TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:443804):
Focal stiff-person syndrome
Stiff leg syndrome
Focal stiff limb syndrome

Associated phenotypes (HPO):
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:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0025329
hpo_term: Anti-glutamic acid decarboxylase antibody positivity
chpo_term: 抗谷氨酸脱羧酶抗体阳性
id: HP:0100283
hpo_term: EMG: continuous motor unit activity at rest
chpo_term: EMG:休息中持续的运动单元活动
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0031825
hpo_term: Freezing of gait
chpo_term: 冻结步态
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
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:5000012
hpo_term: Anti-Gephyrin antibody
chpo_term: 抗桥尾蛋白抗体
Disease (ORPHA:93921):
Full SWN
Full NF3
Full neurofibromatosis type 3
Nonmosaic schwannomatosis
Full schwannomatosis
Neurilemmomatosis

Associated phenotypes (HPO):
id: HP:0100008
hpo_term: Schwannoma
chpo_term: 神经鞘瘤
id: HP:0009593
hpo_term: Peripheral Schwannoma
chpo_term: 周围神经鞘瘤
id: HP:0010302
hpo_term: Spinal cord tumor
chpo_term: 脊髓肿瘤
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0000131
hpo_term: Uterine leiomyoma
chpo_term: 子宫肌瘤
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0012032
hpo_term: Lipoma
chpo_term: 脂肪瘤
id: HP:0410275
hpo_term: Lumbosacral hemangioma
chpo_term: 腰骶部血管瘤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001621
hpo_term: Weak voice
chpo_term: 嗓音微弱
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002858
hpo_term: Meningioma
chpo_term: 脑膜瘤
id: HP:0011750
hpo_term: Neoplasm of the anterior pituitary
chpo_term: 垂体前叶肿瘤
id: HP:0033748
hpo_term: Hypoesthesia
chpo_term: 感觉迟钝
id: HP:0009589
hpo_term: Bilateral vestibular schwannoma
chpo_term: 双侧前庭神经鞘瘤
Disease (ORPHA:159):
Carnitine-acylcarnitine translocase deficiency
CACT deficiency

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001985
hpo_term: Hypoketotic hypoglycemia
chpo_term: 低酮性低血糖
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0003215
hpo_term: Dicarboxylic aciduria
chpo_term: 二羧酸尿症
id: HP:0003234
hpo_term: Decreased plasma carnitine
chpo_term: 血浆肉碱降低
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0008331
hpo_term: Elevated creatine kinase after exercise
chpo_term: 运动后肌酸激酶升高
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0045045
hpo_term: Elevated circulating acylcarnitine concentration
chpo_term: 血浆酰基肉碱水平升高
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002882
hpo_term: Sudden episodic apnea
chpo_term: 突然发作性呼吸暂停
id: HP:0100520
hpo_term: Oliguria
chpo_term: 少尿症
id: HP:0100602
hpo_term: Preeclampsia
chpo_term: 先兆子痫
Disease (ORPHA:370348):
Peripheral primitive neuroectodermal tumor
Peripheral neuroepithelioma
Peripheral PNET
PPNET

Associated phenotypes (HPO):
id: HP:0030067
hpo_term: Peripheral primitive neuroectodermal neoplasm
chpo_term: 外周原始神经外胚层肿瘤
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
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:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001965
hpo_term: Abnormal scalp morphology
chpo_term: 头皮形态异常
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
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:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0010302
hpo_term: Spinal cord tumor
chpo_term: 脊髓肿瘤
id: HP:0010784
hpo_term: Uterine neoplasm
chpo_term: 子宫肿瘤
id: HP:0012513
hpo_term: Upper limb pain
chpo_term: 上肢疼痛
id: HP:0030692
hpo_term: Brain neoplasm
chpo_term: 脑肿瘤
id: HP:0031030
hpo_term: Elevated carcinoma antigen 125 level
chpo_term: 癌抗原CA125水平增高
id: HP:0031501
hpo_term: Pelvic mass
chpo_term: 盆腔肿块
id: HP:0100608
hpo_term: Metrorrhagia
chpo_term: 子宫出血
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0100711
hpo_term: Abnormal thoracic spine morphology
chpo_term: 胸椎形态异常
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0011932
hpo_term: Abnormal superior cerebellar peduncle morphology
chpo_term: 小脑上脚形态异常
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0100849
hpo_term: Neoplasm of the scrotum
chpo_term: 阴囊肿瘤
Disease (ORPHA:112):
Bartter syndrome
Renal tubular normotensive hypokalemic alkalosis with hypercalciuria
Salt-losing tubular disorder, Henle's loop type
Salt-wasting tubulopathy, Henle's loop type

