TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2634):
Reinhardt-Pfeiffer syndrome
Mesomelic dwarfism, Reinhardt-Pfeiffer type
Reinhardt-Pfeiffer mesomelic dysplasia

Associated phenotypes (HPO):
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0003048
hpo_term: Radial head subluxation
chpo_term: 桡骨头半脱位
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0010781
hpo_term: Skin dimple
chpo_term: 皮肤酒窝征
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (ORPHA:268882):
Arnold-Chiari malformation type I
Chiari malformation type I
Chiari malformation type 1
Arnold-Chiari malformation type 1

Associated phenotypes (HPO):
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002331
hpo_term: Recurrent paroxysmal headache
chpo_term: 反复发作性头痛
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0040010
hpo_term: Small posterior fossa
chpo_term: 后颅窝小
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001293
hpo_term: Cranial nerve compression
chpo_term: 颅神经受压
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
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:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002196
hpo_term: Myelopathy
chpo_term: 脊髓病
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0004602
hpo_term: Cervical C2/C3 vertebral fusion
chpo_term: 颈C2/C3椎体融合
id: HP:0004608
hpo_term: Anteriorly placed odontoid process
chpo_term: 齿状突前置
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0007067
hpo_term: Distal peripheral sensory neuropathy
chpo_term: 远端感觉性周围神经病变
id: HP:0009591
hpo_term: Abnormality of the vestibulocochlear nerve
chpo_term: 前庭耳蜗神经异常
id: HP:0010558
hpo_term: Abnormality of the clivus
chpo_term: 斜坡异常
id: HP:0010825
hpo_term: Abnormality of the eleventh cranial nerve
chpo_term: 第十一对颅神经异常
id: HP:0010826
hpo_term: Abnormality of the twelfth cranial nerve
chpo_term: 第十二对颅神经异常
id: HP:0011389
hpo_term: Functional abnormality of the inner ear
chpo_term: 内耳机能异常
id: HP:0012046
hpo_term: Areflexia of upper limbs
chpo_term: 上肢反射消失
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0025258
hpo_term: Stiff neck
chpo_term: 颈部僵硬
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001437
hpo_term: Abnormality of the musculature of the lower limbs
chpo_term: 下肢肌肉异常
id: HP:0002512
hpo_term: Brain stem compression
chpo_term: 脑干受压
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0005758
hpo_term: Basilar impression
chpo_term: 颅底压迹
id: HP:0008615
hpo_term: Adult onset sensorineural hearing impairment
chpo_term: 成人感觉神经性听力障碍
id: HP:0010536
hpo_term: Central sleep apnea
chpo_term: 中枢性睡眠呼吸暂停
id: HP:0012366
hpo_term: Basilar invagination
chpo_term: 颅底凹陷
id: HP:0030195
hpo_term: Fatigable weakness of swallowing muscles
chpo_term: 吞咽肌肉疲劳性无力
Disease (ORPHA:1302):
Cryptogenic organizing pneumonia
COP
BOOP
Bronchiolitis obliterans organizing pneumonia

Associated phenotypes (HPO):
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0032177
hpo_term: Parenchymal consolidation
chpo_term: 肺实变
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:0002039
hpo_term: Anorexia
chpo_term: 厌食症
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:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0031246
hpo_term: Nonproductive cough
chpo_term: 干咳
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0031994
hpo_term: Bronchial breath sound
chpo_term: 支气管呼吸音
id: HP:0032016
hpo_term: Abnormal sputum
chpo_term: 痰液异常
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
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:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0025421
hpo_term: Pneumomediastinum
chpo_term: 纵隔气肿
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
Disease (ORPHA:2635):
Metatropic dysplasia
Metatropic dwarfism

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
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:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002826
hpo_term: Halberd-shaped pelvis
chpo_term: 戟形骨盆
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003336
hpo_term: Abnormal enchondral ossification
chpo_term: 软骨内骨化异常
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005108
hpo_term: Abnormal intervertebral disk morphology
chpo_term: 椎间盘形态异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0008434
hpo_term: Hypoplastic cervical vertebrae
chpo_term: 颈椎发育不良
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100670
hpo_term: Coarse metaphyseal trabecularization
chpo_term: 干骺端小梁增粗
id: HP:0100818
hpo_term: Long thorax
chpo_term: 长胸廓
Disease (ORPHA:1300):
Autosomal dominant popliteal pterygium syndrome
Popliteal web syndrome
Facio-genito-popliteal syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000059
hpo_term: Hypoplastic labia majora
chpo_term: 大阴唇发育不良
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008288
hpo_term: Nonketotic hyperglycinemia
chpo_term: 非酮症性高甘氨酸血症
id: HP:0009754
hpo_term: Fibrous syngnathia
chpo_term: 纤维性牙槽嵴融合
id: HP:0009755
hpo_term: Ankyloblepharon
chpo_term: 睑缘粘连
id: HP:0009756
hpo_term: Popliteal pterygium
chpo_term: 腘窝翼状胬肉
id: HP:0100267
hpo_term: Lip pit
chpo_term: 唇点凹
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:2639):
Du Pan syndrome
Fibular aplasia-complex brachydactyly syndrome

Associated phenotypes (HPO):
id: HP:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002818
hpo_term: Abnormal morphology of the radius
chpo_term: 桡骨形态异常
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006492
hpo_term: Aplasia/Hypoplasia of the fibula
chpo_term: 腓骨发育不良/发育不全
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
Disease (ORPHA:293843):
Malpuech-Michels-Mingarelli-Carnevale syndrome
3MC syndrome
Craniofacial-ulnar-renal syndrome

