TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:169186):
Autosomal recessive centronuclear myopathy
AR-CNM

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003323
hpo_term: Progressive muscle weakness
chpo_term: 进行性肌无力
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001349
hpo_term: Facial diplegia
chpo_term: 双侧面瘫
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003403
hpo_term: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
chpo_term: EMG：复合肌肉动作电位对重复神经刺激的反应递减
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
Disease (ORPHA:2690):
Neutropenia-monocytopenia-hearing loss syndrome
Neutropenia-monocytopenia-deafness syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001874
hpo_term: Abnormality of neutrophils
chpo_term: 中性粒细胞异常
id: HP:0004311
hpo_term: Abnormal macrophage morphology
chpo_term: 巨噬细胞形态异常
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
Disease (ORPHA:90050):
Retinopathy of prematurity
Retrolental fibroplasia
ROP

Associated phenotypes (HPO):
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0008046
hpo_term: Abnormal retinal vascular morphology
chpo_term: 视网膜脉管形态异常
id: HP:0500049
hpo_term: Retinopathy of prematurity
chpo_term: 早产儿视网膜病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0001103
hpo_term: Abnormal macular morphology
chpo_term: 黄斑形态异常
id: HP:0001136
hpo_term: Retinal arteriolar tortuosity
chpo_term: 视网膜小动脉迂曲
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007902
hpo_term: Vitreous hemorrhage
chpo_term: 玻璃体出血
id: HP:0007917
hpo_term: Tractional retinal detachment
chpo_term: 牵拉性视网膜脱离
Disease (ORPHA:500095):
Thauvin-Robinet-Faivre syndrome
Tall stature-intellectual disability-renal anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
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:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0004712
hpo_term: Renal malrotation
chpo_term: 肾旋转不良
id: HP:0011407
hpo_term: Proportionate tall stature
chpo_term: 成比例高身材
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0030037
hpo_term: Bifid ureter
chpo_term: 分叉型输尿管
id: HP:0410252
hpo_term: Chronic neutropenia
chpo_term: 慢性中性粒细胞减少症
id: HP:0410255
hpo_term: Transient neutropenia
chpo_term: 一过性中性粒细胞减少
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001707
hpo_term: Abnormal right ventricle morphology
chpo_term: 右心室形态异常
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0001847
hpo_term: Long hallux
chpo_term: 长拇趾
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0031069
hpo_term: Abnormal femoral torsion
chpo_term: 股骨异常扭转
id: HP:0100694
hpo_term: Tibial torsion
chpo_term: 胫骨扭转
Disease (ORPHA:306741):
Hemidystonia-hemiatrophy syndrome
HD-HA syndrome

Associated phenotypes (HPO):
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0012751
hpo_term: Abnormal basal ganglia MRI signal intensity
chpo_term: 核磁共振基底节异常信
id: HP:0001787
hpo_term: Abnormal delivery
chpo_term: 分娩异常
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0100556
hpo_term: Hemiatrophy
chpo_term: 偏侧萎缩
id: HP:0000245
hpo_term: Abnormal paranasal sinus morphology
chpo_term: 副鼻窦形态异常
id: HP:0000250
hpo_term: Dense calvaria
chpo_term: 颅盖骨密度过高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0010540
hpo_term: Advanced pneumatization of cranial sinuses
chpo_term: 颅窦过度气化
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012106
hpo_term: Rhizomelic leg shortening
chpo_term: 肢根型腿缩短
Disease (ORPHA:50839):
Bartonellosis due to Bartonella henselae infection
Cat-scratch disease

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0033834
hpo_term: Malaise
chpo_term: 全身乏力不适
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012121
hpo_term: Panuveitis
chpo_term: 全葡萄膜炎
id: HP:0020161
hpo_term: Branch retinal artery occlusion
chpo_term: 视网膜动脉分支闭塞
id: HP:0020165
hpo_term: Branch retinal vein occlusion
chpo_term: 视网膜分支静脉阻塞
id: HP:0032118
hpo_term: Retinitis
chpo_term: 视网膜炎
id: HP:0100653
hpo_term: Optic neuritis
chpo_term: 视神经炎
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0033430
hpo_term: Non-infectious meningitis
chpo_term: 非感染性脑膜炎
id: HP:0100584
hpo_term: Endocarditis
chpo_term: 心内膜炎
Disease (ORPHA:1368):
Cataract-ataxia-hearing loss syndrome
Cataract-ataxia-deafness syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008615
hpo_term: Adult onset sensorineural hearing impairment
chpo_term: 成人感觉神经性听力障碍
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
Disease (ORPHA:137596):
Neurotrophic keratopathy
Neurotrophic keratitis

Associated phenotypes (HPO):
id: HP:0010824
hpo_term: Abnormal fifth cranial nerve morphology
chpo_term: 第V颅神经形态异常
id: HP:0012155
hpo_term: Decreased corneal sensation
chpo_term: 角膜感觉减退
id: HP:0007924
hpo_term: Slow decrease in visual acuity
chpo_term: 视力缓慢下降
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000632
hpo_term: Lacrimation abnormality
chpo_term: 泪液分泌异常
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
id: HP:0012122
hpo_term: Anterior uveitis
chpo_term: 前葡萄膜炎
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:0012533
hpo_term: Allodynia
chpo_term: 痛觉过敏
id: HP:0100583
hpo_term: Corneal perforation
chpo_term: 角膜穿孔
id: HP:0100963
hpo_term: Hyperesthesia
chpo_term: 感觉过敏
Disease (ORPHA:1366):
Palmoplantar keratoderma and congenital alopecia, Wallis type
PPK-CA, Wallis type
Cataract-alopecia-sclerodactyly syndrome
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
Autosomal recessive palmoplantar keratoderma and congenital alopecia