Associated phenotypes (HPO):
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:111):
Barth syndrome
Cardioskeletal myopathy-neutropenia syndrome
MGA2
X-linked cardioskeletal myopathy and neutropenia
BTHS
Cardioskeletal myopathy with neutropenia and abnormal mitochondria
3-methylglutaconic aciduria type 2

Associated phenotypes (HPO):
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001706
hpo_term: Endocardial fibroelastosis
chpo_term: 心内膜弹力纤维增生症
id: HP:0001874
hpo_term: Abnormality of neutrophils
chpo_term: 中性粒细胞异常
id: HP:0008322
hpo_term: Abnormal mitochondrial morphology
chpo_term: 线粒体形态异常
Disease (ORPHA:114):
Auriculoosteodysplasia

Associated phenotypes (HPO):
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0009907
hpo_term: Attached earlobe
chpo_term: 附耳垂
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
Disease (ORPHA:113):
BDCS
Bazex-Dupré-Christol syndrome
Follicular atrophoderma and basal cell carcinomas

Associated phenotypes (HPO):
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0003777
hpo_term: Pili torti
chpo_term: 卷发
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0009886
hpo_term: Trichorrhexis nodosa
chpo_term: 结节性脆发症
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0200102
hpo_term: Sparse or absent eyelashes
chpo_term: 睫毛稀疏/无睫毛
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0100720
hpo_term: Hypoplasia of the ear cartilage
chpo_term: 耳软骨发育不全
id: HP:0100777
hpo_term: Exostoses
chpo_term: 外生骨疣
Disease (ORPHA:228169):
Autosomal dominant striatal neurodegeneration
ADSD

Associated phenotypes (HPO):
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:529799):
Acute bilirubin encephalopathy
ABE
Acute kernicterus

Associated phenotypes (HPO):
id: HP:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0006958
hpo_term: Abnormal auditory evoked potentials
chpo_term: 听觉诱发电位异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000502
hpo_term: Abnormal conjunctiva morphology
chpo_term: 结膜形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001343
hpo_term: Kernicterus
chpo_term: 核黄疸
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012696
hpo_term: Abnormal thalamic MRI signal intensity
chpo_term: 丘脑核磁共振信号强度异常
id: HP:0032106
hpo_term: Conjunctival icterus
chpo_term: 结膜黄疸
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0003228
hpo_term: Hypernatremia
chpo_term: 高钠血症
id: HP:0025331
hpo_term: Upgaze palsy
chpo_term: 向上凝视麻痹
id: HP:0040187
hpo_term: Neonatal sepsis
chpo_term: 新生儿败血症
Disease (ORPHA:108):
Babesiosis

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001864
hpo_term: Clinodactyly of the 5th toe
chpo_term: 第五趾屈曲畸形
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100724
hpo_term: Hypercoagulability
chpo_term: 高凝状态
id: HP:0100776
hpo_term: Recurrent pharyngitis
chpo_term: 复发性咽炎
Disease (ORPHA:90000):
Erythema elevatum diutinum

Associated phenotypes (HPO):
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0200029
hpo_term: Vasculitis in the skin
chpo_term: 皮肤血管炎
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
Disease (ORPHA:105):
Urethral atresia
Atresia of urethra

Associated phenotypes (HPO):
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000021
hpo_term: Megacystis
chpo_term: 巨膀胱症
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004321
hpo_term: Bladder fistula
chpo_term: 膀胱瘘管
id: HP:0010479
hpo_term: Patent urachus
chpo_term: 脐尿管未闭
id: HP:0010955
hpo_term: Dilatation of the bladder
chpo_term: 膀胱扩张
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0010444
hpo_term: Pulmonary insufficiency
chpo_term: 肺动脉瓣关闭不全
Disease (ORPHA:104):
Leber hereditary optic neuropathy
Leber optic atrophy
LHON

