TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:363429):
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000571
hpo_term: Hypometric saccades
chpo_term: 扫视不到位
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
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:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007221
hpo_term: Progressive truncal ataxia
chpo_term: 进行性躯干共济失调
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0100275
hpo_term: Diffuse cerebellar atrophy
chpo_term: 弥漫性小脑萎缩
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006951
hpo_term: Retrocerebellar cyst
chpo_term: Retrocerebellar囊肿
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
Disease (ORPHA:251912):
Pineocytoma

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002131
hpo_term: Episodic ataxia
chpo_term: 发作性共济失调
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0030531
hpo_term: Altitudinal visual field defect
chpo_term: 垂直视野缺损
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
Disease (ORPHA:2302):
Asbestosis
Asbestos intoxication

Associated phenotypes (HPO):
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002207
hpo_term: Diffuse reticular or finely nodular infiltrations
chpo_term: 弥漫性网状或细结节状浸润
id: HP:0002792
hpo_term: Reduced vital capacity
chpo_term: 肺活量减少
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0030874
hpo_term: Oxygen desaturation on exertion
chpo_term: 用力时血氧饱和度下降
id: HP:0031246
hpo_term: Nonproductive cough
chpo_term: 干咳
id: HP:0031631
hpo_term: Subpleural honeycombing
chpo_term: 胸膜下蜂窝状结构
id: HP:0031944
hpo_term: Pleural thickening
chpo_term: 胸膜增厚
id: HP:0031998
hpo_term: Late inspiratory crackles
chpo_term: 吸气末啰音
id: HP:0032341
hpo_term: Reduced forced vital capacity
chpo_term: 用力肺活量降低
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001648
hpo_term: Cor pulmonale
chpo_term: 肺源性心脏病
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0030849
hpo_term: Hepatojugular reflux
chpo_term: 肝颈静脉反流
id: HP:0030879
hpo_term: Interlobular septal thickening
chpo_term: 小叶间隔增厚
id: HP:0031352
hpo_term: Chest tightness
chpo_term: 胸闷
id: HP:0032016
hpo_term: Abnormal sputum
chpo_term: 痰液异常
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001685
hpo_term: Myocardial fibrosis
chpo_term: 心肌纤维化
id: HP:0030078
hpo_term: Lung adenocarcinoma
chpo_term: 肺腺癌
id: HP:0100001
hpo_term: Malignant mesothelioma
chpo_term: 恶性间皮瘤
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
Disease (ORPHA:2301):
Congenital short bowel syndrome

Associated phenotypes (HPO):
id: HP:0005245
hpo_term: Intestinal hypoplasia
chpo_term: 肠道发育不良
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0100627
hpo_term: Displacement of the urethral meatus
chpo_term: 尿道外口异位
Disease (ORPHA:2300):
Isolated multiple intestinal atresia
Familial intestinal polyatresia syndrome
Multiple intestinal atresia

Associated phenotypes (HPO):
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0100867
hpo_term: Duodenal stenosis
chpo_term: 十二指肠狭窄
id: HP:0002589
hpo_term: Gastrointestinal atresia
chpo_term: 消化道闭锁
Disease (ORPHA:2309):
PC
Pachyonychia congenita

