TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:71505):
CAR syndrome
Paraneoplastic retinopathy
Cancer-associated retinopathy

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0006758
hpo_term: Malignant genitourinary tract tumor
chpo_term: 恶性泌尿生殖道肿瘤
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007830
hpo_term: Adult-onset night blindness
chpo_term: 成人发病夜盲症
id: HP:0007984
hpo_term: Electronegative electroretinogram
chpo_term: 视网膜电流图负波形
id: HP:0007987
hpo_term: Progressive visual field defects
chpo_term: 进行性视野缺失
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0030357
hpo_term: Small cell lung carcinoma
chpo_term: 小细胞肺癌
id: HP:0030786
hpo_term: Photopsia
chpo_term: 闪光感
id: HP:0033020
hpo_term: Female reproductive system neoplasm
chpo_term: 女性生殖系统肿瘤
id: HP:0100013
hpo_term: Neoplasm of the breast
chpo_term: 乳腺肿瘤
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0004377
hpo_term: Hematological neoplasm
chpo_term: 血液肿瘤
id: HP:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0007793
hpo_term: Granular macular appearance
chpo_term: 斑点状黄斑色素异常
id: HP:0010784
hpo_term: Uterine neoplasm
chpo_term: 子宫肿瘤
id: HP:0010788
hpo_term: Testicular neoplasm
chpo_term: 睾丸肿瘤
id: HP:0012189
hpo_term: Hodgkin lymphoma
chpo_term: 霍奇金淋巴瘤
id: HP:0030528
hpo_term: Paracentral scotoma
chpo_term: 旁中央暗点
id: HP:0030627
hpo_term: Foveal hyporeflective spaces on macular OCT
chpo_term: OCT 测量法黄斑区中心凹 低反射性间隙
id: HP:0100275
hpo_term: Diffuse cerebellar atrophy
chpo_term: 弥漫性小脑萎缩
id: HP:0100522
hpo_term: Thymoma
chpo_term: 胸腺瘤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0002894
hpo_term: Neoplasm of the pancreas
chpo_term: 胰腺肿瘤
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0006725
hpo_term: Pancreatic adenocarcinoma
chpo_term: 胰腺腺癌
id: HP:0011531
hpo_term: Vitritis
chpo_term: 玻璃体炎
id: HP:0012056
hpo_term: Cutaneous melanoma
chpo_term: 皮肤黑色素瘤
id: HP:0012125
hpo_term: Prostate cancer
chpo_term: 前列腺癌
Disease (ORPHA:401800):
Autosomal recessive spastic paraplegia type 60
SPG60

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
Disease (ORPHA:488594):
SPG76
Autosomal recessive spastic paraplegia type 76

Associated phenotypes (HPO):
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0007350
hpo_term: Hyperreflexia in upper limbs
chpo_term: 上肢反射亢进
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000009
hpo_term: Functional abnormality of the bladder
chpo_term: 膀胱功能异常
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
Disease (ORPHA:401805):
SPG63
Autosomal recessive spastic paraplegia type 63

Associated phenotypes (HPO):
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0012407
hpo_term: Scissor gait
chpo_term: 剪刀步态
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
Disease (ORPHA:71517):
DYT12
Dystonia 12
Rapid-onset dystonia-parkinsonism

Associated phenotypes (HPO):
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0012179
hpo_term: Craniofacial dystonia
chpo_term: 头面部肌张力障碍
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
Disease (ORPHA:71518):
Benign paroxysmal torticollis of infancy

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0002457
hpo_term: Abnormal head movements
chpo_term: 头部运动异常
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
Disease (ORPHA:71519):
Psychogenic dystonia
Psychogenic movement disorders

Associated phenotypes (HPO):
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:1574):
Mackay-Shek-Carr syndrome
Retinal degeneration-nanophthalmos-glaucoma syndrome

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
Disease (ORPHA:1573):
Hypotrichosis with juvenile macular dystrophy
HJMD
Hypotrichosis with juvenile macular degeneration

Associated phenotypes (HPO):
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002813
hpo_term: Abnormality of limb bone morphology
chpo_term: 四肢骨骼形态异常
id: HP:0003777
hpo_term: Pili torti
chpo_term: 卷发
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008002
hpo_term: Abnormality of macular pigmentation
chpo_term: 黄斑色素沉着异常
id: HP:0100326
hpo_term: Immunologic hypersensitivity
chpo_term: 免疫过敏
Disease (ORPHA:1571):
Knobloch syndrome
Knobloch-Layer syndrome
Retinal detachment-occipital encephalocele syndrome

Associated phenotypes (HPO):
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0004327
hpo_term: Abnormal vitreous humor morphology
chpo_term: 玻璃体异常
id: HP:0007773
hpo_term: Vitreoretinopathy
chpo_term: 玻璃体视网膜病
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0030037
hpo_term: Bifid ureter
chpo_term: 分叉型输尿管
id: HP:0100764
hpo_term: Lymphangioma
chpo_term: 淋巴管瘤
Disease (ORPHA:1570):
Symbrachydactyly of hands and feet
De Smet-Fabry-Fryns syndrome

Associated phenotypes (HPO):
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0100745
hpo_term: Abnormality of the humeroulnar joint
chpo_term: 肱尺关节异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0031095
hpo_term: Abnormal humerus morphology
chpo_term: 肱骨形态异常
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
Disease (ORPHA:276238):
SCA3, Joseph type
Spinocerebellar ataxia type 3, Joseph type
Machado-Joseph disease type 1

