TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:36258):
Thromboangiitis obliterans
Buerger disease

Associated phenotypes (HPO):
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0004420
hpo_term: Arterial thrombosis
chpo_term: 动脉血栓形成
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0001063
hpo_term: Acrocyanosis
chpo_term: 手足发绀
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0004417
hpo_term: Intermittent claudication
chpo_term: 间歇性跛行
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0033402
hpo_term: Digital ischemia
chpo_term: 指端缺血
id: HP:0033505
hpo_term: Livedo reticularis
chpo_term: 网状青斑
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0002638
hpo_term: Superficial thrombophlebitis
chpo_term: 浅表性血栓性静脉炎
id: HP:0031006
hpo_term: Acroparesthesia
chpo_term: 肢端感觉障碍
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0025324
hpo_term: Arterial occlusion
chpo_term: 动脉闭塞
Disease (ORPHA:94122):
Cerebellar ataxia, Cayman type
Cayman ataxia

Associated phenotypes (HPO):
id: HP:0002470
hpo_term: Nonprogressive cerebellar ataxia
chpo_term: 非进行性小脑性共济失调
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0000479
hpo_term: Abnormal retinal morphology
chpo_term: 视网膜形态异常
Disease (ORPHA:3268):
Radioulnar synostosis-microcephaly-scoliosis syndrome
Tsukahara syndrome
Giuffré-Tsukahara syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000288
hpo_term: Abnormality of the philtrum
chpo_term: 人中异常
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
Disease (ORPHA:95459):
Congenital tricuspid stenosis

Associated phenotypes (HPO):
id: HP:0010446
hpo_term: Tricuspid stenosis
chpo_term: 三尖瓣狭窄
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0006689
hpo_term: Bacterial endocarditis
chpo_term: 细菌性心内膜炎
id: HP:0100570
hpo_term: Carcinoid tumor
chpo_term: 类癌
Disease (ORPHA:3269):
Isolated congenital radioulnar fusion
Isolated radio-ulnar synostosis

Associated phenotypes (HPO):
id: HP:0002818
hpo_term: Abnormal morphology of the radius
chpo_term: 桡骨形态异常
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0006394
hpo_term: Limited pronation/supination of forearm
chpo_term: 前臂旋前或旋后受限
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
id: HP:0001457
hpo_term: Abnormality of the musculature of the upper arm
chpo_term: 上臂肌肉异常
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0030834
hpo_term: Shoulder pain
chpo_term: 肩痛
id: HP:0030836
hpo_term: Wrist pain
chpo_term: 手腕关节痛
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
Disease (ORPHA:94125):
Recessive mitochondrial ataxia syndrome
MIRAS

Associated phenotypes (HPO):
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
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:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
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:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0002406
hpo_term: Limb dysmetria
chpo_term: 肢体辨距不良
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012079
hpo_term: Abnormality of central motor conduction
chpo_term: 中枢运动传导异常
id: HP:0012251
hpo_term: ST segment elevation
chpo_term: ST段抬高
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
Disease (ORPHA:51890):
Anterior cutaneous nerve entrapment syndrome
Rectus abdominis syndrome
Intercostal nerve syndrome
ACNES

Associated phenotypes (HPO):
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0012533
hpo_term: Allodynia
chpo_term: 痛觉过敏
id: HP:0100963
hpo_term: Hyperesthesia
chpo_term: 感觉过敏
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0004798
hpo_term: Recurrent infection of the gastrointestinal tract
chpo_term: 胃肠道复发性感染
Disease (ORPHA:75840):
UCMD
Ullrich congenital muscular dystrophy
Ullrich scleroatonic muscular dystrophy

