TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:1899):
Ehlers-Danlos syndrome, arthrochalasia type
Arthrochalasia EDS
Ehlers-Danlos syndrome type 7
aEDS
Arthrochalasis multiplex congenita
EDS VII
Arthrochalasia Ehlers-Danlos syndrome

Associated phenotypes (HPO):
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001001
hpo_term: Abnormality of subcutaneous fat tissue
chpo_term: 皮下脂肪组织异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0010547
hpo_term: Muscle flaccidity
chpo_term: 肌无力
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0100541
hpo_term: Femoral hernia
chpo_term: 股疝
Disease (ORPHA:352731):
OCA1
Oculocutaneous albinism type 1

Associated phenotypes (HPO):
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007680
hpo_term: Depigmented fundus
chpo_term: 眼底脱色素
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0011358
hpo_term: Generalized hypopigmentation of hair
chpo_term: 泛发性毛发色素减退
id: HP:0012805
hpo_term: Iris transillumination defect
chpo_term: 虹膜透光缺陷
id: HP:0025551
hpo_term: Optic nerve misrouting
chpo_term: 视神经错路
id: HP:0025568
hpo_term: Abnormal morphology of the choroidal vasculature
chpo_term: 脉络膜血管形态异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0002226
hpo_term: White eyebrow
chpo_term: 白眉
id: HP:0002227
hpo_term: White eyelashes
chpo_term: 白睫
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0025127
hpo_term: Actinic keratosis
chpo_term: 光化性角化病
Disease (ORPHA:1897):
EEM syndrome
Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0001592
hpo_term: Selective tooth agenesis
chpo_term: 选择性牙齿发育不全
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0007754
hpo_term: Macular dystrophy
chpo_term: 黄斑营养不良
id: HP:0100257
hpo_term: Ectrodactyly
chpo_term: 缺趾/指畸形
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
Disease (ORPHA:506353):
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Autosomal recessive complex SPG due to Kennedy pathway dysfunction
Autosomal recessive spastic paraplegia type 81

Associated phenotypes (HPO):
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0008848
hpo_term: Moderately short stature
chpo_term: 中度身材矮小
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0008376
hpo_term: Nasal, dysarthic speech
chpo_term: 鼻，构音障碍
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0030625
hpo_term: Hyporeflective spaces on macular OCT
chpo_term: OCT 测量法黄斑区低反射性间隙
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0007199
hpo_term: Progressive spastic paraparesis
chpo_term: 进行性痉挛性轻瘫
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0030182
hpo_term: Tetraplegia/tetraparesis
chpo_term: 四肢瘫痪/四肢轻瘫
id: HP:0007220
hpo_term: Demyelinating motor neuropathy
chpo_term: 脱髓鞘性运动神经病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0007768
hpo_term: Central retinal vessel vascular tortuosity
chpo_term: 视网膜中央血管迂曲
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
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
Disease (ORPHA:293978):
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
DAVID syndrome

Associated phenotypes (HPO):
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0001325
hpo_term: Hypoglycemic coma
chpo_term: 低血糖昏迷
id: HP:0001988
hpo_term: Recurrent hypoglycemia
chpo_term: 反复发作性低血糖
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0002920
hpo_term: Decreased circulating ACTH level
chpo_term: 血促肾上腺皮质激素水平降低
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0005365
hpo_term: Severe B lymphocytopenia
chpo_term: 重型B淋巴细胞减少症
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0011735
hpo_term: Adrenocorticotropin deficient adrenal insufficiency
chpo_term: 促肾上腺皮质激素缺陷性肾上腺功能不全
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100776
hpo_term: Recurrent pharyngitis
chpo_term: 复发性咽炎
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0004332
hpo_term: Abnormal lymphocyte morphology
chpo_term: 淋巴细胞形态异常
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0012504
hpo_term: Abnormal size of pituitary gland
chpo_term: 脑垂体大小异常
id: HP:0100803
hpo_term: Abnormality of the periungual region
chpo_term: 甲周异常
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0007418
hpo_term: Alopecia totalis
chpo_term: 全秃
id: HP:0030349
hpo_term: Decreased circulating androgen concentration
chpo_term: 循环雄激素浓度降低
id: HP:0030353
hpo_term: Decreased serum insulin-like growth factor 1
chpo_term: 血清胰岛素样生长因子-1（IGF1）水平降低
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
Disease (ORPHA:436159):
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
ALPS due to CTLA4 haploinsuffiency
CTLA-4 haploinsufficiency with autoimmune infiltration disease
CHAI

