TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:420179):
Malan overgrowth syndrome
Sotos syndrome 2

Associated phenotypes (HPO):
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
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:0000300
hpo_term: Oval face
chpo_term: 卵形脸
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
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:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
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:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002131
hpo_term: Episodic ataxia
chpo_term: 发作性共济失调
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0007766
hpo_term: Optic disc hypoplasia
chpo_term: 视盘发育不良
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
Disease (ORPHA:3344):
Weismann-Netter syndrome
Toxopachyosteose diaphysaire tibio-peroniere
Weismann-Netter-Stuhl syndrome
Anterior bowing of legs with dwarfism
WNS

Associated phenotypes (HPO):
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0010502
hpo_term: Fibular bowing
chpo_term: 腓骨弯曲
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0003177
hpo_term: Squared iliac bones
chpo_term: 方形髂骨
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0031095
hpo_term: Abnormal humerus morphology
chpo_term: 肱骨形态异常
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
Disease (ORPHA:3346):
Tracheal agenesis
Tracheal atresia

Associated phenotypes (HPO):
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0100682
hpo_term: Tracheal atresia
chpo_term: 气管闭锁
Disease (ORPHA:2019):
FFU complex
Femur-fibula-ulna dysostosis
Femur-fibula-ulna syndrome
Femur-fibula-ulna complex

Associated phenotypes (HPO):
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003041
hpo_term: Humeroradial synostosis
chpo_term: 肱桡骨性融合
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0009812
hpo_term: Amelia involving the upper limbs
chpo_term: 上肢缺肢
id: HP:0100560
hpo_term: Upper limb asymmetry
chpo_term: 上肢不对称
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009828
hpo_term: Peromelia
chpo_term: 四肢不全
Disease (ORPHA:3347):
Tracheobronchomegaly
Mounier-Kühn syndrome
Idiopathic tracheobronchomegaly
Congenital tracheobronchomegaly

Associated phenotypes (HPO):
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0006538
hpo_term: Recurrent bronchopulmonary infections
chpo_term: 反复支气管肺感染
id: HP:0010776
hpo_term: Tracheobronchmegaly
chpo_term: 气管支气管肥大
id: HP:0012387
hpo_term: Bronchitis
chpo_term: 支气管炎
Disease (ORPHA:99976):
Esophageal adenocarcinoma
Adenocarcinoma of the oesophagus and oesophagogastric junction
Adenocarcinoma of the esophagus

Associated phenotypes (HPO):
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001864
hpo_term: Clinodactyly of the 5th toe
chpo_term: 第五趾屈曲畸形
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:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0011459
hpo_term: Esophageal carcinoma
chpo_term: 食管癌
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100580
hpo_term: Barrett esophagus
chpo_term: Barrett食管
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:352447):
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
PEO-myopathy-emaciation syndrome
mtDNA maintenance syndrome due to MGME1 deficiency
Mitochondrial DNA maintenance syndrome due to MGME1 deficiency

Associated phenotypes (HPO):
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
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:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0008443
hpo_term: Neuropathic spinal arthropathy
chpo_term: 神经性脊柱关节病
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0040013
hpo_term: Decreased mitochondrial number
chpo_term: 线粒体数量减少
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
Disease (ORPHA:3348):
Tracheopathia osteoplastica
Tracheobronchopathia osteochondroplastica

Associated phenotypes (HPO):
id: HP:0002787
hpo_term: Tracheal calcification
chpo_term: 气管钙化
id: HP:0031245
hpo_term: Productive cough
chpo_term: 痰咳
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0005607
hpo_term: Abnormal tracheobronchial morphology
chpo_term: 气管支气管系统形态异常
id: HP:0012387
hpo_term: Bronchitis
chpo_term: 支气管炎
id: HP:0025426
hpo_term: Abnormal bronchus morphology
chpo_term: 支气管形态异常
id: HP:0032016
hpo_term: Abnormal sputum
chpo_term: 痰液异常
id: HP:0100593
hpo_term: Calcification of cartilage
chpo_term: 软骨钙化
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0031352
hpo_term: Chest tightness
chpo_term: 胸闷
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
Disease (ORPHA:99971):
WDLS
Atypical lipoma
Well-differentiated liposarcoma
Atypical lipomatous tumor
ALT

