TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2257):
Primary pulmonary hypoplasia

Associated phenotypes (HPO):
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0030829
hpo_term: Abnormal breath sound
chpo_term: 异常呼吸音
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002778
hpo_term: Abnormal tracheal morphology
chpo_term: 气管形态异常
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0040045
hpo_term: Abnormal hemidiaphragm morphology
chpo_term: 单侧横膈形态异常
id: HP:0000071
hpo_term: Ureteral stenosis
chpo_term: 输尿管狭窄
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0030966
hpo_term: Abnormal pulmonary artery morphology
chpo_term: 肺动脉形态异常
id: HP:0032094
hpo_term: Increased circulating surfactant protein level
chpo_term: 血液表面活性蛋白水平升高
Disease (ORPHA:2256):
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Saito-Kuba-Tsuruta syndrome

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
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:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006492
hpo_term: Aplasia/Hypoplasia of the fibula
chpo_term: 腓骨发育不良/发育不全
id: HP:0010242
hpo_term: Aplasia of the proximal phalanges of the hand
chpo_term: 近节指骨发育不全
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100016
hpo_term: Abnormality of mesentery morphology
chpo_term: 肠系膜形态异常
Disease (ORPHA:251623):
Pituicytoma

Associated phenotypes (HPO):
id: HP:0011752
hpo_term: Neoplasm of the posterior pituitary
chpo_term: 垂体后叶肿瘤
id: HP:0011754
hpo_term: Pituicytoma
chpo_term: 垂体细胞瘤
id: HP:0012503
hpo_term: Abnormality of the pituitary gland
chpo_term: 垂体异常
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
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:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0011043
hpo_term: Abnormal circulating adrenocorticotropin concentration
chpo_term: 循环促肾上腺皮质激素水平异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030018
hpo_term: Decreased female libido
chpo_term: 女性性欲降低
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0000863
hpo_term: Central diabetes insipidus
chpo_term: 中枢性尿崩症
id: HP:0100829
hpo_term: Galactorrhea
chpo_term: 溢乳
Disease (ORPHA:2255):
Yorifuji-Okuno syndrome
PACHD
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Pancreatic agenesis and congenital heart defects syndrome

Associated phenotypes (HPO):
id: HP:0000857
hpo_term: Neonatal insulin-dependent diabetes mellitus
chpo_term: 新生儿胰岛素依赖性糖尿病
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:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
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:0002254
hpo_term: Intermittent diarrhea
chpo_term: 间歇性腹泻
id: HP:0002594
hpo_term: Pancreatic hypoplasia
chpo_term: 胰腺发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0100801
hpo_term: Pancreatic aplasia
chpo_term: 胰腺发育不良
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0004762
hpo_term: Hypoplasia of right ventricle
chpo_term: 右心室发育不全
id: HP:0011573
hpo_term: Hypoplastic tricuspid valve
chpo_term: 三尖瓣发育不全
id: HP:0011581
hpo_term: Double outlet left ventricle
chpo_term: 左室双出口
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000891
hpo_term: Cervical ribs
chpo_term: 颈肋
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0005912
hpo_term: Biliary atresia
chpo_term: 胆道闭锁
id: HP:0010626
hpo_term: Anterior pituitary agenesis
chpo_term: 垂体前叶缺失
id: HP:0011466
hpo_term: Aplasia/Hypoplasia of the gallbladder
chpo_term: 胆囊不发育/发育不全
id: HP:0011611
hpo_term: Interrupted aortic arch
chpo_term: 主动脉弓断离
id: HP:0011628
hpo_term: Congenital defect of the pericardium
chpo_term: 先天性心包缺陷
id: HP:0040196
hpo_term: Mild microcephaly
chpo_term: 轻度小头畸形
Disease (ORPHA:279914):
IU
Intermediate uveitis

Associated phenotypes (HPO):
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0031035
hpo_term: Chronic infection
chpo_term: 慢性感染
id: HP:0200056
hpo_term: Macular scar
chpo_term: 黄斑瘢痕
id: HP:0040049
hpo_term: Macular edema
chpo_term: 黄斑水肿
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000585
hpo_term: Band keratopathy
chpo_term: 带状角膜病
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0011484
hpo_term: Posterior synechiae of the anterior chamber
chpo_term: 虹膜后粘连
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0012122
hpo_term: Anterior uveitis
chpo_term: 前葡萄膜炎
id: HP:0030652
hpo_term: Vitreous haze
chpo_term: 玻璃体混浊
id: HP:0030661
hpo_term: Vitreous snowballs
chpo_term: 雪球状玻璃体
id: HP:0100014
hpo_term: Epiretinal membrane
chpo_term: 视网膜前膜
id: HP:0100653
hpo_term: Optic neuritis
chpo_term: 视神经炎
id: HP:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
Disease (ORPHA:275555):
Preeclampsia

Associated phenotypes (HPO):
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0005202
hpo_term: Helicobacter pylori infection
chpo_term: 幽门螺杆菌感染
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0004421
hpo_term: Elevated systolic blood pressure
chpo_term: 收缩压升高
id: HP:0005117
hpo_term: Elevated diastolic blood pressure
chpo_term: 舒张压升高
id: HP:0100767
hpo_term: Abnormal placenta morphology
chpo_term: 胎盘异常
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0410019
hpo_term: Epigastric pain
chpo_term: 上腹部疼痛
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
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:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0006707
hpo_term: Abnormality of the hepatic vasculature
chpo_term: 肝脏血管异常
id: HP:0031418
hpo_term: Increased body mass index
chpo_term: 体重指数增加
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (ORPHA:2254):
PCH1
Pontocerebellar hypoplasia type 1
Norman disease