Associated phenotypes (HPO):
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000623
hpo_term: Supranuclear ophthalmoplegia
chpo_term: 核上性眼肌麻痹
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002503
hpo_term: Spinocerebellar tract degeneration
chpo_term: 脊髓小脑束变性
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007089
hpo_term: Facial-lingual fasciculations
chpo_term: 面-舌肌束颤
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0011960
hpo_term: Substantia nigra gliosis
chpo_term: 黑质神经胶质增生
id: HP:0040140
hpo_term: Degeneration of the striatum
chpo_term: 纹状体退行性变
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0004370
hpo_term: Abnormality of temperature regulation
chpo_term: 体温调节异常
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
Disease (ORPHA:33276):
Kaposi sarcoma

Associated phenotypes (HPO):
id: HP:0005353
hpo_term: Recurrent herpes
chpo_term: 复发性疱疹
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0000479
hpo_term: Abnormal retinal morphology
chpo_term: 视网膜形态异常
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001743
hpo_term: Abnormality of the spleen
chpo_term: 脾脏异常
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0005523
hpo_term: Lymphoproliferative disorder
chpo_term: 淋巴增生性疾病
id: HP:0008940
hpo_term: Generalized lymphadenopathy
chpo_term: 全身性淋巴结肿大
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0005293
hpo_term: Venous insufficiency
chpo_term: 静脉功能不全
id: HP:0011793
hpo_term: Neoplasm by anatomical site
chpo_term: 据解剖部位的肿瘤分类
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
Disease (ORPHA:79473):
Variegate porphyria
Porphyria variegata
Protoporphyrinogen oxidase deficiency

Associated phenotypes (HPO):
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0010472
hpo_term: Abnormal circulating porphyrin concentration
chpo_term: 血红素生物合成途径异常
id: HP:0010473
hpo_term: Porphyrinuria
chpo_term: 卟啉尿症
id: HP:0012217
hpo_term: Increased urinary porphobilinogen
chpo_term: 尿液胆色素原增高
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0003163
hpo_term: Elevated urinary delta-aminolevulinic acid
chpo_term: 尿δ-氨基乙酰丙酸水平升高
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0007178
hpo_term: Motor polyneuropathy
chpo_term: 多发性运动神经病
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
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:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002203
hpo_term: Respiratory paralysis
chpo_term: 呼吸肌麻痹
id: HP:0002595
hpo_term: Ileus
chpo_term: 肠梗阻
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0031218
hpo_term: Inappropriate antidiuretic hormone secretion
chpo_term: 抗利尿激素分泌失衡
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011999
hpo_term: Paranoia
chpo_term: 偏执狂
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
Disease (ORPHA:79476):
Griscelli-Pruniéras syndrome type 1
Hypopigmentation-neurologic impairment syndrome
Griscelli syndrome type 1

Associated phenotypes (HPO):
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0007443
hpo_term: Partial albinism
chpo_term: 白点病；斑驳病；斑状白斑病；斑状白癜风；斑状白化病；
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:79477):
Griscelli-Pruniéras syndrome type 2
Griscelli syndrome type 2
Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
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:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
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:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007443
hpo_term: Partial albinism
chpo_term: 白点病；斑驳病；斑状白斑病；斑状白癜风；斑状白化病；
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
Disease (ORPHA:79478):
Griscelli-Pruniéras syndrome type 3
Griscelli syndrome type 3

Associated phenotypes (HPO):
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007443
hpo_term: Partial albinism
chpo_term: 白点病；斑驳病；斑状白斑病；斑状白癜风；斑状白化病；
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
Disease (ORPHA:1578):
Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia due to dehydratase deficiency
Pterin-4 alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency

Associated phenotypes (HPO):
id: HP:0004923
hpo_term: Hyperphenylalaninemia
chpo_term: 高苯丙氨酸血症
id: HP:0040210
hpo_term: Abnormal circulating biopterin concentration
chpo_term: 生物喋呤水平异常
id: HP:0010553
hpo_term: Oculogyric crisis
chpo_term: 动眼神经危象
id: HP:0040206
hpo_term: Abnormal circulating neopterin concentration
chpo_term: 新喋呤水平异常
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0004904
hpo_term: Maturity-onset diabetes of the young
chpo_term: 青少年发病的成人型糖尿病
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
Disease (ORPHA:209004):
Polyneuropathy associated with IgM monoclonal gammopathy
Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy

Associated phenotypes (HPO):
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0007133
hpo_term: Progressive peripheral neuropathy
chpo_term: 进行性周围神经病
id: HP:0011402
hpo_term: Demyelinating sensory neuropathy
chpo_term: 脱髓鞘性感觉神经病
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0005508
hpo_term: Monoclonal immunoglobulin M proteinemia
chpo_term: 单克隆IgM血症
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0007220
hpo_term: Demyelinating motor neuropathy
chpo_term: 脱髓鞘性运动神经病
id: HP:0007267
hpo_term: Chronic axonal neuropathy
chpo_term: 慢性轴索神经病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0100287
hpo_term: EMG: slow motor conduction
chpo_term: 肌电图:运动传导慢
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
id: HP:0031006
hpo_term: Acroparesthesia
chpo_term: 肢端感觉障碍
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0006775
hpo_term: Multiple myeloma
chpo_term: 多发性骨髓瘤
id: HP:0025346
hpo_term: Increased circulating beta-2-microglobulin level
chpo_term: 循环β2-微球蛋白水平增高
id: HP:0100778
hpo_term: Cryoglobulinemia
chpo_term: 冷球蛋白血症
Disease (ORPHA:401810):
Autosomal recessive spastic paraplegia type 64
SPG64

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常