Associated phenotypes (HPO):
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0012211
hpo_term: Abnormal renal physiology
chpo_term: 肾脏生理异常
Disease (ORPHA:85329):
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome

Associated phenotypes (HPO):
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
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:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
Disease (ORPHA:26137):
Non-giant cell granulomatous temporal arteritis with eosinophilia
Juvenile temporal arteritis
JTA

Associated phenotypes (HPO):
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:0200036
hpo_term: Skin nodule
chpo_term: 皮肤结节
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0003193
hpo_term: Allergic rhinitis
chpo_term: 过敏性鼻炎
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
Disease (ORPHA:52427):
RPA
Retinitis punctata albescens

Associated phenotypes (HPO):
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0008323
hpo_term: Abnormal light- and dark-adapted electroretinogram
chpo_term: 异常的明暗适应视网膜电流图
id: HP:0030506
hpo_term: Yellow/white lesions of the retina
chpo_term: 视网膜黄/白病变
id: HP:0030825
hpo_term: Absent foveal reflex
chpo_term: 黄斑中心凹反射缺失
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007675
hpo_term: Progressive night blindness
chpo_term: 渐进性夜盲症
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0007987
hpo_term: Progressive visual field defects
chpo_term: 进行性视野缺失
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
id: HP:0001142
hpo_term: Lenticonus
chpo_term: 圆锥形晶状体
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0031605
hpo_term: Abnormality of fundus pigmentation
chpo_term: 眼底色素沉着异常
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
Disease (ORPHA:52429):
Branchiootic syndrome

Associated phenotypes (HPO):
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000359
hpo_term: Abnormality of the inner ear
chpo_term: 内耳异常
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0008609
hpo_term: Morphological abnormality of the middle ear
chpo_term: 中耳形态异常
id: HP:0009795
hpo_term: Branchial fistula
chpo_term: 鳃裂瘘管
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000614
hpo_term: Abnormal nasolacrimal system morphology
chpo_term: 鼻泪管系统的异常
id: HP:0100267
hpo_term: Lip pit
chpo_term: 唇点凹
Disease (ORPHA:85325):
X-linked intellectual disability, Stevenson type

Associated phenotypes (HPO):
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0010761
hpo_term: Broad columella
chpo_term: 宽鼻小柱
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:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
Disease (ORPHA:85326):
X-linked intellectual disability, Stoll type

Associated phenotypes (HPO):
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002003
hpo_term: Large forehead
chpo_term: 大额头
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005281
hpo_term: Hypoplastic nasal bridge
chpo_term: 鼻梁发育不全
Disease (ORPHA:85327):
X-linked intellectual disability-acromegaly-hyperactivity syndrome

Associated phenotypes (HPO):
id: HP:0009745
hpo_term: Spinal arachnoid cyst
chpo_term: 脊髓蛛网膜囊肿
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:0003564
hpo_term: Folate-dependent fragile site at Xq28
chpo_term: 叶酸依赖性Xq28脆性位点
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0007361
hpo_term: Abnormal pons morphology
chpo_term: 桥脑形态异常
Disease (ORPHA:247353):
GPP
Generalized pustular psoriasis

Associated phenotypes (HPO):
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
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:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025252
hpo_term: Geographic tongue
chpo_term: 地图舌
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0100847
hpo_term: Palmoplantar pustulosis
chpo_term: 掌跖脓疱病
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
Disease (ORPHA:85321):
Martin-Probst syndrome
Deafness-intellectual disability syndrome, Martin-Probst type
X-linked hearing loss-intellectual disability syndrome
Hearing loss-intellectual disability syndrome, Martin-Probst type
X-linked deafness-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
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:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
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:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0006709
hpo_term: Aplasia/Hypoplasia of the nipples
chpo_term: 乳头发育不全/不良
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
Disease (ORPHA:85322):
X-linked intellectual disability, Pai type

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:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
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:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:329249):
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Associated phenotypes (HPO):
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0008763
hpo_term: No social interaction
chpo_term: 无社会交往
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症