TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:36238):
Staphylococcal necrotizing pneumonia

Associated phenotypes (HPO):
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0031246
hpo_term: Nonproductive cough
chpo_term: 干咳
id: HP:0031864
hpo_term: Bacteremia
chpo_term: 菌血症
id: HP:0032177
hpo_term: Parenchymal consolidation
chpo_term: 肺实变
id: HP:0032308
hpo_term: Increased circulating procalcitonin concentration
chpo_term: 血液降钙素原水平升高
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0025144
hpo_term: Shivering
chpo_term: 颤抖
id: HP:0025419
hpo_term: Pulmonary pneumatocele
chpo_term: 肺气肿
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0031273
hpo_term: Shock
chpo_term: 休克
id: HP:0032016
hpo_term: Abnormal sputum
chpo_term: 痰液异常
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0030955
hpo_term: Alcoholism
chpo_term: 酗酒
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
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:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0011919
hpo_term: Pleural empyema
chpo_term: 脓胸
id: HP:0011949
hpo_term: Acute infectious pneumonia
chpo_term: 急性感染性肺炎
Disease (ORPHA:1429):
Benign familial chorea
Benign hereditary chorea
BHC

Associated phenotypes (HPO):
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:1427):
OSMED
Autosomal recessive otospondylomegaepiphyseal dysplasia

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001367
hpo_term: Abnormal joint morphology
chpo_term: 关节形态异常
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0040163
hpo_term: Abnormal pelvis bone morphology
chpo_term: 盆骨形态异常
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0006375
hpo_term: Dumbbell-shaped femur
chpo_term: 哑铃状股骨
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0011314
hpo_term: Abnormal long bone morphology
chpo_term: 长骨形态异常
id: HP:0011867
hpo_term: Abnormal iliac wing morphology
chpo_term: 髂骨翼形态异常
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
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:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002834
hpo_term: Flared femoral metaphysis
chpo_term: 喇叭状股骨干骺端
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0003037
hpo_term: Enlarged joints
chpo_term: 关节膨大
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010502
hpo_term: Fibular bowing
chpo_term: 腓骨弯曲
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0025573
hpo_term: Mild myopia
chpo_term: 轻度近视
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0007964
hpo_term: Degenerative vitreoretinopathy
chpo_term: 退行性玻璃体视网膜病
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
Disease (ORPHA:1426):
HEM dysplasia
Greenberg dysplasia
Hydrops-ectopic calcification-motheaten syndrome
Skeletal dysplasia, Greenberg type

Associated phenotypes (HPO):
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0001881
hpo_term: Abnormal leukocyte morphology
chpo_term: 白细胞形态异常
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004331
hpo_term: Decreased skull ossification
chpo_term: 颅骨骨化减少
id: HP:0006619
hpo_term: Anterior rib punctate calcifications
chpo_term: 肋骨前端点状钙化
id: HP:0008890
hpo_term: Severe short-limb dwarfism
chpo_term: 严重的短肢侏儒症
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0009106
hpo_term: Abnormal pelvis bone ossification
chpo_term: 骨盆骨骨化异常
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化
id: HP:0100602
hpo_term: Preeclampsia
chpo_term: 先兆子痫
Disease (ORPHA:1425):
DBQD
Desbuquois dysplasia
Desbuquois syndrome

Associated phenotypes (HPO):
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0003366
hpo_term: Abnormal femoral neck/head morphology
chpo_term: 股骨颈/头形态异常
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0010318
hpo_term: Aplasia/Hypoplasia of the abdominal wall musculature
chpo_term: 腹壁肌群发育不良/发育不全
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
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:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:210122):
Congenital alveolar capillary dysplasia
Alveolar capillary dysplasia with misalignment of pulmonary vessels
Alveolar capillary dysplasia with misalignment of pulmonary veins
ACDMPV

Associated phenotypes (HPO):
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001734
hpo_term: Annular pancreas
chpo_term: 环状胰
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0010882
hpo_term: Pulmonary valve atresia
chpo_term: 肺动脉瓣闭锁
id: HP:0011467
hpo_term: Absent gallbladder
chpo_term: 胆囊缺失
id: HP:0100867
hpo_term: Duodenal stenosis
chpo_term: 十二指肠狭窄
Disease (ORPHA:69125):
Anonychia with flexural pigmentation

Associated phenotypes (HPO):
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0004404
hpo_term: Abnormal nipple morphology
chpo_term: 乳头形态异常
id: HP:0007471
hpo_term: Axillary and groin hyperpigmentation and hypopigmentation
chpo_term: 腋窝和腹股沟部位色素沉着和色素减退
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0030503
hpo_term: Macular telangiectasia
chpo_term: 黄斑毛细血管扩张
id: HP:0040211
hpo_term: Abnormal skin morphology of the palm
chpo_term: 手掌皮肤异常
id: HP:0100872
hpo_term: Abnormality of the plantar skin of foot
chpo_term: 跖部皮肤异常
Disease (ORPHA:210128):
Urocanic aciduria
Encephalopathy due to urocanase deficiency

