TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:158673):
Localized DEB, acral form
Localized dystrophic epidermolysis bullosa, acral form

Associated phenotypes (HPO):
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0007473
hpo_term: Crusting erythematous dermatitis
chpo_term: 结痂性红斑样皮炎
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0031045
hpo_term: Acral blistering
chpo_term: 肢端水泡
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0008390
hpo_term: Recurrent loss of toenails and fingernails
chpo_term: 指（趾）甲反复脱落
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
Disease (ORPHA:2048):
Bilateral anterior opercular syndrome
Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation
Facio-pharyngo-glosso-masticatory diplegia
Foix-Chavany-Marie syndrome

Associated phenotypes (HPO):
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
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:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:2047):
Flynn-Aird syndrome

Associated phenotypes (HPO):
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
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:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:99926):
Gestational choriocarcinoma

Associated phenotypes (HPO):
id: HP:0100768
hpo_term: Choriocarcinoma
chpo_term: 绒癌
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0011433
hpo_term: High maternal circulating chorionic gonadotropin concentration
chpo_term: 母体循环绒毛膜促性腺激素水平高
id: HP:0031502
hpo_term: Trophoblastic tumor
chpo_term: 滋养细胞肿瘤
id: HP:0100608
hpo_term: Metrorrhagia
chpo_term: 子宫出血
Disease (ORPHA:2045):
FLOTCH syndrome
Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome

Associated phenotypes (HPO):
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0100533
hpo_term: Inflammatory abnormality of the eye
chpo_term: 眼睛的炎性异常
Disease (ORPHA:99927):
Hydatidiform mole
Molar pregnancy

Associated phenotypes (HPO):
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0100602
hpo_term: Preeclampsia
chpo_term: 先兆子痫
id: HP:0100878
hpo_term: Enlarged uterus
chpo_term: 子宫增大
id: HP:0400008
hpo_term: Menometrorrhagia
chpo_term: 月经过多
Disease (ORPHA:225147):
Sporadic infantile bilateral striatal necrosis
ABSN
Sporadic infantile striatonigral degeneration
Acute bilateral striatal necrosis
Sporadic IBSN
Sporadic infantile striatonigral necrosis

Associated phenotypes (HPO):
id: HP:0000273
hpo_term: Facial grimacing
chpo_term: 面部表情痛苦
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002533
hpo_term: Abnormal posturing
chpo_term: 姿势异常
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0030215
hpo_term: Inappropriate crying
chpo_term: 不合时宜的哭泣
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
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:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0005366
hpo_term: Recurrent streptococcus pneumoniae infections
chpo_term: 复发性链球菌感染肺炎
id: HP:0007158
hpo_term: Progressive extrapyramidal muscular rigidity
chpo_term: 进行性锥体外系肌肉僵直
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0011151
hpo_term: Atypical absence status epilepticus
chpo_term: 非典型失神癫痫持续状态
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0030187
hpo_term: Titubation
chpo_term: 蹒跚
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
Disease (ORPHA:352470):
Mitochondrial DNA deletion syndrome with limb-girdle weakness
Mitochondrial DNA deletion syndrome with progressive myopathy
DNA2-related mitochondrial DNA deletion syndrome
mtDNA deletion syndrome with progressive myopathy
mtDNA deletion syndrome with limb-girdle weakness

Associated phenotypes (HPO):
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
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:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0004673
hpo_term: Decreased facial expression
chpo_term: 面部表情减少
id: HP:0007970
hpo_term: Congenital ptosis
chpo_term: 先天性上睑下垂
id: HP:0008331
hpo_term: Elevated creatine kinase after exercise
chpo_term: 运动后肌酸激酶升高
id: HP:0040013
hpo_term: Decreased mitochondrial number
chpo_term: 线粒体数量减少
Disease (ORPHA:99928):
Placental site trophoblastic tumor
PSST

Associated phenotypes (HPO):
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0011434
hpo_term: Low maternal circulating chorionic gonadotropin concentration
chpo_term: 母体循环绒毛膜促性腺激素水平低
id: HP:0100608
hpo_term: Metrorrhagia
chpo_term: 子宫出血
Disease (ORPHA:275766):
Primary pulmonary arterial hypertension
IPAH
Idiopathic pulmonary arterial hypertension

