TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:444051):
20q11.2 microdeletion syndrome
Monosomy 20q11
Del(20)(q11.2)

Associated phenotypes (HPO):
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001884
hpo_term: Talipes calcaneovalgus
chpo_term: 跟骨畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002508
hpo_term: Brainstem dysplasia
chpo_term: 脑干发育不良
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0040019
hpo_term: Finger clinodactyly
chpo_term: 指弯曲
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
Disease (ORPHA:3197):
Congenital stiff man syndrome
Kok disease
Stiff baby syndrome
Familial startle disease
Hereditary hyperekplexia
Hereditary hyperexplexia

Associated phenotypes (HPO):
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
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:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
Disease (ORPHA:16):
Atypical X-linked achromatopsia
S cone monochromatism
X-linked incomplete achromatopsia
Color blindness, blue monocone monochromatic type
S cone monochromacy
Blue cone monochromatism
Blue cone monochromacy

Associated phenotypes (HPO):
id: HP:0007939
hpo_term: Blue cone monochromacy
chpo_term: 蓝锥单色盲
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0025549
hpo_term: Eccentric visual fixation
chpo_term: 偏心注视
id: HP:0030619
hpo_term: Reduced OCT-measured foveal thickness
chpo_term: OCT 测量法中心凹厚度减小
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:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
Disease (ORPHA:101007):
Autosomal recessive spastic paraplegia type 27
SPG27

Associated phenotypes (HPO):
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0005340
hpo_term: Spastic/hyperactive bladder
chpo_term: 膀胱痉挛/过度活跃
id: HP:0006938
hpo_term: Impaired vibration sensation at ankles
chpo_term: 脚踝振动觉障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0007377
hpo_term: Abnormality of somatosensory evoked potentials
chpo_term: 体感诱发电位异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
Disease (ORPHA:101008):
Autosomal recessive spastic paraplegia type 28
SPG28

Associated phenotypes (HPO):
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0006944
hpo_term: Abolished vibration sense
chpo_term: 振动觉消失
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
Disease (ORPHA:87884):
Isolated genetic deafness
Isolated genetic hearing loss
Non-syndromic genetic hearing loss
Non-syndromic genetic deafness

Associated phenotypes (HPO):
id: HP:0000399
hpo_term: Prelingual sensorineural hearing impairment
chpo_term: 学语前感音神经性听力损失
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:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001963
hpo_term: Abnormal speech discrimination
chpo_term: 言语辨别异常
id: HP:0008596
hpo_term: Postlingual sensorineural hearing impairment
chpo_term: 学语后感音神经性听力损失
id: HP:0011476
hpo_term: Profound sensorineural hearing impairment
chpo_term: 极重度感音神经性听力损失
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0005101
hpo_term: High-frequency hearing impairment
chpo_term: 高频听力障碍
id: HP:0007670
hpo_term: Abnormal vestibulo-ocular reflex
chpo_term: 前庭眼反射异常
id: HP:0011474
hpo_term: Childhood onset sensorineural hearing impairment
chpo_term: 儿童期发病的感音神经性听觉障碍
id: HP:0012713
hpo_term: Moderate hearing impairment
chpo_term: 中度听力损失
id: HP:0012714
hpo_term: Severe hearing impairment
chpo_term: 重度耳聋
id: HP:0008573
hpo_term: Low-frequency sensorineural hearing impairment
chpo_term: 低频感音神经性听力障碍
Disease (ORPHA:101009):
SPG29
Autosomal dominant spastic paraplegia type 29

Associated phenotypes (HPO):
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0007350
hpo_term: Hyperreflexia in upper limbs
chpo_term: 上肢反射亢进
id: HP:0010936
hpo_term: Abnormality of the lower urinary tract
chpo_term: 下尿路异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002034
hpo_term: Abnormal rectum morphology
chpo_term: 直肠形态结构异常
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
Disease (ORPHA:18):
dRTA
Classic RTA
Familial distal primary acidosis
Renal tubular acidosis type 1
Distal renal tubular acidosis

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0001996
hpo_term: Chronic metabolic acidosis
chpo_term: 慢性代谢性酸中毒
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0004918
hpo_term: Hyperchloremic metabolic acidosis
chpo_term: 高氯性代谢性酸中毒
id: HP:0012405
hpo_term: Hypocitraturia
chpo_term: 低枸橼酸尿
id: HP:0032066
hpo_term: Decreased serum bicarbonate concentration
chpo_term: 血清碳酸氢盐浓度降低
id: HP:0032944
hpo_term: Alkaline urine
chpo_term: 碱性尿
id: HP:0000128
hpo_term: Renal potassium wasting
chpo_term: 肾源性钾流失
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0012608
hpo_term: Hypermagnesiuria
chpo_term: 高镁尿症
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000114
hpo_term: Proximal tubulopathy
chpo_term: 近端肾小管病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0003126
hpo_term: Low-molecular-weight proteinuria
chpo_term: 低分子量蛋白尿
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0011387
hpo_term: Enlarged vestibular aqueduct
chpo_term: 前庭导水管扩大
id: HP:0011964
hpo_term: Intermittent painful muscle spasms
chpo_term: 间歇性痛性肌痉挛
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
Disease (ORPHA:457365):
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010761
hpo_term: Broad columella
chpo_term: 宽鼻小柱
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (ORPHA:3198):
Stiff man spectrum disorder
Moersch-Woltman syndrome
SPS
SMS
Stiff person spectrum disorder

