TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2901):
Mononeuritis multiplex with brachial predilection
Neuralgic amyotrophy
Acute brachial plexus neuritis
Brachial plexus neuritis
Neuralgic shoulder amyotrophy
Immune brachial plexus neuropathy

Associated phenotypes (HPO):
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0009129
hpo_term: Upper limb amyotrophy
chpo_term: 上肢肌萎缩
id: HP:0012513
hpo_term: Upper limb pain
chpo_term: 上肢疼痛
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
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:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001063
hpo_term: Acrocyanosis
chpo_term: 手足发绀
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0033748
hpo_term: Hypoesthesia
chpo_term: 感觉迟钝
Disease (ORPHA:261190):
Del(15)(q14)
Monosomy 15q14
15q14 microdeletion syndrome
Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
Disease (ORPHA:2902):
Idiopathic chronic eosinophilic pneumonia
Chronic eosinophilic pneumonia

Associated phenotypes (HPO):
id: HP:0031983
hpo_term: Abnormal pulmonary thoracic imaging finding
chpo_term: 肺胸部影像学异常
id: HP:0032177
hpo_term: Parenchymal consolidation
chpo_term: 肺实变
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0006516
hpo_term: Hypersensitivity pneumonitis
chpo_term: 过敏性肺炎
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:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0031246
hpo_term: Nonproductive cough
chpo_term: 干咳
id: HP:0032017
hpo_term: Sputum eosinophilia
chpo_term: 痰液嗜酸性粒细胞增多症
id: HP:0032061
hpo_term: Hypereosinophilia
chpo_term: 高嗜酸性粒细胞
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:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
Disease (ORPHA:2903):
Familial spontaneous pneumothorax

Associated phenotypes (HPO):
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
Disease (ORPHA:420741):
RIDDLE syndrome
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
RNF168 deficiency

Associated phenotypes (HPO):
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0010997
hpo_term: Chromosomal breakage induced by ionizing radiation
chpo_term: 电离辐射诱发的染色体断裂
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0012387
hpo_term: Bronchitis
chpo_term: 支气管炎
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0000524
hpo_term: Conjunctival telangiectasia
chpo_term: 结膜毛细血管扩张
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
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:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0007057
hpo_term: Poor hand-eye coordination
chpo_term: 手眼协调性差
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0008940
hpo_term: Generalized lymphadenopathy
chpo_term: 全身性淋巴结肿大
id: HP:0010677
hpo_term: Enuresis nocturna
chpo_term: 遗尿症
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012768
hpo_term: Neonatal asphyxia
chpo_term: 新生儿窒息
id: HP:0030746
hpo_term: Intraventricular hemorrhage
chpo_term: 脑室内出血
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
Disease (ORPHA:314652):
Autosomal dominant beta2-microglobulinic amyloidosis
Variant ABeta2M amyloidosis

Associated phenotypes (HPO):
id: HP:0001917
hpo_term: Renal amyloidosis
chpo_term: 肾淀粉样病变
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0000157
hpo_term: Abnormality of the tongue
chpo_term: 舌异常
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:0003365
hpo_term: Arthralgia of the hip
chpo_term: 髋关节痛
id: HP:0005244
hpo_term: Gastrointestinal infarctions
chpo_term: 胃肠道梗塞
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0010286
hpo_term: Abnormal salivary gland morphology
chpo_term: 唾液腺形态异常
id: HP:0011805
hpo_term: Abnormal skeletal muscle morphology
chpo_term: 骨骼肌形态异常
id: HP:0011915
hpo_term: Cardiovascular calcification
chpo_term: 心血管钙化
id: HP:0012065
hpo_term: Multiple bony cystic lesions
chpo_term: 多发性骨囊性病变
id: HP:0012280
hpo_term: Hepatic amyloidosis
chpo_term: 肝淀粉样变性
id: HP:0012309
hpo_term: Cutaneous amyloidosis
chpo_term: 皮肤淀粉样变
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:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0025015
hpo_term: Abnormal vascular morphology
chpo_term: 血管形态异常
id: HP:0030834
hpo_term: Shoulder pain
chpo_term: 肩痛
id: HP:0030836
hpo_term: Wrist pain
chpo_term: 手腕关节痛
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0030843
hpo_term: Cardiac amyloidosis
chpo_term: 心脏淀粉样变性
id: HP:0031368
hpo_term: Intestinal perforation
chpo_term: 肠穿孔
id: HP:0100292
hpo_term: Amyloidosis of peripheral nerves
chpo_term: 周围神经的淀粉样变性病
Disease (ORPHA:314655):
Monosomy 5q31.3
5q31.3 microdeletion syndrome
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Del(5)(q31.3)

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0011167
hpo_term: Focal tonic seizure
chpo_term: 局灶性强直发作
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
Disease (ORPHA:552):
MODY
Maturity-onset diabetes of the young

Associated phenotypes (HPO):
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0004924
hpo_term: Abnormal oral glucose tolerance
chpo_term: 口服葡萄糖耐量异常
id: HP:0030794
hpo_term: Abnormal C-peptide level
chpo_term: C-肽水平异常
id: HP:0040214
hpo_term: Abnormal circulating insulin concentration
chpo_term: 循环胰岛素水平异常
id: HP:0040216
hpo_term: Hypoinsulinemia
chpo_term: 低胰岛素血症
id: HP:0040217
hpo_term: Elevated hemoglobin A1c
chpo_term: 糖化血红蛋白水平增高
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0000831
hpo_term: Insulin-resistant diabetes mellitus
chpo_term: 胰岛素抵抗性糖尿病
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0008255
hpo_term: Transient neonatal diabetes mellitus
chpo_term: 新生儿短暂性糖尿病
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0002594
hpo_term: Pancreatic hypoplasia
chpo_term: 胰腺发育不良
id: HP:0012028
hpo_term: Hepatocellular adenoma
chpo_term: 肝细胞腺瘤
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001953
hpo_term: Diabetic ketoacidosis
chpo_term: 糖尿病酮症酸中毒
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
Disease (ORPHA:551):
Myoclonus epilepsy associated with ragged-red fibres
Fukuhara syndrome
MERRF

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:261183):
15q11.2 microdeletion syndrome
15q11.2 BP1-BP2 microdeletion syndrome
Del(15)(q11.2)
Monosomy 15q11.2

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0006891
hpo_term: Thick cerebral cortex
chpo_term: 大脑皮层增厚
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
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:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
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:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0005160
hpo_term: Total anomalous pulmonary venous return
chpo_term: 完全性肺静脉回流异常
Disease (ORPHA:500533):
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
PMSE syndrome

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001355
hpo_term: Megalencephaly
chpo_term: 巨脑
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0012430
hpo_term: Cerebral white matter hypoplasia
chpo_term: 脑白质发育不良
id: HP:0030891
hpo_term: Periventricular white matter hyperintensities
chpo_term: 脑室旁白质高信号
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0011182
hpo_term: Interictal epileptiform activity
chpo_term: 发作间期癫痫样放电
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:549):
Legionnaires disease

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
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:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
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:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
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:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0100584
hpo_term: Endocarditis
chpo_term: 心内膜炎
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100776
hpo_term: Recurrent pharyngitis
chpo_term: 复发性咽炎
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症