Associated phenotypes (HPO):
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:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0007979
hpo_term: Gaze-evoked horizontal nystagmus
chpo_term: 凝视诱发水平眼震
id: HP:0010904
hpo_term: Abnormal circulating histidine concentration
chpo_term: 组氨酸族氨基酸代谢异常
id: HP:0012237
hpo_term: Urocanic aciduria
chpo_term: 尿刊酸尿症
Disease (ORPHA:69126):
FRA
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Familial recurrent arthritis
PAPA syndrome

Associated phenotypes (HPO):
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
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:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012649
hpo_term: Increased inflammatory response
chpo_term: 炎症反应增强
id: HP:0100280
hpo_term: Crohn's disease
chpo_term: 克罗恩氏病
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:2744):
Progressive external ophthalmoplegia and scoliosis
Horizontal gaze palsy with progressive scoliosis
HGPPS

Associated phenotypes (HPO):
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:0007817
hpo_term: Horizontal supranuclear gaze palsy
chpo_term: 水平核上性凝视麻痹
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
Disease (ORPHA:1412):
Tarsal-carpal coalition syndrome

Associated phenotypes (HPO):
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
Disease (ORPHA:488437):
SIX2-related frontonasal dysplasia
SIX2-related FND

Associated phenotypes (HPO):
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000537
hpo_term: Epicanthus inversus
chpo_term: 内眦赘皮倒转
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005453
hpo_term: Absent/hypoplastic paranasal sinuses
chpo_term: 副鼻窦缺如/发育不全
id: HP:0009119
hpo_term: Aplasia/Hypoplasia of the frontal sinuses
chpo_term: 额窦发育不良/发育不全
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002693
hpo_term: Abnormality of the skull base
chpo_term: 颅底异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005494
hpo_term: Premature posterior fontanelle closure
chpo_term: 后囟门过早闭合
id: HP:0010291
hpo_term: Prominent palatine ridges
chpo_term: 腭嵴突出
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
Disease (ORPHA:2746):
Opsismodysplasia

Associated phenotypes (HPO):
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003173
hpo_term: Hypoplastic pubic bone
chpo_term: 耻骨发育不全
id: HP:0003175
hpo_term: Hypoplastic ischia
chpo_term: 坐骨发育不全
id: HP:0003177
hpo_term: Squared iliac bones
chpo_term: 方形髂骨
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0008479
hpo_term: Hypoplastic vertebral bodies
chpo_term: 椎体发育不良
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化
Disease (ORPHA:1410):
Uncombable hair syndrome
Pili trianguli et canaliculi

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0002224
hpo_term: Woolly hair
chpo_term: 羊毛状发
id: HP:0002552
hpo_term: Trichodysplasia
chpo_term: 毛发发育异常
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
Disease (ORPHA:488434):
Camptodactyly syndrome, Guadalajara type 3

Associated phenotypes (HPO):
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0000935
hpo_term: Thickened cortex of long bones
chpo_term: 长骨骨皮质增厚
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001054
hpo_term: Numerous nevi
chpo_term: 多发性色素痣
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0006402
hpo_term: Distal shortening of limbs
chpo_term: 四肢远端缩短
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0010761
hpo_term: Broad columella
chpo_term: 宽鼻小柱
id: HP:0012036
hpo_term: Sternocleidomastoid amyotrophy
chpo_term: 胸锁乳突肌萎缩
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0012810
hpo_term: Wide nasal base
chpo_term: 宽鼻底
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0430007
hpo_term: Symblepharon
chpo_term: 睑球粘连
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
Disease (ORPHA:220393):
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis
Diffuse cutaneous systemic scleroderma
Diffuse cutaneous systemic sclerosis

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
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:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
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:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
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:0030016
hpo_term: Dyspareunia
chpo_term: 性交疼痛
id: HP:0030142
hpo_term: Abnormal bowel sounds
chpo_term: 肠鸣音异常
id: HP:0100520
hpo_term: Oliguria
chpo_term: 少尿症
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0100735
hpo_term: Hypertensive crisis
chpo_term: 高血压危象
id: HP:0100958
hpo_term: Narrow foramen obturatorium
chpo_term: 闭孔狭窄
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:79394):
CIE
Erythrodermic ichthyosis
Congenital ichthyosiform erythroderma
Non-bullous congenital ichthyosiform erythroderma

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
Disease (ORPHA:57145):
Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing
SUNCT syndrome

Associated phenotypes (HPO):
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0032148
hpo_term: Episodic pain
chpo_term: 阵发性疼痛
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001069
hpo_term: Episodic hyperhidrosis
chpo_term: 发作性多汗症
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0031417
hpo_term: Rhinorrhea
chpo_term: 鼻溢液
id: HP:0031731
hpo_term: Increased tear production
chpo_term: 泪液产量增加
id: HP:0100661
hpo_term: Trigeminal neuralgia
chpo_term: 三叉神经痛
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0001041
hpo_term: Facial erythema
chpo_term: 面部红斑
id: HP:0001742
hpo_term: Nasal congestion
chpo_term: 鼻塞
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0030766
hpo_term: Ear pain
chpo_term: 耳痛
id: HP:0040264
hpo_term: Jaw pain
chpo_term: 下颌疼痛
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