Associated phenotypes (HPO):
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0012894
hpo_term: Paraspinal muscle hypertrophy
chpo_term: 椎旁肌肥大
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:5000002
hpo_term: Anti-Amphiphysin antibody
chpo_term: 抗两性蛋白抗体
id: HP:5000007
hpo_term: Anti-DPPX antibody
chpo_term: 抗DPPX抗体
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0011964
hpo_term: Intermittent painful muscle spasms
chpo_term: 间歇性痛性肌痉挛
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000756
hpo_term: Agoraphobia
chpo_term: 广场恐怖症
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
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:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:5000011
hpo_term: Anti-GAD65 antibody
chpo_term: 抗GAD65抗体
id: HP:5000012
hpo_term: Anti-Gephyrin antibody
chpo_term: 抗桥尾蛋白抗体
id: HP:5000014
hpo_term: Anti-GlyR antibody
chpo_term: 抗GlyR抗体
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
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:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0031825
hpo_term: Freezing of gait
chpo_term: 冻结步态
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
Disease (ORPHA:370980):
CMD-no MR
Congenital muscular dystrophy without intellectual disability
CMD without intellectual disability
Congenital muscular dystrophy-dystroglycanopathy without intellectual disability

Associated phenotypes (HPO):
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001349
hpo_term: Facial diplegia
chpo_term: 双侧面瘫
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
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:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003797
hpo_term: Limb-girdle muscle atrophy
chpo_term: 肢带肌萎缩
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0030099
hpo_term: Reduced muscle fiber alpha dystroglycan
chpo_term: 肌纤维α-肌营养不良蛋白聚糖减少
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002350
hpo_term: Cerebellar cyst
chpo_term: 小脑囊肿
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:318):
AML M6
Erythroleukemia
Acute myeloid leukemia M6
Acute erythroid leukemia

Associated phenotypes (HPO):
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0004828
hpo_term: Refractory anemia with ringed sideroblasts
chpo_term: 难治性贫血伴环状铁粒幼红细胞
id: HP:0005508
hpo_term: Monoclonal immunoglobulin M proteinemia
chpo_term: 单克隆IgM血症
id: HP:0012133
hpo_term: Erythroid hypoplasia
chpo_term: 红系发育不良
id: HP:0025035
hpo_term: Abnormal proerythroblast morphology
chpo_term: 原红细胞形态异常
id: HP:0031020
hpo_term: Bone marrow hypercellularity
chpo_term: 骨髓细胞过多
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
Disease (ORPHA:99867):
Primary thymic epithelial tumor
Primary thymic epithelial neoplasm
Thymoma

Associated phenotypes (HPO):
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0031378
hpo_term: Abnormal lymphocyte proliferation
chpo_term: 淋巴细胞异常增殖
id: HP:0031409
hpo_term: Abnormal lymphocyte physiology
chpo_term: 淋巴细胞生理异常
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0030208
hpo_term: Anti-acetylcholine receptor antibody positivity
chpo_term: 抗乙酰胆碱受体抗体阳性
id: HP:0045026
hpo_term: Abnormality of the mediastinum
chpo_term: 纵膈异常
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0001915
hpo_term: Aplastic anemia
chpo_term: 再生障碍性贫血
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0005560
hpo_term: Imbalanced hemoglobin synthesis
chpo_term: 血红蛋白合成失衡
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0007378
hpo_term: Neoplasm of the gastrointestinal tract
chpo_term: 胃肠道新生物
id: HP:0012288
hpo_term: Neoplasm of head and neck
chpo_term: 头颈部肿瘤
id: HP:0012410
hpo_term: Pure red cell aplasia
chpo_term: 纯红细胞再生障碍性贫血
id: HP:0012539
hpo_term: Non-Hodgkin lymphoma
chpo_term: 非霍奇金淋巴瘤
id: HP:0031041
hpo_term: Obstruction of the superior vena cava
chpo_term: 上腔静脉梗阻
id: HP:0100031
hpo_term: Neoplasm of the thyroid gland
chpo_term: 甲状腺肿瘤
id: HP:0100279
hpo_term: Ulcerative colitis
chpo_term: 溃疡性结肠炎
id: HP:0100324
hpo_term: Scleroderma
chpo_term: 硬皮病
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0100527
hpo_term: Neoplasia of the pleura
chpo_term: 胸膜肿瘤
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0100787
hpo_term: Prostate neoplasm
chpo_term: 前列腺肿瘤
Disease (ORPHA:317):
Erythrokeratodermia variabilis, Mendes da Costa type
EKV
Erythrokeratodermia variabilis

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0005588
hpo_term: Patchy palmoplantar hyperkeratosis
chpo_term: 斑片状掌跖角化病
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0000035
hpo_term: Abnormal testis morphology
chpo_term: 睾丸形态异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:99868):
Malignant thymoma
Thymic carcinoma

Associated phenotypes (HPO):
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0005345
hpo_term: Abnormal vena cava morphology
chpo_term: 腔静脉形态异常
id: HP:0006597
hpo_term: Diaphragmatic paralysis
chpo_term: 膈肌麻痹
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100521
hpo_term: Neoplasm of the thymus
chpo_term: 胸腺肿瘤
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:3199):
Stimmler syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:314):
Leiner disease
Erythroderma desquamativum

Associated phenotypes (HPO):
id: HP:0001051
hpo_term: Seborrheic dermatitis
chpo_term: 脂溢性皮炎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
Disease (ORPHA:313):
Lamellar ichthyosis
LI

Associated phenotypes (HPO):
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
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:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0011039
hpo_term: Abnormal helix morphology
chpo_term: 耳轮形态异常
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
Disease (ORPHA:316):
Erythrokeratodermia progressiva symmetrica
Progressive symmetric erythrokeratodermia
Progressive symmetric erythrokeratodermia, Gottron type
Darier-Gottron disease

Associated phenotypes (HPO):
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块