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0004303
hpo_term: Abnormal muscle fiber morphology
chpo_term: 肌纤维形态异常
id: HP:0005072
hpo_term: Hyperextensibility at wrists
chpo_term: 手腕背伸过度
id: HP:0006149
hpo_term: Increased laxity of fingers
chpo_term: 手指过度松弛
id: HP:0100297
hpo_term: Increased endomysial connective tissue
chpo_term: 肌内膜结缔组织增加
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0009113
hpo_term: Diaphragmatic weakness
chpo_term: 膈肌无力
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
Disease (ORPHA:99811):
Neuronal intestinal pseudoobstruction

Associated phenotypes (HPO):
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
Disease (ORPHA:263516):
Progressive myoclonic epilepsy type 3
PME type 3
EPM3
Progressive myoclonus epilepsy type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0007221
hpo_term: Progressive truncal ataxia
chpo_term: 进行性躯干共济失调
id: HP:0007272
hpo_term: Progressive psychomotor deterioration
chpo_term: 进行性精神运动恶化
id: HP:0011166
hpo_term: Focal myoclonic seizure
chpo_term: 局灶性肌阵挛发作
id: HP:0011188
hpo_term: Focal EEG discharges with secondary generalization
chpo_term: 局灶性脑放电继发泛化
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001327
hpo_term: Photosensitive myoclonic seizure
chpo_term: 光敏性肌阵挛发作
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
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:0011185
hpo_term: EEG with focal epileptiform discharges
chpo_term: 脑电图局灶性癫痫样放电
id: HP:0012462
hpo_term: Chin myoclonus
chpo_term: 下颌肌阵挛
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
Disease (ORPHA:447980):
Dup(19)(p13.3)
19p13.3 microduplication syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
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:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
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:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
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:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012741
hpo_term: Unilateral cryptorchidism
chpo_term: 单侧隐睾
id: HP:0030043
hpo_term: Hip subluxation
chpo_term: 髋关节半脱位
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
Disease (ORPHA:238578):
Hereditary clubfoot due to 17q23.1-q23.2 microduplication
Familial clubfoot due to 17q23.1q23.2 microduplication

Associated phenotypes (HPO):
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:3250):
Proximal symphalangism
Symphalangism, Cushing type

Associated phenotypes (HPO):
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0100264
hpo_term: Proximal symphalangism
chpo_term: 近端指关节融合
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0003070
hpo_term: Elbow ankylosis
chpo_term: 肘运动受限
id: HP:0005880
hpo_term: Metacarpophalangeal synostosis
chpo_term: 掌指关节骨性融合
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0040019
hpo_term: Finger clinodactyly
chpo_term: 指弯曲
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
Disease (ORPHA:83465):
Narcolepsy type 2
Narcolepsy without cataplexy

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
Disease (ORPHA:83463):
Microtia

Associated phenotypes (HPO):
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0040119
hpo_term: Unilateral conductive hearing impairment
chpo_term: 单侧传导性听力障碍
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0008589
hpo_term: Hypoplastic helices
chpo_term: 耳轮发育不全
id: HP:0009892
hpo_term: Anotia
chpo_term: 无耳畸形
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
Disease (ORPHA:83469):
DSRCT
Desmoplastic small round cell tumor

Associated phenotypes (HPO):
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: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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002585
hpo_term: Abnormality of the peritoneum
chpo_term: 腹膜异常
id: HP:0002595
hpo_term: Ileus
chpo_term: 肠梗阻
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002894
hpo_term: Neoplasm of the pancreas
chpo_term: 胰腺肿瘤
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0010788
hpo_term: Testicular neoplasm
chpo_term: 睾丸肿瘤
id: HP:0100006
hpo_term: Neoplasm of the central nervous system
chpo_term: 中枢神经系统的肿瘤
id: HP:0100242
hpo_term: Sarcoma
chpo_term: 肉瘤
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
Disease (ORPHA:83468):
Unicameral bone cyst
Solitary bone cyst

