TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:77261):
Chronic neuronopathic Gaucher disease
Gaucher disease type 3
Gaucher disease, subacute neuronopathic type
Cerebral juvenile and adult form of Gaucher disease

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
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:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
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:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004963
hpo_term: Calcification of the aorta
chpo_term: 主动脉钙化
id: HP:0007885
hpo_term: Slowed horizontal saccades
chpo_term: 水平扫视缓慢
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000674
hpo_term: Anodontia
chpo_term: 无牙畸形
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001637
hpo_term: Abnormal myocardium morphology
chpo_term: 心肌形态异常
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004380
hpo_term: Aortic valve calcification
chpo_term: 主动脉瓣钙化
id: HP:0004382
hpo_term: Mitral valve calcification
chpo_term: 二尖瓣钙化
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
Disease (ORPHA:77260):
Gaucher disease type 2
Infantile cerebral Gaucher disease
Acute neuronopathic Gaucher disease

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0003656
hpo_term: Decreased beta-glucocerebrosidase level
chpo_term: β-葡萄糖脑苷脂酶蛋白和活性降低
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0007272
hpo_term: Progressive psychomotor deterioration
chpo_term: 进行性精神运动恶化
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0025425
hpo_term: Laryngospasm
chpo_term: 喉痉挛
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0007479
hpo_term: Congenital nonbullous ichthyosiform erythroderma
chpo_term: 鱼鳞病样红皮病(大疱型)、大疱性鱼鳞病样角化过度症、显性遗传性先天性鱼鳞病、表皮松解性角化过度鱼鳞病
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
Disease (ORPHA:65282):
Keratoderma with woolly hair type II
Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
KWWH type II
Carvajal syndrome
Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Associated phenotypes (HPO):
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0002224
hpo_term: Woolly hair
chpo_term: 羊毛状发
id: HP:0005588
hpo_term: Patchy palmoplantar hyperkeratosis
chpo_term: 斑片状掌跖角化病
Disease (ORPHA:231568):
Generalized DDEB
Autosomal dominant generalized dystrophic epidermolysis bullosa

Associated phenotypes (HPO):
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0031045
hpo_term: Acral blistering
chpo_term: 肢端水泡
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0001817
hpo_term: Absent fingernail
chpo_term: 指甲缺损
id: HP:0008390
hpo_term: Recurrent loss of toenails and fingernails
chpo_term: 指（趾）甲反复脱落
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0031446
hpo_term: Erosion of oral mucosa
chpo_term: 口腔黏膜糜烂
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
Disease (ORPHA:65285):
Dysplastic gangliocytoma of the cerebellum
Lhermitte-Duclos disease
LDD

Associated phenotypes (HPO):
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
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:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0012081
hpo_term: Enlarged cerebellum
chpo_term: 小脑增大
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0010619
hpo_term: Fibroadenoma of the breast
chpo_term: 乳腺纤维腺瘤
id: HP:0012844
hpo_term: Trichilemmoma
chpo_term: 毛根鞘瘤
id: HP:0100031
hpo_term: Neoplasm of the thyroid gland
chpo_term: 甲状腺肿瘤
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0200016
hpo_term: Acrokeratosis
chpo_term: 肢端角化症
Disease (ORPHA:65286):
3qter deletion
Monosomy 3q29
3q29 microdeletion syndrome
Del(3)(q29)
Monosomy 3qter
3q subtelomere deletion syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
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:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
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: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:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001682
hpo_term: Subvalvular aortic stenosis
chpo_term: 主动脉瓣下狭窄
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0008416
hpo_term: Six lumbar vertebrae
chpo_term: 六块腰椎
Disease (ORPHA:65288):
Pancreatic and cerebellar agenesis
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Associated phenotypes (HPO):
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000857
hpo_term: Neonatal insulin-dependent diabetes mellitus
chpo_term: 新生儿胰岛素依赖性糖尿病
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0100800
hpo_term: Aplasia/Hypoplasia of the pancreas
chpo_term: 胰腺发育不良/发育不全
Disease (ORPHA:91547):
Relapsing fever

Associated phenotypes (HPO):
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0003573
hpo_term: Increased total bilirubin
chpo_term: 总胆红素增加
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0031179
hpo_term: Nuchal rigidity
chpo_term: 颈部僵硬
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0011899
hpo_term: Hyperfibrinogenemia
chpo_term: 高纤维蛋白原血症
Disease (ORPHA:91546):
Lyme disease
Lyme borreliosis

Associated phenotypes (HPO):
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
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:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100576
hpo_term: Amaurosis fugax
chpo_term: 一时性黑蒙
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
Disease (ORPHA:1816):
Berlin syndrome
Ectodermal dysplasia, Berlin type
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0009721
hpo_term: Shagreen patch
chpo_term: 鲨鱼皮样斑
Disease (ORPHA:1812):
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0010624
hpo_term: Aplastic/hypoplastic toenail
chpo_term: 趾甲发育缺陷/不全
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
Disease (ORPHA:1811):
Odontomicronychial dysplasia

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲
id: HP:0001816
hpo_term: Thin nail
chpo_term: 薄甲
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
id: HP:0006337
hpo_term: Premature eruption of permanent teeth
chpo_term: 恒牙过早萌出
id: HP:0008383
hpo_term: Slow-growing nails
chpo_term: 甲生长缓慢
Disease (ORPHA:77259):
Gaucher disease type 1
Non-cerebral juvenile Gaucher disease

Associated phenotypes (HPO):
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001971
hpo_term: Hypersplenism
chpo_term: 脾功能亢进
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0003656
hpo_term: Decreased beta-glucocerebrosidase level
chpo_term: β-葡萄糖脑苷脂酶蛋白和活性降低
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
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:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0031830
hpo_term: Pinguecula
chpo_term: 结膜黄斑
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002953
hpo_term: Vertebral compression fracture
chpo_term: 椎体压缩性骨折
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004975
hpo_term: Erlenmeyer flask deformity of the femurs
chpo_term: 股骨锥形瓶状变形
id: HP:0005230
hpo_term: Biliary tract obstruction
chpo_term: 胆道梗阻
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0006775
hpo_term: Multiple myeloma
chpo_term: 多发性骨髓瘤
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0032640
hpo_term: Elevated circulating CCL18 level
chpo_term: 血液趋化因子CCL18升高
id: HP:0034336
hpo_term: Splenic infarction
chpo_term: 脾梗死
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0012223
hpo_term: Splenic rupture
chpo_term: 脾破裂
Disease (ORPHA:1810):
AD-HED
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant anhidrotic ectodermal dysplasia

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