Associated phenotypes (HPO):
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0007446
hpo_term: Palmoplantar blistering
chpo_term: 掌跖起泡
id: HP:0008401
hpo_term: Onychogryposis of toenails
chpo_term: 趾甲弯曲
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
id: HP:0030268
hpo_term: Hyperplastic callus formation
chpo_term: 增生性愈伤组织形成
id: HP:0002745
hpo_term: Oral leukoplakia
chpo_term: 口腔白斑
id: HP:0007410
hpo_term: Palmoplantar hyperhidrosis
chpo_term: 掌跖多汗症
id: HP:0007490
hpo_term: Linear arrays of macular hyperkeratoses in flexural areas
chpo_term: 弯曲部位线状分布的角化过度斑
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0010765
hpo_term: Palmar hyperkeratosis
chpo_term: 掌部角化过度
id: HP:0012035
hpo_term: Steatocystoma multiplex
chpo_term: 多发性皮脂腺囊瘤
id: HP:0025245
hpo_term: Cutaneous cyst
chpo_term: 皮肤囊肿
id: HP:0040036
hpo_term: Onychogryposis of fingernail
chpo_term: 指甲弯曲
id: HP:0100798
hpo_term: Fingernail dysplasia
chpo_term: 指甲发育不良
id: HP:0200040
hpo_term: Epidermoid cyst
chpo_term: 表皮样囊肿
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001818
hpo_term: Paronychia
chpo_term: 甲沟炎
id: HP:0006288
hpo_term: Advanced eruption of teeth
chpo_term: 牙齿过早萌出
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0025248
hpo_term: Eruptive vellus hair cyst
chpo_term: 发疹性毛发囊肿
id: HP:0030766
hpo_term: Ear pain
chpo_term: 耳痛
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0030318
hpo_term: Angular cheilitis
chpo_term: 口角炎
Disease (ORPHA:2307):
IVIC syndrome
Oculo-oto-radial syndrome
Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000143
hpo_term: Rectovaginal fistula
chpo_term: 直肠阴道瘘
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0006660
hpo_term: Aplastic clavicle
chpo_term: 锁骨发育不全
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
Disease (ORPHA:2306):
Microtia-aortic arch syndrome
Kawashima syndrome
Isotretinoin-like syndrome

Associated phenotypes (HPO):
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000932
hpo_term: Abnormal posterior cranial fossa morphology
chpo_term: 后颅窝形态异常
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001710
hpo_term: Conotruncal defect
chpo_term: 圆锥动脉干缺损
id: HP:0001713
hpo_term: Abnormal cardiac ventricle morphology
chpo_term: 心室形态异常
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0005120
hpo_term: Abnormal cardiac atrium morphology
chpo_term: 心房形态异常
id: HP:0005301
hpo_term: Persistent left superior vena cava
chpo_term: 左侧上腔静脉永存
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0008774
hpo_term: Aplasia/Hypoplasia of the inner ear
chpo_term: 内耳发育缺陷/不全
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0011718
hpo_term: Abnormality of the pulmonary veins
chpo_term: 肺静脉异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012303
hpo_term: Abnormal aortic arch morphology
chpo_term: 主动脉弓形态异常
id: HP:0009892
hpo_term: Anotia
chpo_term: 无耳畸形
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
Disease (ORPHA:2305):
Retinoids embryopathy
Retinoic acid embryopathy
Isotretinoin syndrome
Isotretinoin embryopathy

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:293939):
Distal Xq28 microduplication syndrome
Distal dup(X)q(28)
Int22h1/Int22h2 mediated-Xq28 microduplication syndrome
Distal trisomy Xq28

Associated phenotypes (HPO):
id: HP:0000200
hpo_term: Short lingual frenulum
chpo_term: 舌系带过短
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
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:0000739
hpo_term: Anxiety
chpo_term: 焦虑
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:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003550
hpo_term: Predominantly lower limb lymphedema
chpo_term: 主要累及下肢的淋巴水肿
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0011234
hpo_term: Absent antihelix
chpo_term: 对耳轮缺失
id: HP:0011730
hpo_term: Abnormal central sensory function
chpo_term: 中枢感觉功能异常
id: HP:0012169
hpo_term: Self-biting
chpo_term: 自咬
id: HP:0012172
hpo_term: Stereotypical body rocking
chpo_term: 刻板性身体摇摆
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0012724
hpo_term: Upper eyelid edema
chpo_term: 上眼睑水肿
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
Disease (ORPHA:70592):
Transient predisposition to invasive pyogenic bacterial infection

Associated phenotypes (HPO):
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0005366
hpo_term: Recurrent streptococcus pneumoniae infections
chpo_term: 复发性链球菌感染肺炎
id: HP:0007499
hpo_term: Recurrent staphylococcal infections
chpo_term: 反复葡萄球菌感染
id: HP:0005406
hpo_term: Recurrent bacterial skin infections
chpo_term: 复发性细菌性皮肤感染
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
Disease (ORPHA:70593):
Specific polysaccharide antibody deficiency
Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Specific anti-polysaccharide antibody deficiency
SPAD
Selective anti-polysaccharide antibody deficiency