Associated phenotypes (HPO):
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0004890
hpo_term: Elevated pulmonary artery pressure
chpo_term: 肺动脉压升高
id: HP:0005317
hpo_term: Increased pulmonary vascular resistance
chpo_term: 肺血管阻力增加
id: HP:3000042
hpo_term: Abnormal jugular vein morphology
chpo_term: 颈静脉形态异常
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001785
hpo_term: Ankle swelling
chpo_term: 踝关节肿胀
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0012098
hpo_term: Edema of the dorsum of feet
chpo_term: 足背水肿
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0003549
hpo_term: Abnormality of connective tissue
chpo_term: 结缔组织异常
id: HP:0004870
hpo_term: Chronic hemolytic anemia
chpo_term: 慢性溶血性贫血
Disease (ORPHA:3374):
Triopia
Triophthalmia
Unilateral diplophthalmia
Unilateral ocular duplication
Unilateral diplophthalmos

Associated phenotypes (HPO):
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0000235
hpo_term: Abnormality of the fontanelles or cranial sutures
chpo_term: 囟门或颅缝异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000615
hpo_term: Abnormal pupil morphology
chpo_term: 瞳孔形态异常
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0100629
hpo_term: Midline facial cleft
chpo_term: 面中裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
Disease (ORPHA:275761):
LAL deficiency
Lysosomal acid lipase deficiency
LALD

Associated phenotypes (HPO):
id: HP:0000127
hpo_term: Renal salt wasting
chpo_term: 肾源性盐流失
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000991
hpo_term: Xanthomatosis
chpo_term: 黄瘤病
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001414
hpo_term: Microvesicular hepatic steatosis
chpo_term: 小泡性肝脂肪变性
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001922
hpo_term: Vacuolated lymphocytes
chpo_term: 空泡淋巴细胞
id: HP:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001971
hpo_term: Hypersplenism
chpo_term: 脾功能亢进
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002361
hpo_term: Psychomotor deterioration
chpo_term: 精神运动性恶化
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0012605
hpo_term: Hypernatriuria
chpo_term: 高钠尿症
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0004333
hpo_term: Bone-marrow foam cells
chpo_term: 骨髓泡沫细胞
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0004416
hpo_term: Precocious atherosclerosis
chpo_term: 早发性动脉粥样硬化
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0006583
hpo_term: Fatal liver failure in infancy
chpo_term: 婴儿期致命性肝功能衰竭
id: HP:0010512
hpo_term: Adrenal calcification
chpo_term: 肾上腺钙化
id: HP:0011106
hpo_term: Hypovolemia
chpo_term: 血容量不足
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012598
hpo_term: Abnormal urine potassium concentration
chpo_term: 尿钾浓度异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:3375):
Triplo-X syndrome
Trisomy X syndrome
47,XXX syndrome
XXX syndrome

Associated phenotypes (HPO):
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
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:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
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:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
Disease (ORPHA:3376):
Triploidy syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000235
hpo_term: Abnormality of the fontanelles or cranial sutures
chpo_term: 囟门或颅缝异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
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:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
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:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0001732
hpo_term: Abnormality of the pancreas
chpo_term: 胰腺异常
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0005264
hpo_term: Abnormality of the gallbladder
chpo_term: 胆囊异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:36367):
Distal deletion 1q syndrome
Telomeric deletion 1q
Monosomy 1qter
Distal monosomy 1q

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
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:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
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: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:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
Disease (ORPHA:3377):
Distal arthrogryposis type 7
Dutch-Kentucky syndrome
Trismus-pseudocamptodactyly syndrome
Hecht-Beals syndrome
Hecht syndrome

Associated phenotypes (HPO):
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
Disease (ORPHA:99925):
Invasive mole

Associated phenotypes (HPO):
id: HP:0011433
hpo_term: High maternal circulating chorionic gonadotropin concentration
chpo_term: 母体循环绒毛膜促性腺激素水平高
id: HP:0400008
hpo_term: Menometrorrhagia
chpo_term: 月经过多
Disease (ORPHA:352479):
Autosomal recessive limb-girdle muscular dystrophy type 2U
LGMD type 2U
ISPD-related limb-girdle muscular dystrophy R20
LGMD2U
Limb-girdle muscular dystrophy type 2U
ISPD-related LGMD R20

Associated phenotypes (HPO):
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0030046
hpo_term: Hypoglycosylation of alpha-dystroglycan
chpo_term: α-抗肌萎缩蛋白聚糖糖基化不良
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0002792
hpo_term: Reduced vital capacity
chpo_term: 肺活量减少
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003707
hpo_term: Calf muscle pseudohypertrophy
chpo_term: 小腿肌肉假性肥大
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0030234
hpo_term: Highly elevated creatine kinase
chpo_term: 肌酸磷酸激酶明显上升
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0008305
hpo_term: Exercise-induced myoglobinuria
chpo_term: 运动后肌红蛋白尿
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0011446
hpo_term: Abnormality of higher mental function
chpo_term: 高级精神功能异常