复合波
Disease (ORPHA:465):
Congenital plasminogen activator inhibitor type 1 deficiency
Congenital PAI-1 deficiency

Associated phenotypes (HPO):
id: HP:0011854
hpo_term: Hemoperitoneum
chpo_term: 腹腔积血
id: HP:0012233
hpo_term: Intramuscular hematoma
chpo_term: 肌内血肿
id: HP:0100310
hpo_term: Epidural hemorrhage
chpo_term: 硬膜外出血
id: HP:0007420
hpo_term: Spontaneous hematomas
chpo_term: 自发性血肿
id: HP:0001934
hpo_term: Persistent bleeding after trauma
chpo_term: 创伤后持续性出血
id: HP:0004846
hpo_term: Prolonged bleeding after surgery
chpo_term: 手术后出血时间延长
id: HP:0040228
hpo_term: Decreased level of plasminogen
chpo_term: 纤溶酶原水平下降
id: HP:0040230
hpo_term: Decreased level of tissue plasminogen activator
chpo_term: 组织纤溶酶原激活物水平减低
id: HP:0040245
hpo_term: Reduced alpha-2-antiplasmin activity
chpo_term: α2-抗纤溶酶活性减低
id: HP:0040248
hpo_term: Reduced plasminogen activator inhibitor 1 activity
chpo_term: 纤溶酶原激活物抑制剂1活性降低
id: HP:0040249
hpo_term: Reduced plasminogen activator inhibitor 1 antigen
chpo_term: 纤溶酶原激活物抑制剂1抗原减少
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001933
hpo_term: Subcutaneous hemorrhage
chpo_term: 皮下出血
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0006298
hpo_term: Prolonged bleeding after dental extraction
chpo_term: 拔牙后出血时间延长
id: HP:0011891
hpo_term: Post-partum hemorrhage
chpo_term: 产后出血
id: HP:0030657
hpo_term: Umbilical cord hematoma
chpo_term: 脐带血肿
id: HP:0040184
hpo_term: Oral bleeding
chpo_term: 口腔出血
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0001685
hpo_term: Myocardial fibrosis
chpo_term: 心肌纤维化
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
Disease (ORPHA:231222):
Beta-thalassemia intermedia

Associated phenotypes (HPO):
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0010972
hpo_term: Anemia of inadequate production
chpo_term: 红细胞 生成不足性贫血
id: HP:0011904
hpo_term: Persistence of hemoglobin F
chpo_term: 胎儿血红蛋白F持续存在
id: HP:0025066
hpo_term: Decreased mean corpuscular volume
chpo_term: 红细胞平均体积减低
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001978
hpo_term: Extramedullary hematopoiesis
chpo_term: 髓外造血
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0011031
hpo_term: Abnormality of iron homeostasis
chpo_term: 铁紊乱
id: HP:0012132
hpo_term: Erythroid hyperplasia
chpo_term: 红系增生
id: HP:0045048
hpo_term: Increased HbA2 hemoglobin
chpo_term: 血红蛋白HbA2增多
id: HP:0100724
hpo_term: Hypercoagulability
chpo_term: 高凝状态
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0000114
hpo_term: Proximal tubulopathy
chpo_term: 近端肾小管病
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0001722
hpo_term: High-output congestive heart failure
chpo_term: 高输出充血性心力衰竭
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0012465
hpo_term: Elevated hepatic iron concentration
chpo_term: 肝内铁浓度升高
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
Disease (ORPHA:1708):
Mosaic trisomy chromosome 16
Trisomy 16 mosaicism
Mosaic trisomy 16 syndrome

Associated phenotypes (HPO):
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0100602
hpo_term: Preeclampsia
chpo_term: 先兆子痫
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002011
hpo_term: Morphological central nervous system abnormality
chpo_term: 中枢神经系统的形态异常
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0004484
hpo_term: Craniofacial asymmetry
chpo_term: 颅面不对称
id: HP:0006267
hpo_term: Large placenta
chpo_term: 大胎盘
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
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:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002245
hpo_term: Meckel diverticulum
chpo_term: Meckel憩室
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0005587
hpo_term: Profuse pigmented skin lesions
chpo_term: 泛发性色素性皮损
id: HP:0005773
hpo_term: Short forearm
chpo_term: 前臂短
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0011470
hpo_term: Nasogastric tube feeding in infancy
chpo_term: 婴儿期鼻胃管饲
id: HP:0011640
hpo_term: Single coronary artery origin
chpo_term: 单一冠状动脉起源
id: HP:0012372
hpo_term: Abnormal eye morphology
chpo_term: 眼部形态异常
id: HP:0031703
hpo_term: Abnormal ear morphology
chpo_term: 耳形态异常
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
Disease (ORPHA:461):
X-linked ichthyosis
RXLI
XLI
Recessive X-linked ichthyosis
Steroid sulfatase deficiency

Associated phenotypes (HPO):
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0007549
hpo_term: Desquamation of skin soon after birth
chpo_term: 出生后皮肤剥脱
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:1707):
Telomeric duplication 15q
Distal duplication 15q syndrome
Distal trisomy 15q
Trisomy 15qter

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000055
hpo_term: Abnormality of female external genitalia
chpo_term: 女性外生殖器异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0005988
hpo_term: Congenital muscular torticollis
chpo_term: 先天性肌性斜颈
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000383
hpo_term: Abnormal periauricular region morphology
chpo_term: 耳前区形态异常
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