TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:35125):
Epidermal nevus syndrome
Epidermal hamartoma syndrome

Associated phenotypes (HPO):
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0006827
hpo_term: Atrophy of the spinal cord
chpo_term: 脊髓萎缩
id: HP:0007199
hpo_term: Progressive spastic paraparesis
chpo_term: 进行性痉挛性轻瘫
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
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:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002944
hpo_term: Thoracolumbar scoliosis
chpo_term: 胸腰脊柱侧弯
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0009077
hpo_term: Weakness of long finger extensor muscles
chpo_term: 第三指伸肌无力
id: HP:0010302
hpo_term: Spinal cord tumor
chpo_term: 脊髓肿瘤
id: HP:0012032
hpo_term: Lipoma
chpo_term: 脂肪瘤
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002859
hpo_term: Rhabdomyosarcoma
chpo_term: 横纹肌肉瘤
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0100512
hpo_term: Low levels of vitamin D
chpo_term: 维生素D缺乏症
Disease (ORPHA:35122):
CSID
Congenital sucrase-isomaltase deficiency
Disaccharide intolerance
Congenital sucrose intolerance

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0033589
hpo_term: Flatulence
chpo_term: 肠胃胀气
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0011848
hpo_term: Abdominal colic
chpo_term: 腹部绞痛
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
Disease (ORPHA:2533):
Microcephaly-hearing loss-intellectual disability syndrome
Microcephaly-deafness-intellectual disability syndrome
Kawashima-Tsuji syndrome

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
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:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
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:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:500180):
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
Disease (ORPHA:189):
Hidrotic ectodermal dysplasia
Clouston syndrome

Associated phenotypes (HPO):
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002215
hpo_term: Sparse axillary hair
chpo_term: 腋毛稀疏
id: HP:0002221
hpo_term: Absent axillary hair
chpo_term: 腋毛稀疏
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0002225
hpo_term: Sparse pubic hair
chpo_term: 阴毛稀疏
id: HP:0002555
hpo_term: Absent pubic hair
chpo_term: 阴毛缺失
id: HP:0004528
hpo_term: Generalized hypotrichosis
chpo_term: 泛发性少毛症
id: HP:0004779
hpo_term: Brittle scalp hair
chpo_term: 头发干枯
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0008383
hpo_term: Slow-growing nails
chpo_term: 甲生长缓慢
id: HP:0011911
hpo_term: Abnormal metacarpophalangeal joint morphology
chpo_term: 掌指关节形态异常
id: HP:0031288
hpo_term: Cobblestone-like hyperkeratosis
chpo_term: 鹅卵石样角化过度
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
Disease (ORPHA:188):
Capillary hyperpermeability syndrome
Systemic capillary leak syndrome
Clarkson disease
SCLS
Capillary leak syndrome
Idiopathic capillary leak syndrome

Associated phenotypes (HPO):
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025142
hpo_term: Constitutional symptom
chpo_term: 全身性症状
id: HP:0031417
hpo_term: Rhinorrhea
chpo_term: 鼻溢液
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000091
hpo_term: Abnormal renal tubule morphology
chpo_term: 肾小管形态异常
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0006543
hpo_term: Cardiorespiratory arrest
chpo_term: 心跳呼吸骤停
id: HP:0006775
hpo_term: Multiple myeloma
chpo_term: 多发性骨髓瘤
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0100520
hpo_term: Oliguria
chpo_term: 少尿症
Disease (ORPHA:185):
Halasz syndrome
Hypogenetic lung syndrome
Epibronchial right pulmonary vein syndrome
Scimitar syndrome
Congenital pulmonary venolobar syndrome

Associated phenotypes (HPO):
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
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:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
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:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0004971
hpo_term: Pulmonary artery hypoplasia
chpo_term: 肺动脉发育不全
id: HP:0005345
hpo_term: Abnormal vena cava morphology
chpo_term: 腔静脉形态异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0001750
hpo_term: Single ventricle
chpo_term: 单心室
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0010772
hpo_term: Anomalous pulmonary venous return
chpo_term: 肺静脉回流异常
id: HP:0010773
hpo_term: Partial anomalous pulmonary venous return
chpo_term: 部分肺静脉回流异常
id: HP:0011560
hpo_term: Mitral atresia
chpo_term: 二尖瓣闭锁
id: HP:0012382
hpo_term: Left-to-right shunt
chpo_term: 左向右分流
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025495
hpo_term: Descending aorta hypoplasia
chpo_term: 降主动脉发育不良
id: HP:0040044
hpo_term: Hypoplasia of the diaphragm
chpo_term: 横膈膜发育不全
id: HP:0040045
hpo_term: Abnormal hemidiaphragm morphology
chpo_term: 单侧横膈形态异常
id: HP:0100632
hpo_term: Pulmonary sequestration
chpo_term: 肺隔离症
id: HP:0100730
hpo_term: Bronchogenic cyst
chpo_term: 支气管囊肿
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0001660
hpo_term: Truncus arteriosus
chpo_term: 动脉干
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0011638
hpo_term: Anomalous origin of left coronary artery from the pulmonary artery
chpo_term: 肺动脉源性左冠状动脉起源异常
id: HP:0011662
hpo_term: Tricuspid atresia
chpo_term: 三尖瓣闭锁
id: HP:0011670
hpo_term: Left superior vena cava draining to coronary sinus
chpo_term: 左上腔静脉接冠状窦
id: HP:0011671
hpo_term: Interrupted inferior vena cava with azygous continuation
chpo_term: 下腔静脉中断伴奇静脉延续
id: HP:0012722
hpo_term: Heart block
chpo_term: 心脏传导阻滞
Disease (ORPHA:184):
Cherubism
CRBM

