TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:908):
Martin-Bell syndrome
FXS
FraX syndrome
Fragile X syndrome
FRAXA syndrome

Associated phenotypes (HPO):
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
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:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
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:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
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: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:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
Disease (ORPHA:3109):
Rokitansky syndrome
MRKH syndrome
Mayer-Rokitansky-Küster-Hauser syndrome

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0008726
hpo_term: Hypoplasia of the vagina
chpo_term: 阴道发育不良
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0030016
hpo_term: Dyspareunia
chpo_term: 性交疼痛
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0005107
hpo_term: Abnormal sacrum morphology
chpo_term: 骶骨形态异常
id: HP:0010463
hpo_term: Aplasia of the ovary
chpo_term: 卵巢发育不全
id: HP:0030127
hpo_term: Endometriosis
chpo_term: 子宫内膜异位症
id: HP:0031086
hpo_term: Ectopic ovary
chpo_term: 卵巢异位
id: HP:0031703
hpo_term: Abnormal ear morphology
chpo_term: 耳形态异常
Disease (ORPHA:352682):
Lissencephaly type 2 without muscular or eye involvement
Cobblestone lissencephaly without muscular or eye involvement
Lissencephaly type 2 without muscular or ocular involvement
Cobblestone lissencephaly without muscular or ocular involvement

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0007260
hpo_term: Type II lissencephaly
chpo_term: Ⅱ型无脑回畸形
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012447
hpo_term: Abnormal myelination
chpo_term: 髓鞘异常
id: HP:0032398
hpo_term: Dysgyria
chpo_term: 脑回形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
Disease (ORPHA:901):
Eosinophilic cellulitis
Wells syndrome

Associated phenotypes (HPO):
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
Disease (ORPHA:227510):
Multiple system atrophy, cerebellar type
MSA, cerebellar type
Sporadic OPCA type 1
MSA-c
Sporadic olivopontocerebellar atrophy type 1

Associated phenotypes (HPO):
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002068
hpo_term: Neuromuscular dysphagia
chpo_term: 神经肌肉源性吞咽困难
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002494
hpo_term: Abnormal rapid eye movement sleep
chpo_term: 快速眼动期睡眠异常
id: HP:0002530
hpo_term: Axial dystonia
chpo_term: 轴向肌张力障碍
id: HP:0004926
hpo_term: Orthostatic hypotension due to autonomic dysfunction
chpo_term: 自主神经功能障碍性体位性低血压
id: HP:0005341
hpo_term: Autonomic bladder dysfunction
chpo_term: 自主性膀胱功能障碍
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0008652
hpo_term: Autonomic erectile dysfunction
chpo_term: 自主性勃起功能障碍
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0010536
hpo_term: Central sleep apnea
chpo_term: 中枢性睡眠呼吸暂停
id: HP:0010545
hpo_term: Downbeat nystagmus
chpo_term: 下击型眼球震颤
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:0012658
hpo_term: Abnormal brain FDG positron emission tomography
chpo_term: 脑FDG正电子发射断层扫描异常
id: HP:0012670
hpo_term: Orthostatic syncope
chpo_term: 直立性晕厥
id: HP:0030015
hpo_term: Female anorgasmia
chpo_term: 女性性感缺失病
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0100595
hpo_term: Camptocormia
chpo_term: 驼背
Disease (ORPHA:903):
Von Willebrand disease
Hereditary von Willebrand disease
Hereditary pseudohaemophilia

Associated phenotypes (HPO):
id: HP:0001872
hpo_term: Abnormality of thrombocytes
chpo_term: 血小板异常
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0008330
hpo_term: Reduced von Willebrand factor activity
chpo_term: 血管性血友病因子活性减低
id: HP:0011869
hpo_term: Abnormal platelet function
chpo_term: 血小板功能异常
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000471
hpo_term: Gastrointestinal angiodysplasia
chpo_term: 胃肠道血管发育不良
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001633
hpo_term: Abnormal mitral valve morphology
chpo_term: 二尖瓣形态异常
id: HP:0003125
hpo_term: Reduced factor VIII activity
chpo_term: 凝血因子VIII活性减低
id: HP:0030129
hpo_term: Impaired ristocetin cofactor assay activity
chpo_term: 瑞斯托菌素辅因子测定活性减低
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0004097
hpo_term: Deviation of finger
chpo_term: 手指偏离
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0005293
hpo_term: Venous insufficiency
chpo_term: 静脉功能不全
id: HP:0040242
hpo_term: Muscle hemorrhage
chpo_term: 肌肉出血
Disease (ORPHA:3101):
Myotonia-intellectual disability-skeletal anomalies syndrome
Richieri Costa-da Silva syndrome