Associated phenotypes (HPO):
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:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002398
hpo_term: Degeneration of anterior horn cells
chpo_term: 前角细胞变性
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002350
hpo_term: Cerebellar cyst
chpo_term: 小脑囊肿
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0004886
hpo_term: Congenital laryngeal stridor
chpo_term: 先天性喉喘鸣
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
Disease (ORPHA:2253):
Foveal hypoplasia-presenile cataract syndrome
O'Donnell-Pappas syndrome

Associated phenotypes (HPO):
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:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
Disease (ORPHA:2252):
Schmitt-Gillenwater-Kelly syndrome
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0005725
hpo_term: Nonopposable triphalangeal thumb
chpo_term: 不能对指的三节拇指
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
Disease (ORPHA:99735):
Myotonia permanens

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0003720
hpo_term: Generalized muscle hypertrophy
chpo_term: 广泛肌肉肥大
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:99736):
Myotonia-painful contractions syndrome
Acetazolamide-responsive congenital myotonia
ACZ-responsive congenital myotonia
Painful myotonia
Painful congenital myotonia
ACZ-responsive myotonia
Acetazolamide-responsive myotonia

Associated phenotypes (HPO):
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:447896):
Tremor-ataxia-central hypomyelination syndrome
TACH syndrome

Associated phenotypes (HPO):
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:0000511
hpo_term: Vertical supranuclear gaze palsy
chpo_term: 垂直性核上性凝视麻痹
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000617
hpo_term: Abnormality of ocular smooth pursuit
chpo_term: 眼部平稳跟踪异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005341
hpo_term: Autonomic bladder dysfunction
chpo_term: 自主性膀胱功能障碍
id: HP:0025460
hpo_term: High myoinositol in brain by MRS
chpo_term: MRS分析大脑肌醇水平偏高
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0006858
hpo_term: Impaired distal proprioception
chpo_term: 远端本体感觉障碍
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
Disease (ORPHA:99734):
Fluctuating myotonia
Myotonia fluctuans
Exercise-induced delayed-onset myotonia

Associated phenotypes (HPO):
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0100284
hpo_term: EMG: myotonic discharges
chpo_term: 肌电图:肌强直性放电
id: HP:0002491
hpo_term: Spasticity of facial muscles
chpo_term: 面肌痉挛
id: HP:0008967
hpo_term: Exercise-induced muscle stiffness
chpo_term: 运动诱发的肌肉僵硬
id: HP:0012902
hpo_term: Myotonia of the lower limb
chpo_term: 下肢肌强直
id: HP:0012903
hpo_term: Myotonia of the upper limb
chpo_term: 上肢肌强直
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012899
hpo_term: Handgrip myotonia
chpo_term: 抓握性肌强直
id: HP:0012900
hpo_term: Myotonia of the face
chpo_term: 面部肌强直
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003740
hpo_term: Myotonia with warm-up phenomenon
chpo_term: 运动后肌强直现象
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0025425
hpo_term: Laryngospasm
chpo_term: 喉痉挛
id: HP:0030842
hpo_term: Choking episodes
chpo_term: 窒息发作
id: HP:0012904
hpo_term: Cold-sensitive myotonia
chpo_term: 冷敏性肌强直
Disease (ORPHA:2248):
HLHS
Hypoplastic left heart syndrome

Associated phenotypes (HPO):
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001718
hpo_term: Mitral stenosis
chpo_term: 二尖瓣狭窄
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0012304
hpo_term: Hypoplastic aortic arch
chpo_term: 主动脉弓发育不全
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0011560
hpo_term: Mitral atresia
chpo_term: 二尖瓣闭锁
Disease (ORPHA:2246):
Cerebellar hypoplasia-tapetoretinal degeneration syndrome

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:247598):
Neonatal intrahepatic cholestasis due to citrin deficiency
Neonatal intrahepatic cholestasis caused by citrin deficiency
NICCD

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0011966
hpo_term: Elevated plasma citrulline
chpo_term: 血浆瓜氨酸升高
id: HP:0012024
hpo_term: Hypergalactosemia
chpo_term: 高半乳糖血症
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002161
hpo_term: Hyperlysinemia
chpo_term: 高赖氨酸血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003231
hpo_term: Hypertyrosinemia
chpo_term: 高酪氨酸血症
id: HP:0010903
hpo_term: Abnormal circulating glutamine concentration
chpo_term: 谷氨酰胺代谢异常
id: HP:0010909
hpo_term: Abnormal circulating arginine concentration
chpo_term: 精氨酸代谢异常
id: HP:0010916
hpo_term: Abnormal circulating alanine concentration
chpo_term: 丙氨酸代谢异常
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003141
hpo_term: Increased LDL cholesterol concentration
chpo_term: 高β-脂蛋白血症
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0003235
hpo_term: Hypermethioninemia
chpo_term: 高甲硫胺酸血症
id: HP:0003354
hpo_term: Hyperthreoninemia
chpo_term: 高苏氨酸血症
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0012278
hpo_term: Abnormal circulating serine concentration
chpo_term: 丝氨酸代谢异常
id: HP:0040301
hpo_term: Increased urinary glycerol
chpo_term: 尿液甘油增高
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血