TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:254519):
Kagami-Ogata syndrome
KOS

Associated phenotypes (HPO):
id: HP:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
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: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:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006267
hpo_term: Large placenta
chpo_term: 大胎盘
id: HP:0006665
hpo_term: Coat hanger sign of ribs
chpo_term: 衣架样肋骨
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0000205
hpo_term: Pursed lips
chpo_term: 撅起的嘴唇
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0011335
hpo_term: Frontal hirsutism
chpo_term: 前额多毛
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0002884
hpo_term: Hepatoblastoma
chpo_term: 肝母细胞瘤
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
Disease (ORPHA:254509):
Inadvertent botulism
Iatrogenic botulism

Associated phenotypes (HPO):
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0006597
hpo_term: Diaphragmatic paralysis
chpo_term: 膈肌麻痹
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
Disease (ORPHA:97336):
Aseptic necrosis of the capital humerus
Panner disease
Osteochondrosis of the capital humerus

Associated phenotypes (HPO):
id: HP:0009810
hpo_term: Abnormality of upper limb joint
chpo_term: 上肢关节异常
id: HP:0040188
hpo_term: Osteochondrosis
chpo_term: 骨软骨炎
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0031095
hpo_term: Abnormal humerus morphology
chpo_term: 肱骨形态异常
id: HP:0030835
hpo_term: Elbow pain
chpo_term: 手肘痛
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0003945
hpo_term: Irregular articular surfaces of the elbow joints
chpo_term: 肘关节不规则关节面
id: HP:0025259
hpo_term: Stiff elbow
chpo_term: 肘部僵硬
id: HP:0030865
hpo_term: Large elbow
chpo_term: 肘关节偏大
Disease (ORPHA:207):
Crouzon syndrome
Crouzon craniofacial dysostosis

Associated phenotypes (HPO):
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
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:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0005107
hpo_term: Abnormal sacrum morphology
chpo_term: 骶骨形态异常
id: HP:0011324
hpo_term: Multiple suture craniosynostosis
chpo_term: 多个颅缝早闭
id: HP:0011386
hpo_term: Narrow internal auditory canal
chpo_term: 内听道狭窄
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
Disease (ORPHA:97335):
Osgood-Schlatter disease
Osteochondrosis of the tibial tubercle
Aseptic necrosis of the tibial tubercle

Associated phenotypes (HPO):
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003045
hpo_term: Abnormal patella morphology
chpo_term: 髌骨形态异常
id: HP:0003066
hpo_term: Limited knee extension
chpo_term: 伸膝受限
id: HP:0006456
hpo_term: Irregular proximal tibial epiphyses
chpo_term: 胫骨近端骨骺不规则
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0030866
hpo_term: Large knee
chpo_term: 膝关节偏大
Disease (ORPHA:204):
Sporadic Creutzfeldt-Jakob disease
Sporadic CJD

Associated phenotypes (HPO):
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0006790
hpo_term: Cerebral cortex with spongiform changes
chpo_term: 大脑皮质海绵状改变
id: HP:0012672
hpo_term: Akinetic mutism
chpo_term: 运动不能缄默症
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002100
hpo_term: Recurrent aspiration pneumonia
chpo_term: 反复吸入性肺炎
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0002446
hpo_term: Astrocytosis
chpo_term: 星形胶质细胞增殖
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
Disease (ORPHA:137817):
Chronic arachnoiditis
Arachnoiditis
Adhesive arachnoiditis

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:97339):
Cranial dural arteriovenous malformations
Dural sinus malformation
Cranial dural arteriovenous fistula

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0004947
hpo_term: Arteriovenous fistula
chpo_term: 动静脉瘘
id: HP:0008629
hpo_term: Pulsatile tinnitus
chpo_term: 搏动性耳鸣
id: HP:0030724
hpo_term: Central nervous system cyst
chpo_term: 中枢神经系统囊肿
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000932
hpo_term: Abnormal posterior cranial fossa morphology
chpo_term: 后颅窝形态异常
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002196
hpo_term: Myelopathy
chpo_term: 脊髓病
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0011695
hpo_term: Cerebellar hemorrhage
chpo_term: 小脑出血
id: HP:0012375
hpo_term: Chemosis
chpo_term: 球结膜水肿
id: HP:0031157
hpo_term: Carotid cavernous fistula
chpo_term: 颈动脉海绵窦瘘
id: HP:0100309
hpo_term: Subdural hemorrhage
chpo_term: 硬膜下出血
id: HP:3000043
hpo_term: Abnormal facial vein morphology
chpo_term: 面静脉形态异常
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
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:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0007333
hpo_term: Hypoplasia of the frontal lobes
chpo_term: 额叶发育不良
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0030766
hpo_term: Ear pain
chpo_term: 耳痛
Disease (ORPHA:205):
Bilirubin-UGT deficiency
Bilirubin uridinediphosphate glucuronosyltransferase deficiency
Crigler-Najjar syndrome

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0008282
hpo_term: Unconjugated hyperbilirubinemia
chpo_term: 高非结合胆红素血症
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001343
hpo_term: Kernicterus
chpo_term: 核黄疸
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0006958
hpo_term: Abnormal auditory evoked potentials
chpo_term: 听觉诱发电位异常
id: HP:0025430
hpo_term: High-pitched cry
chpo_term: 高调哭声
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:97337):
Sinding-Larsen-Johansson disease
Osteochondrosis of patella
Aseptic necrosis of patella