Associated phenotypes (HPO):
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006462
hpo_term: Generalized bone demineralization
chpo_term: 广泛性骨矿质密度降低
id: HP:0011964
hpo_term: Intermittent painful muscle spasms
chpo_term: 间歇性痛性肌痉挛
id: HP:0012899
hpo_term: Handgrip myotonia
chpo_term: 抓握性肌强直
id: HP:0012903
hpo_term: Myotonia of the upper limb
chpo_term: 上肢肌强直
id: HP:0001621
hpo_term: Weak voice
chpo_term: 嗓音微弱
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0005638
hpo_term: Decreased anterioposterior diameter of lumbar vertebral bodies
chpo_term: 腰椎椎体前后径减小
id: HP:0008422
hpo_term: Vertebral wedging
chpo_term: 椎体楔形变
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0100288
hpo_term: EMG: myokymic discharges
chpo_term: 肌电图:肌纤维颤搐放电
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
id: HP:0007156
hpo_term: Asymmetric limb muscle stiffness
chpo_term: 不对称的肢体肌肉僵硬
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
Disease (ORPHA:3102):
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Richieri Costa-Pereira syndrome

Associated phenotypes (HPO):
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0006355
hpo_term: Agenesis of mandibular central incisor
chpo_term: 下颌中切牙发育不全
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:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000690
hpo_term: Agenesis of maxillary lateral incisor
chpo_term: 上颌侧切牙发育不全
id: HP:0001245
hpo_term: Small thenar eminence
chpo_term: 小鱼际小
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
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:0004987
hpo_term: Mesomelic leg shortening
chpo_term: 腿中段缩短
id: HP:0005011
hpo_term: Mesomelic arm shortening
chpo_term: 臂中段缩短
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0006536
hpo_term: Airway obstruction
chpo_term: 气道阻塞
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0010752
hpo_term: Cleft mandible
chpo_term: 下颌骨裂
id: HP:0012789
hpo_term: Hypoplasia of the calcaneus
chpo_term: 跟骨发育低下
id: HP:0200154
hpo_term: Agenesis of mandibular lateral incisor
chpo_term: 下颌侧切牙发育不全
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0008744
hpo_term: Abnormal aryepiglottic fold morphology
chpo_term: 杓会厌皱襞形态异常
id: HP:0010565
hpo_term: Aplasia/Hypoplasia of the Epiglottis
chpo_term: 会厌的发育缺陷/不全
id: HP:0011051
hpo_term: Agenesis of premolar
chpo_term: 前磨牙发育不全
Disease (ORPHA:59298):
Schilder disease
Myelinoclastic diffuse sclerosis

Associated phenotypes (HPO):
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
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:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
Disease (ORPHA:3104):
Pierre Robin sequence-oligodactyly syndrome
Robin sequence-oligodactyly syndrome

Associated phenotypes (HPO):
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0009380
hpo_term: Aplasia of the fingers
chpo_term: 手指发育不全
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
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:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
Disease (ORPHA:319218):
Ebola virus disease
Ebola fever
Ebola hemorrhagic fever
EHF

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0020071
hpo_term: Viremia
chpo_term: 病毒血症
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0025439
hpo_term: Pharyngitis
chpo_term: 咽炎
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001735
hpo_term: Acute pancreatitis
chpo_term: 急性胰腺炎
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
id: HP:0100247
hpo_term: Recurrent singultus
chpo_term: 反复性嗝逆
Disease (ORPHA:98880):
Familial afibrinogenemia

Associated phenotypes (HPO):
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0400008
hpo_term: Menometrorrhagia
chpo_term: 月经过多
Disease (ORPHA:98881):
Familial dysfibrinogenemia

Associated phenotypes (HPO):
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
Disease (ORPHA:169154):
T-B+ SCID due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

Associated phenotypes (HPO):
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0005415
hpo_term: Decreased proportion of CD8-positive T cells
chpo_term: CD8 + T细胞数目减低
id: HP:0031381
hpo_term: Decreased lymphocyte proliferation in response to mitogen
chpo_term: 淋巴细胞有丝分裂原应答性增殖减弱
id: HP:0045080
hpo_term: Decreased proportion of CD3-positive T cells
chpo_term: CD3+T细胞比例减低
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0005401
hpo_term: Recurrent candida infections
chpo_term: 反复念珠菌感染
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0025526
hpo_term: Psoriasiform lesion
chpo_term: 银屑病样皮损
id: HP:0040187
hpo_term: Neonatal sepsis
chpo_term: 新生儿败血症
id: HP:0100827
hpo_term: Lymphocytosis
chpo_term: 淋巴细胞增多症
Disease (ORPHA:300605):
JALS
Juvenile Lou Gehrig disease
Juvenile Charcot disease
Juvenile amyotrophic lateral sclerosis

Associated phenotypes (HPO):
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0005750
hpo_term: Lower-limb joint contracture
chpo_term: 下肢关节挛缩
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0031960
hpo_term: Arm dystonia
chpo_term: 臂肌张力障碍
id: HP:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
id: HP:0100360
hpo_term: Upper-limb joint contracture
chpo_term: 上肢关节挛缩
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002425
hpo_term: Anarthria
chpo_term: 构音障碍
id: HP:0002530
hpo_term: Axial dystonia
chpo_term: 轴向肌张力障碍
id: HP:0002544
hpo_term: Retrocollis
chpo_term: 颈后倾
id: HP:0002599
hpo_term: Head titubation
chpo_term: 点头
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0012048
hpo_term: Oromandibular dystonia
chpo_term: 口下颌肌张力障碍
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害