Associated phenotypes (HPO):
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
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:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001904
hpo_term: Neutropenia in presence of anti-neutropil antibodies
chpo_term: 抗中性粒细胞抗体阳性的中性粒细胞减少症
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002582
hpo_term: Atrophic gastritis
chpo_term: 萎缩性胃炎
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0005401
hpo_term: Recurrent candida infections
chpo_term: 反复念珠菌感染
id: HP:0032216
hpo_term: Lymphocytic infiltration of the colorectal mucosa
chpo_term: 结直肠粘膜淋巴细胞浸润
id: HP:0100280
hpo_term: Crohn's disease
chpo_term: 克罗恩氏病
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0012410
hpo_term: Pure red cell aplasia
chpo_term: 纯红细胞再生障碍性贫血
id: HP:0100653
hpo_term: Optic neuritis
chpo_term: 视神经炎
Disease (ORPHA:90322):
Cockayne syndrome type 2
Cockayne syndrome type II

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002545
hpo_term: Patchy demyelination of subcortical white matter
chpo_term: 皮层下白质片状脱髓鞘
id: HP:0007346
hpo_term: Subcortical white matter calcifications
chpo_term: 皮质下白质钙化
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000674
hpo_term: Anodontia
chpo_term: 无牙畸形
id: HP:0000680
hpo_term: Delayed eruption of primary teeth
chpo_term: 乳牙萌出延迟
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0006313
hpo_term: Widely spaced primary teeth
chpo_term: 乳牙间隙增宽
id: HP:0006334
hpo_term: Hypoplasia of the primary teeth
chpo_term: 乳牙发育不全
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0000026
hpo_term: Male hypogonadism
chpo_term: 男性性腺功能减退症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (ORPHA:454836):
Avian influenza

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
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:0031246
hpo_term: Nonproductive cough
chpo_term: 干咳
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0031245
hpo_term: Productive cough
chpo_term: 痰咳
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012486
hpo_term: Myelitis
chpo_term: 脊髓炎
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
Disease (ORPHA:56425):
CAD
Cold agglutinin disease
CAS
Chronic cold agglutinin disease
Cold agglutinin syndrome

Associated phenotypes (HPO):
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0012086
hpo_term: Abnormal urinary color
chpo_term: 尿液颜色异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:309162):
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form
GM2 gangliosidosis, Sandhoff variant, juvenile form
Sandhoff disease, juvenile form
Beta-hexosaminidase subunit beta deficiency, juvenile form

Associated phenotypes (HPO):
id: HP:0033978
hpo_term: Reduced beta-hexosaminidase activity
chpo_term: β-己糖苷酶活性降低
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:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003121
hpo_term: Limb joint contracture
chpo_term: 肢体关节挛缩
id: HP:0031006
hpo_term: Acroparesthesia
chpo_term: 肢端感觉障碍
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
Disease (ORPHA:309169):
Beta-hexosaminidase subunit beta deficiency, adult form
GM2 gangliosidosis, Sandhoff variant, adult form
Sandhoff disease, adult form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form

Associated phenotypes (HPO):
id: HP:0033978
hpo_term: Reduced beta-hexosaminidase activity
chpo_term: β-己糖苷酶活性降低
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
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:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0004373
hpo_term: Focal dystonia
chpo_term: 局限性肌张力障碍
id: HP:0025268
hpo_term: Stuttering
chpo_term: 口吃
id: HP:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
Disease (ORPHA:210548):
Macrocephaly-intellectual disability-autism syndrome

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0001054
hpo_term: Numerous nevi
chpo_term: 多发性色素痣
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0031447
hpo_term: Penile freckling
chpo_term: 阴茎斑点
id: HP:0200008
hpo_term: Intestinal polyposis
chpo_term: 肠息肉病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002890
hpo_term: Thyroid carcinoma
chpo_term: 甲状腺癌
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0006781
hpo_term: Hurthle cell thyroid adenoma
chpo_term: 嗜酸细胞甲状腺腺瘤
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0032203
hpo_term: Lymphoid nodular hyperplasia
chpo_term: 淋巴结节增生
Disease (ORPHA:69744):
Circumscribed palmoplantar hypokeratosis
Circumscribed acral hypokeratosis

Associated phenotypes (HPO):
id: HP:0001227
hpo_term: Abnormality of the thenar eminence
chpo_term: 大鱼际异常
id: HP:0010486
hpo_term: Abnormality of the hypothenar eminence
chpo_term: 小鱼际隆起异常
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
id: HP:0100872
hpo_term: Abnormality of the plantar skin of foot
chpo_term: 跖部皮肤异常
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
Disease (ORPHA:454831):
Acute radiation sickness
Acute radiation syndrome

Associated phenotypes (HPO):
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001913
hpo_term: Granulocytopenia
chpo_term: 粒细胞减少症
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0006515
hpo_term: Interstitial pneumonitis
chpo_term: 间质性肺炎
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:1995):
Ausems-Wittebol Post-Hennekam syndrome
Cleft lip-cone rod dystrophy syndrome
Cleft lip-retinopathy syndrome
Cleft lip-progressive retinopathy syndrome

Associated phenotypes (HPO):
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