Associated phenotypes (HPO):
id: HP:0007924
hpo_term: Slow decrease in visual acuity
chpo_term: 视力缓慢下降
id: HP:0200125
hpo_term: Mitochondrial respiratory chain defects
chpo_term: 线粒体呼吸链缺陷
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000576
hpo_term: Centrocecal scotoma
chpo_term: 中央盲点
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0007763
hpo_term: Retinal telangiectasia
chpo_term: 视网膜毛细血管扩张
id: HP:0012841
hpo_term: Retinal vascular tortuosity
chpo_term: 视网膜血管迂曲
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0004309
hpo_term: Ventricular preexcitation
chpo_term: 心室预激
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0020120
hpo_term: Retinal nerve fiber edema
chpo_term: 视网膜神经纤维水肿
id: HP:0032036
hpo_term: Reduced contrast sensitivity
chpo_term: 对比敏感度降低
Disease (ORPHA:107):
Melnick-Fraser syndrome
Branchiootorenal spectrum disorder
BOR syndrome
Branchiootorenal syndrome

Associated phenotypes (HPO):
id: HP:0000359
hpo_term: Abnormality of the inner ear
chpo_term: 内耳异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000370
hpo_term: Abnormality of the middle ear
chpo_term: 中耳异常
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000394
hpo_term: Lop ear
chpo_term: 垂耳
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0004452
hpo_term: Abnormality of the middle ear ossicles
chpo_term: 中耳听小骨异常
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0008586
hpo_term: Hypoplasia of the cochlea
chpo_term: 耳蜗发育不全
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0009794
hpo_term: Branchial anomaly
chpo_term: 鳃裂异常
id: HP:0009796
hpo_term: Branchial cyst
chpo_term: 鳃裂囊肿
id: HP:0011387
hpo_term: Enlarged vestibular aqueduct
chpo_term: 前庭导水管扩大
id: HP:0011388
hpo_term: Enlarged cochlear aqueduct
chpo_term: 耳蜗导水管扩大
id: HP:0011395
hpo_term: Aplasia/Hypoplasia of the cochlea
chpo_term: 耳蜗发育缺陷/不全
id: HP:0100272
hpo_term: Branchial sinus
chpo_term: 鳃窦
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0007925
hpo_term: Lacrimal duct aplasia
chpo_term: 泪管发育缺陷
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009798
hpo_term: Euthyroid goiter
chpo_term: 甲状腺功能正常的甲状腺肿
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0011481
hpo_term: Abnormal lacrimal duct morphology
chpo_term: 泪道形态异常
id: HP:0040106
hpo_term: Morphological abnormality of the lateral semicircular canal
chpo_term: 外骨半规管形态异常
id: HP:0100274
hpo_term: Gustatory lacrimation
chpo_term: 味觉流泪
id: HP:0100581
hpo_term: Dilatation of renal calices
chpo_term: 肾盏扩张
Disease (ORPHA:90002):
UCTD
Undifferentiated connective tissue syndrome

Associated phenotypes (HPO):
id: HP:0020151
hpo_term: Anti-dsDNA antibody positivity
chpo_term: 抗双链DNA 抗体阳性
id: HP:0034076
hpo_term: Anti-ribosome Po antibody positivity
chpo_term: 抗核糖体PO蛋白抗体阳性
id: HP:0034093
hpo_term: Anti-Ro52/TRIM21 antibody positivity
chpo_term: 抗Ro52/TRIM21抗体阳性
Disease (ORPHA:90003):
Inflammatory pseudotumor of the liver

Associated phenotypes (HPO):
id: HP:0002896
hpo_term: Neoplasm of the liver
chpo_term: 肝脏肿瘤
id: HP:0031140
hpo_term: Abnormal liver sonography
chpo_term: 肝脏超声异常
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001080
hpo_term: Biliary tract abnormality
chpo_term: 胆道异常
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
id: HP:0410369
hpo_term: Increased hepatitis B virus antibody level
chpo_term: 乙肝病毒抗体水平升高
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
Disease (ORPHA:101):
DRPLA
Naito-Oyanagi disease
Dentatorubral pallidoluysian atrophy
Dentatorubropallidoluysian atrophy

Associated phenotypes (HPO):
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
id: HP:0001152
hpo_term: Saccadic smooth pursuit
chpo_term: 扫视平滑追视
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0010867
hpo_term: Dyssynergia
chpo_term: 协同失调
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0012048
hpo_term: Oromandibular dystonia
chpo_term: 口下颌肌张力障碍