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000277
hpo_term: Abnormal mandible morphology
chpo_term: 下颌骨形态异常
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0012802
hpo_term: Broad jaw
chpo_term: 宽下颌
Disease (ORPHA:401942):
Familial median cleft of the upper and lower lips

Associated phenotypes (HPO):
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000277
hpo_term: Abnormal mandible morphology
chpo_term: 下颌骨形态异常
id: HP:0000309
hpo_term: Abnormal midface morphology
chpo_term: 面中部形态异常
id: HP:0000326
hpo_term: Abnormality of the maxilla
chpo_term: 上颌骨异常
id: HP:0000699
hpo_term: Diastema
chpo_term: 牙间隙
id: HP:0010281
hpo_term: Cleft lower lip
chpo_term: 下唇裂
id: HP:0012292
hpo_term: Fusion of gums
chpo_term: 牙龈融合
id: HP:0040079
hpo_term: Irregular dentition
chpo_term: 牙列不规则
id: HP:3000010
hpo_term: Abnormality of orbicularis oris muscle
chpo_term: 口轮匝肌异常
Disease (ORPHA:186):
Primary biliary cirrhosis
Hanot syndrome
Primary biliary cholangitis
PBC

Associated phenotypes (HPO):
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002613
hpo_term: Biliary cirrhosis
chpo_term: 胆汁性肝硬化
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0011971
hpo_term: Dermatographic urticaria
chpo_term: 皮肤划痕症
id: HP:0030167
hpo_term: Antimitochondrial antibody positivity
chpo_term: 线粒体抗体阳性
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
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:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002841
hpo_term: Recurrent fungal infections
chpo_term: 反复真菌感染
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
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:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0011040
hpo_term: Abnormal intrahepatic bile duct morphology
chpo_term: 肝内胆管形态异常
id: HP:0012203
hpo_term: Onychomycosis
chpo_term: 甲癣
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0004386
hpo_term: Gastrointestinal inflammation
chpo_term: 胃肠道炎症
Disease (ORPHA:181):
Christ-Siemens-Touraine syndrome
X-linked anhidrotic ectodermal dysplasia
XHED
X-linked hypohidrotic ectodermal dysplasia

Associated phenotypes (HPO):
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0010803
hpo_term: Everted upper lip vermilion
chpo_term: 上唇唇红外翻
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000830
hpo_term: Anterior hypopituitarism
chpo_term: 垂体前叶功能减退症
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:180):
Tapetochoroidal dystrophy
Choroideremia
CHM

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:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0001139
hpo_term: Choroideremia
chpo_term: 无脉络膜症
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0030602
hpo_term: Abnormal fundus autofluorescence imaging
chpo_term: 眼底自发荧光成像异常
id: HP:0040049
hpo_term: Macular edema
chpo_term: 黄斑水肿
Disease (ORPHA:401945):
Moyamoya disease with early-onset achalasia

Associated phenotypes (HPO):
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0011834
hpo_term: Moyamoya phenomenon
chpo_term: 烟雾现象
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0030402
hpo_term: Abnormal platelet aggregation
chpo_term: 血小板聚集异常
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
Disease (ORPHA:182):
Chromoblastomycosis
Chromomycosis

Associated phenotypes (HPO):
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0003550
hpo_term: Predominantly lower limb lymphedema
chpo_term: 主要累及下肢的淋巴水肿
id: HP:0012500
hpo_term: Verrucous papule
chpo_term: 疣状丘疹
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0025475
hpo_term: Erythematous macule
chpo_term: 红斑病
id: HP:0025527
hpo_term: Serpiginous cutaneous lesion
chpo_term: 匐行性皮肤病变
id: HP:0025528
hpo_term: Annular cutaneous lesion
chpo_term: 环状皮肤病变
id: HP:0040009
hpo_term: Hyperparakeratosis
chpo_term: 过度角化不全
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002817
hpo_term: Abnormality of the upper limb
chpo_term: 上肢异常
id: HP:0011276
hpo_term: Vascular skin abnormality
chpo_term: 皮肤血管异常
id: HP:0031842
hpo_term: Lymphangiectasis
chpo_term: 淋巴管扩张
id: HP:0000163
hpo_term: Abnormal oral cavity morphology
chpo_term: 口腔形态异常
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0007606
hpo_term: Multiple cutaneous malignancies
chpo_term: 多发性皮肤恶性肿瘤
id: HP:0011334
hpo_term: Facial shape deformation
chpo_term: 脸型异常
id: HP:0031013
hpo_term: Ankylosis
chpo_term: 关节僵硬
id: HP:0500043
hpo_term: Eyelid retraction
chpo_term: 眼睑挛缩
Disease (ORPHA:2524):
Pontocerebellar hypoplasia type 2
PCH2

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0006850
hpo_term: Hypoplasia of the ventral pons
chpo_term: 腹侧桥脑发育不良
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0031162
hpo_term: Impaired oropharyngeal swallow response
chpo_term: 吞咽反应障碍
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002268
hpo_term: Paroxysmal dystonia
chpo_term: 阵发性肌张力障碍
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0200136
hpo_term: Oral-pharyngeal dysphagia
chpo_term: 口咽部吞咽困难
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002536
hpo_term: Abnormal cortical gyration
chpo_term: 脑皮质沟回异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003558
hpo_term: Viral infection-induced rhabdomyolysis
chpo_term: 病毒感染诱导的横纹肌瘤
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0011171
hpo_term: Simple febrile seizure
chpo_term: 单纯型热性惊厥
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0012765
hpo_term: Widened cerebellar subarachnoid space
chpo_term: 增宽的小脑蛛网膜下腔
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0200049
hpo_term: Upper limb hypertonia
chpo_term: 上肢张力增高
id: HP:0002350
hpo_term: Cerebellar cyst
chpo_term: 小脑囊肿
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常