Associated phenotypes (HPO):
id: HP:0002848
hpo_term: Decreased specific anti-polysaccharide antibody level
chpo_term: 特异性抗多糖抗体水平降低
id: HP:0410299
hpo_term: Decreased specific antibody response to polysaccharide vaccine
chpo_term: 对多糖疫苗特异性抗体应答降低
id: HP:0410300
hpo_term: Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine
chpo_term: 对肺炎球菌疫苗完全或几乎全无特异性抗体应答
id: HP:0410302
hpo_term: Decreased specific antibody response to protein-conjugated polysaccharide vaccine
chpo_term: 对多糖-蛋白结合疫苗特异性抗体应答降低
id: HP:0410303
hpo_term: Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
chpo_term: 对B型流感嗜血杆菌（Hib）疫苗完全或几乎全无特异性抗体应答
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0030374
hpo_term: Decreased proportion of memory B cells
chpo_term: 记忆性B细胞比例减低
id: HP:0031949
hpo_term: Recurrent bacterial upper respiratory tract infections
chpo_term: 复发性上呼吸道细菌感染
id: HP:0200117
hpo_term: Recurrent upper and lower respiratory tract infections
chpo_term: 上下呼吸道反复感染
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0007274
hpo_term: Recurrent bacterial meningitis
chpo_term: 复发性细菌性脑膜炎
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0410240
hpo_term: Abnormal circulating IgA level
chpo_term: 血液IgA异常
id: HP:0410242
hpo_term: Abnormal circulating IgG level
chpo_term: 血液IgG异常
id: HP:0410243
hpo_term: Abnormal circulating IgM level
chpo_term: 血液IgM异常
id: HP:0410295
hpo_term: Complete or near-complete absence of specific antibody response to tetanus vaccine
chpo_term: 对破伤风疫苗完全或几乎全无特异性抗体应答
Disease (ORPHA:352723):
Attenuated Chédiak-Higashi syndrome
Atypical Chédiak-Higashi syndrome

Associated phenotypes (HPO):
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:70594):
SPR deficiency
DRD due to SRD
Autosomal recessive sepiapterin reductase-deficient DRD
Sepiapterin reductase deficiency
Dopa-responsive dystonia due to sepiapterin reductase deficiency

Associated phenotypes (HPO):
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0005968
hpo_term: Temperature instability
chpo_term: 体温不稳定
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010553
hpo_term: Oculogyric crisis
chpo_term: 动眼神经危象
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
Disease (ORPHA:70595):
SANDO
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

Associated phenotypes (HPO):
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
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: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:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0003434
hpo_term: Sensory ataxic neuropathy
chpo_term: 感觉性共济失调性神经病
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:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0006858
hpo_term: Impaired distal proprioception
chpo_term: 远端本体感觉障碍
id: HP:0007344
hpo_term: Atrophy/Degeneration involving the spinal cord
chpo_term: 脊髓萎缩/退化
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
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:0025331
hpo_term: Upgaze palsy
chpo_term: 向上凝视麻痹
id: HP:0031422
hpo_term: Abnormal cerebellar cortex morphology
chpo_term: 小脑皮质形态异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002578
hpo_term: Gastroparesis
chpo_term: 胃轻瘫
id: HP:0004389
hpo_term: Intestinal pseudo-obstruction
chpo_term: 假性肠梗阻
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:98919):
Fisher syndrome
Cranial variant of GBS
Miller Fisher syndrome
Cranial variant of Guillain-Barré syndrome

Associated phenotypes (HPO):
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0034122
hpo_term: Anti-GQ1b antibody positivity
chpo_term: 抗GQ1b抗体阳性
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0007942
hpo_term: Internal ophthalmoplegia
chpo_term: 眼内肌麻痹
id: HP:0010845
hpo_term: EEG with generalized slow activity
chpo_term: 脑电图，广泛性慢活动
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0009916
hpo_term: Anisocoria
chpo_term: 瞳孔不等
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0011347
hpo_term: Abnormality of ocular abduction
chpo_term: 眼球外展异常
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难