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0006394
hpo_term: Limited pronation/supination of forearm
chpo_term: 前臂旋前或旋后受限
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000593
hpo_term: Abnormal anterior chamber morphology
chpo_term: 前房形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0002265
hpo_term: Large fleshy ears
chpo_term: 肥大耳
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002825
hpo_term: Caudal appendage
chpo_term: 尾部附属物
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0005105
hpo_term: Abnormal nasal morphology
chpo_term: 鼻形态异常
id: HP:0040016
hpo_term: Prominent coccyx
chpo_term: 突出的尾骨
Disease (ORPHA:90062):
Fulminant hepatic failure
Acute hepatic failure
Acute liver failure

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001404
hpo_term: Hepatocellular necrosis
chpo_term: 肝细胞坏死
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002605
hpo_term: Hepatic necrosis
chpo_term: 肝坏死
id: HP:0002614
hpo_term: Hepatic periportal necrosis
chpo_term: 肝脏门脉周围坏死
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0002795
hpo_term: Abnormal respiratory system physiology
chpo_term: 呼吸系统生理异常
id: HP:0003225
hpo_term: Reduced coagulation factor V activity
chpo_term: 凝血因子V活性减低
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0008169
hpo_term: Reduced factor VII activity
chpo_term: 凝血因子VII活性减低
id: HP:0008321
hpo_term: Reduced factor X activity
chpo_term: 凝血因子X活性减低
id: HP:0030977
hpo_term: Increased factor VIII activity
chpo_term: 因子VIII活性增高
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
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:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
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:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001948
hpo_term: Alkalosis
chpo_term: 碱中毒
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002625
hpo_term: Deep venous thrombosis
chpo_term: 深静脉血栓形成
id: HP:0002883
hpo_term: Hyperventilation
chpo_term: 过度通气
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0012417
hpo_term: Hypocapnia
chpo_term: 低碳酸血症
id: HP:0031273
hpo_term: Shock
chpo_term: 休克
id: HP:0031844
hpo_term: Euphoria
chpo_term: 欣快症
Disease (ORPHA:1309):
Precalicial canalicular ectasia
Medullary sponge kidney
MSK
Cacchi-Ricci disease

Associated phenotypes (HPO):
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001528
hpo_term: Hemihypertrophy
chpo_term: 偏身肥大
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0008341
hpo_term: Distal renal tubular acidosis
chpo_term: 远端肾小管性酸中毒
Disease (ORPHA:90064):
Acute peripheral arterial occlusion

Associated phenotypes (HPO):
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0009763
hpo_term: Limb pain
chpo_term: 肢体疼痛
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
id: HP:0025018
hpo_term: Abnormal capillary physiology
chpo_term: 毛细血管生理异常
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0006937
hpo_term: Impaired distal tactile sensation
chpo_term: 远端触觉感觉障碍
id: HP:0030846
hpo_term: Abnormality of venous physiology
chpo_term: 静脉生理异常
id: HP:0031271
hpo_term: Absent ankle pulse
chpo_term: 踝脉缺失
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0004755
hpo_term: Supraventricular tachycardia
chpo_term: 室上性心动过速
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
Disease (ORPHA:1307):
Buttiens-Fryns syndrome
10q24 microduplication syndrome
Distal limb deficiencies-micrognathia syndrome

Associated phenotypes (HPO):
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
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
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
Disease (ORPHA:90065):
Acquired aneurysmal subarachnoid hemorrhage

Associated phenotypes (HPO):
id: HP:0009145
hpo_term: Abnormal cerebral artery morphology
chpo_term: 脑动脉形态异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
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:0012250
hpo_term: ST segment depression
chpo_term: ST段压低
id: HP:0025637
hpo_term: Vasospasm
chpo_term: 血管痉挛
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0005184
hpo_term: Prolonged QTc interval
chpo_term: QTc间期延长
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0030955
hpo_term: Alcoholism
chpo_term: 酗酒
id: HP:0031058
hpo_term: Impairment of activities of daily living
chpo_term: 日常生活活动障碍
id: HP:0031885
hpo_term: Hyperglycorrhachia
chpo_term: 脑脊液糖增多
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
Disease (ORPHA:442582):
Heavy chain amyloidosis
AH amyloidosis

Associated phenotypes (HPO):
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001917
hpo_term: Renal amyloidosis
chpo_term: 肾淀粉样病变
id: HP:0030843
hpo_term: Cardiac amyloidosis
chpo_term: 心脏淀粉样变性
id: HP:0031047
hpo_term: Paraproteinemia
chpo_term: 副蛋白血症
id: HP:0031185
hpo_term: Increased circulating NT-proBNP concentration
chpo_term: NT-proBNP水平增高
id: HP:0100292
hpo_term: Amyloidosis of peripheral nerves
chpo_term: 周围神经的淀粉样变性病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
Disease (ORPHA:314389):
Kaya-Prontera syndrome
Dup(X)(q12-q13.3)
Xq12-q13.3 duplication syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003282
hpo_term: Low alkaline phosphatase
chpo_term: 低碱性磷酸酶
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001054
hpo_term: Numerous nevi
chpo_term: 多发性色素痣
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0009908
hpo_term: Anterior creases of earlobe
chpo_term: 耳垂前襞
id: HP:0011265
hpo_term: Cleft earlobe
chpo_term: 耳垂裂
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0012751
hpo_term: Abnormal basal ganglia MRI signal intensity
chpo_term: 核磁共振基底节异常信
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:0100739
hpo_term: Bulimia
chpo_term: 贪食症