Associated phenotypes (HPO):
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0010501
hpo_term: Limitation of knee mobility
chpo_term: 膝关节活动受限
id: HP:0040188
hpo_term: Osteochondrosis
chpo_term: 骨软骨炎
id: HP:0002661
hpo_term: Painless fractures due to injury
chpo_term: 外伤性无痛骨折
Disease (ORPHA:200):
Isolated corpus callosum agenesis

Associated phenotypes (HPO):
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0031843
hpo_term: Bradyphrenia
chpo_term: 智力迟钝
id: HP:6000915
Disease (ORPHA:199244):
Nelson syndrome

Associated phenotypes (HPO):
id: HP:0011744
hpo_term: Secondary hypercortisolism
chpo_term: 继发性皮质醇增多症
id: HP:0011749
hpo_term: Adrenocorticotropic hormone excess
chpo_term: 促肾上腺皮质激素过多
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0008291
hpo_term: Pituitary corticotropic cell adenoma
chpo_term: 垂体促肾上腺皮质激素腺瘤
id: HP:0012030
hpo_term: Increased urinary cortisol level
chpo_term: 尿皮质醇水平增高
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0007924
hpo_term: Slow decrease in visual acuity
chpo_term: 视力缓慢下降
id: HP:0030521
hpo_term: Bitemporal hemianopia
chpo_term: 双颞侧偏盲
id: HP:0030591
hpo_term: Abnormal kinetic perimetry test
chpo_term: 动态视野检查异常
id: HP:0000830
hpo_term: Anterior hypopituitarism
chpo_term: 垂体前叶功能减退症
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0007807
hpo_term: Optic nerve compression
chpo_term: 视神经受压
id: HP:0009050
hpo_term: Quadriceps muscle atrophy
chpo_term: 股四头肌肌肉萎缩
id: HP:0012246
hpo_term: Oculomotor nerve palsy
chpo_term: 动眼神经麻痹
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0010788
hpo_term: Testicular neoplasm
chpo_term: 睾丸肿瘤
id: HP:0011763
hpo_term: Pituitary carcinoma
chpo_term: 垂体腺癌
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0430022
hpo_term: Abnormality of the sphenoid sinus
chpo_term: 蝶窦异常
Disease (ORPHA:97332):
Aseptic necrosis of the lunate bone
Progressive avascular necrosis of the lunate bone
Lunatomalacia
Kienbock disease
Osteochondrosis of the lunate bone

Associated phenotypes (HPO):
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0010886
hpo_term: Osteochondritis dissecans
chpo_term: 剥脱性骨软骨炎
Disease (ORPHA:263458):
Hyperinsulinism due to INSR deficiency
Hyperinsulinemic hypoglycemia due to INSR deficiency
Hyperinsulinemic hypoglycemia due to insulin receptor deficiency

Associated phenotypes (HPO):
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001988
hpo_term: Recurrent hypoglycemia
chpo_term: 反复发作性低血糖
id: HP:0008283
hpo_term: Fasting hyperinsulinemia
chpo_term: 空腹高胰岛素血症
id: HP:0030794
hpo_term: Abnormal C-peptide level
chpo_term: C-肽水平异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (ORPHA:97330):
Thoracic outlet syndrome
Thoracic outlet compression syndrome
TOS

Associated phenotypes (HPO):
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
Disease (ORPHA:263455):
Congenital hyperinsulinism due to HNF4A deficiency
Hyperinsulinemic hypoglycemia due to HNF4A deficiency

Associated phenotypes (HPO):
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
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:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001985
hpo_term: Hypoketotic hypoglycemia
chpo_term: 低酮性低血糖
id: HP:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0004324
hpo_term: Increased body weight
chpo_term: 体重增加
id: HP:0004359
hpo_term: Abnormal circulating fatty-acid concentration
chpo_term: 脂肪酸代谢异常
id: HP:0004510
hpo_term: Pancreatic islet-cell hyperplasia
chpo_term: 胰岛细胞增生
id: HP:0004912
hpo_term: Hypophosphatemic rickets
chpo_term: 低磷性佝偻病
id: HP:0005979
hpo_term: Metabolic ketoacidosis
chpo_term: 代谢性酮症酸中毒
id: HP:0006568
hpo_term: Increased hepatic glycogen content
chpo_term: 肝糖原含量增高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:199241):
Pulmonary capillary hemangiomatosis

Associated phenotypes (HPO):
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0005954
hpo_term: Pulmonary capillary hemangiomatosis
chpo_term: 肺毛细血管瘤病
id: HP:0025104
hpo_term: Capillary malformation
chpo_term: 毛细血管畸形
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0030879
hpo_term: Interlobular septal thickening
chpo_term: 小叶间隔增厚
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0004890
hpo_term: Elevated pulmonary artery pressure
chpo_term: 肺动脉压升高
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0012151
hpo_term: Hemothorax
chpo_term: 血胸
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0025180
hpo_term: Centrilobular ground-glass opacification on pulmonary HRCT
chpo_term: 肺部HRCT可见小叶中心性毛玻璃样结构
id: HP:0025420
hpo_term: Diffuse alveolar hemorrhage
chpo_term: 弥漫性肺泡出血
id: HP:0030968
hpo_term: Abnormal pulmonary vein morphology
chpo_term: 肺静脉畸形
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0032230
hpo_term: Cytoplasmic antineutrophil antibody positivity
chpo_term: 细胞质抗中性粒细胞抗体阳性
Disease (ORPHA:209970):
Episodic ataxia type 7

Associated phenotypes (HPO):
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002131
hpo_term: Episodic ataxia
chpo_term: 发作性共济失调
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002411
hpo_term: Myokymia
chpo_term: 肌纤维颤搐
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害