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0007418
hpo_term: Alopecia totalis
chpo_term: 全秃
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
Disease (ORPHA:137599):
Herpes simplex virus stromal keratitis

Associated phenotypes (HPO):
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007765
hpo_term: Deep anterior chamber
chpo_term: 深前房
id: HP:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
id: HP:0012108
hpo_term: Open angle glaucoma
chpo_term: 开角型青光眼
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0007812
hpo_term: Herpetiform corneal ulceration
chpo_term: 泡疹角膜溃疡
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0012039
hpo_term: Descemet Membrane Folds
chpo_term: 后弹力膜皱襞
id: HP:0012155
hpo_term: Decreased corneal sensation
chpo_term: 角膜感觉减退
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0031448
hpo_term: Herpetiform vesicles
chpo_term: 疱疹样水泡
id: HP:0100583
hpo_term: Corneal perforation
chpo_term: 角膜穿孔
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0011134
hpo_term: Low-grade fever
chpo_term: 低热
id: HP:0033834
hpo_term: Malaise
chpo_term: 全身乏力不适
Disease (ORPHA:352641):
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebellar ataxia due to GBA2 deficiency

Associated phenotypes (HPO):
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0000570
hpo_term: Abnormal saccadic eye movements
chpo_term: 眼球扫视运动异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0004905
hpo_term: Low levels of vitamin A
chpo_term: 维生素A缺乏症
id: HP:0100513
hpo_term: Low levels of vitamin E
chpo_term: 维生素E缺乏症
Disease (ORPHA:697160):
Infantile epileptic spasms syndrome

Associated phenotypes (HPO):
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:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
Disease (ORPHA:1361):
Carnosinase deficiency

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003167
hpo_term: Carnosinuria
chpo_term: 肌肽尿
Disease (ORPHA:90041):
Gaisböck syndrome
Stress erythrocytosis
Stress polycythemia

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001050
hpo_term: Plethora
chpo_term: 多血症（红细胞增多症）
id: HP:0001899
hpo_term: Increased hematocrit
chpo_term: 红细胞压积增高
id: HP:0011106
hpo_term: Hypovolemia
chpo_term: 血容量不足
id: HP:0020059
hpo_term: Increased red blood cell count
chpo_term: 红细胞计数增高
id: HP:0025548
hpo_term: Increased mean corpuscular hemoglobin concentration
chpo_term: 红细胞平均血红蛋白量增多
id: HP:0025619
hpo_term: Elevated plasma cell count
chpo_term: 浆细胞计数升高
id: HP:0100724
hpo_term: Hypercoagulability
chpo_term: 高凝状态
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000848
hpo_term: Increased circulating renin level
chpo_term: 血肾素水平升高
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002152
hpo_term: Hyperproteinemia
chpo_term: 高蛋白血症
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0004950
hpo_term: Peripheral arterial stenosis
chpo_term: 外周动脉狭窄
id: HP:0005117
hpo_term: Elevated diastolic blood pressure
chpo_term: 舒张压升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012605
hpo_term: Hypernatriuria
chpo_term: 高钠尿症
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0001082
hpo_term: Cholecystitis
chpo_term: 胆囊炎
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0004398
hpo_term: Peptic ulcer
chpo_term: 消化性溃疡
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0410019
hpo_term: Epigastric pain
chpo_term: 上腹部疼痛
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (ORPHA:90042):
Congenital erythrocytosis due to erythropoietin receptor mutation
Primary congenital erythrocytosis
Congenital polycythemia due to erythropoietin receptor mutation
Primary familial and congenital polycythemia
PFCP
Familial erythrocytosis
Primary familial polycythemia

Associated phenotypes (HPO):
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0011902
hpo_term: Abnormal hemoglobin
chpo_term: 血红蛋白异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
Disease (ORPHA:2695):
Bifid nose

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0011803
hpo_term: Bifid nose
chpo_term: 鼻裂
Disease (ORPHA:352649):
Brain dopamine-serotonin vesicular transport disease

Associated phenotypes (HPO):
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
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:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
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:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0002597
hpo_term: Abnormality of the vasculature
chpo_term: 脉管系统异常
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0010553
hpo_term: Oculogyric crisis
chpo_term: 动眼神经危象
id: HP:0011443
hpo_term: Abnormality of coordination
chpo_term: 协调异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030215
hpo_term: Inappropriate crying
chpo_term: 不合时宜的哭泣
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:90044):
Familial pseudohyperkalemia

Associated phenotypes (HPO):
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0004446
hpo_term: Stomatocytosis
chpo_term: 口形红细胞增多症
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0004802
hpo_term: Episodic hemolytic anemia
chpo_term: 阵发性溶血性贫血
Disease (ORPHA:90045):
Congenital folate malabsorption
Hereditary folate malabsorption

Associated phenotypes (HPO):
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000206
hpo_term: Glossitis
chpo_term: 舌炎
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001889
hpo_term: Megaloblastic anemia
chpo_term: 巨幼细胞性贫血
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
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:0100825
hpo_term: Cheilitis
chpo_term: 唇炎