Associated phenotypes (HPO):
id: HP:0012064
hpo_term: Unicameral bone cyst
chpo_term: 单房性骨囊肿
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0003926
hpo_term: Abnormal humeral diaphysis morphology
chpo_term: 肱骨骨干形态异常
id: HP:0006431
hpo_term: Proximal femoral metaphyseal abnormality
chpo_term: 股骨近端干骺端异常
id: HP:0100253
hpo_term: Abnormality of the medullary cavity of the long bones
chpo_term: 长骨髓腔异常
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0012428
hpo_term: Prominent calcaneus
chpo_term: 跟骨突出
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0002143
hpo_term: Abnormality of the spinal cord
chpo_term: 脊髓异常
id: HP:0002696
hpo_term: Abnormal parietal bone morphology
chpo_term: 顶骨形态异常
id: HP:0002867
hpo_term: Abnormal ilium morphology
chpo_term: 髂骨形态异常
id: HP:0003172
hpo_term: Abnormality of the pubic bone
chpo_term: 耻骨异常
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0003979
hpo_term: Lytic defects of the radius
chpo_term: 桡骨溶骨缺陷
id: HP:0100748
hpo_term: Muscular edema
chpo_term: 肌肉水肿
Disease (ORPHA:83467):
Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome
Morvan fibrillary chorea
Morvan syndrome

Associated phenotypes (HPO):
id: HP:5000005
hpo_term: Anti-CASPR2
chpo_term: 抗CASPR2
Disease (ORPHA:83472):
CAMOS syndrome
Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
SCAR5

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0007153
hpo_term: Progressive extrapyramidal movement disorder
chpo_term: 进行性锥体外系功能障碍
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
Disease (ORPHA:83471):
Isolated thymic defect due to thymic aplasia/hypoplasia
T-cell immunodeficiency with thymic aplasia
Nezelof syndrome
Isolated aplasia/hypoplasia of the thymus
Isolated congenital athymia
Isolated congenital thymic aplasia/hypoplasia

Associated phenotypes (HPO):
id: HP:0005359
hpo_term: Aplasia of the thymus
chpo_term: 胸腺发育不全
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0005352
hpo_term: Severe T-cell immunodeficiency
chpo_term: 重度T细胞免疫缺陷
id: HP:0005374
hpo_term: Cellular immunodeficiency
chpo_term: 细胞免疫缺陷
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0031381
hpo_term: Decreased lymphocyte proliferation in response to mitogen
chpo_term: 淋巴细胞有丝分裂原应答性增殖减弱
id: HP:0031397
hpo_term: Decreased proportion of naive T cells
chpo_term: 初始 T 细胞比例减低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0004798
hpo_term: Recurrent infection of the gastrointestinal tract
chpo_term: 胃肠道复发性感染
id: HP:0031690
hpo_term: Opportunistic infection
chpo_term: 机会性感染
id: HP:0031691
hpo_term: Severe viral infection
chpo_term: 重症病毒感染
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002726
hpo_term: Recurrent Staphylococcus aureus infections
chpo_term: 反复金黄色葡萄球菌感染
id: HP:0003472
hpo_term: Hypocalcemic tetany
chpo_term: 低钙搐搦
id: HP:0004844
hpo_term: Coombs-positive hemolytic anemia
chpo_term: Coombs试验阳性溶血性贫血
id: HP:0005366
hpo_term: Recurrent streptococcus pneumoniae infections
chpo_term: 复发性链球菌感染肺炎
id: HP:0005387
hpo_term: Combined immunodeficiency
chpo_term: 联合免疫缺陷
id: HP:0005401
hpo_term: Recurrent candida infections
chpo_term: 反复念珠菌感染
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0020101
hpo_term: Invasive fungal infection
chpo_term: 侵袭性真菌感染
id: HP:0031430
hpo_term: Oligoclonal T cell expansion
chpo_term: 寡克隆T细胞扩增
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0200122
hpo_term: Atypical or prolonged hepatitis
chpo_term: 非典型或持续性肝炎