TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:36386):
Hereditary sensory and autonomic neuropathy type 1
Hereditary sensory and autonomic neuropathy type I
HSAN1

Associated phenotypes (HPO):
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0002821
hpo_term: Neuropathic arthropathy
chpo_term: 神经性关节病
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100287
hpo_term: EMG: slow motor conduction
chpo_term: 肌电图:运动传导慢
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002270
hpo_term: Abnormality of the autonomic nervous system
chpo_term: 自主神经系统异常
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0007078
hpo_term: Decreased amplitude of sensory action potentials
chpo_term: 感觉动作电位波幅降低
id: HP:0031060
hpo_term: Impaired ability to dress oneself
chpo_term: 穿衣能力受损
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001026
hpo_term: Penetrating foot ulcers
chpo_term: 足部穿通性溃疡
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0006937
hpo_term: Impaired distal tactile sensation
chpo_term: 远端触觉感觉障碍
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0007550
hpo_term: Hypohidrosis or hyperhidrosis
chpo_term: 少汗/多汗症
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009763
hpo_term: Limb pain
chpo_term: 肢体疼痛
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0010834
hpo_term: Trophic changes related to pain
chpo_term: 与疼痛相关的营养改变
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
Disease (ORPHA:99981):
Apnea of prematurity

Associated phenotypes (HPO):
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
Disease (ORPHA:52416):
MCL
Mantle zone lymphoma
Mantle cell lymphoma
LCM

Associated phenotypes (HPO):
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0012191
hpo_term: B-cell lymphoma
chpo_term: B细胞淋巴瘤
Disease (ORPHA:85336):
X-linked neurodegenerative syndrome, Hamel type

Associated phenotypes (HPO):
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:52417):
Mucosa-associated lymphatic tissue lymphoma
Extranodal marginal zone B-cell lymphoma
MALT lymphoma
MALToma
Mucosa-associated lymphoid tissue lymphoma

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000614
hpo_term: Abnormal nasolacrimal system morphology
chpo_term: 鼻泪管系统的异常
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0012191
hpo_term: B-cell lymphoma
chpo_term: B细胞淋巴瘤
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0012123
hpo_term: Posterior uveitis
chpo_term: 后葡萄膜炎
Disease (ORPHA:60039):
Pudendal nerve entrapment syndrome
Pudendal neuropathy
Alcock syndrome
Pudendal neuralgia by pudendal nerve entrapment
Pudendalgia
Pudendal neuropathic pain syndrome
Pudendal neuralgia
Pudendal algia

Associated phenotypes (HPO):
id: HP:0012533
hpo_term: Allodynia
chpo_term: 痛觉过敏
id: HP:0030016
hpo_term: Dyspareunia
chpo_term: 性交疼痛
id: HP:0030155
hpo_term: Scrotal pain
chpo_term: 阴囊疼痛
id: HP:0030943
hpo_term: Vulvodynia
chpo_term: 外阴痛
id: HP:0032150
hpo_term: Paroxysmal rectal pain
chpo_term: 阵发性直肠疼痛
id: HP:0033345
hpo_term: Neuralgia
chpo_term: 神经抽搐（尤指头部或面部）
id: HP:0100515
hpo_term: Pollakisuria
chpo_term: 尿频
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0100639
hpo_term: Erectile dysfunction
chpo_term: 勃起功能障碍
id: HP:0500005
hpo_term: Anal pain
chpo_term: 肛门疼痛
id: HP:0034267
hpo_term: Pelvic pain
chpo_term: 骨盆痛
id: HP:0034805
id: HP:0034806
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001311
hpo_term: Abnormal nervous system electrophysiology
chpo_term: 神经系统电生理学异常
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0007379
hpo_term: Neoplasm of the genitourinary tract
chpo_term: 泌尿生殖道肿瘤
id: HP:0010787
hpo_term: Genital neoplasm
chpo_term: 生殖器肿瘤
id: HP:0030439
hpo_term: Anal canal adenocarcinoma
chpo_term: 肛管腺癌
Disease (ORPHA:85338):
X-linked intellectual disability-ataxia-apraxia syndrome

Associated phenotypes (HPO):
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:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
Disease (ORPHA:85332):
Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion
Aldred syndrome
Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3
X-linked intellectual disability-retinitis pigmentosa syndrome
Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
Disease (ORPHA:85334):
X-linked neurodegenerative syndrome, Bertini type

Associated phenotypes (HPO):
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0006538
hpo_term: Recurrent bronchopulmonary infections
chpo_term: 反复支气管肺感染
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
Disease (ORPHA:60032):
Recurrent respiratory papillomatosis

Associated phenotypes (HPO):
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002778
hpo_term: Abnormal tracheal morphology
chpo_term: 气管形态异常
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
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:0031246
hpo_term: Nonproductive cough
chpo_term: 干咳
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0030842
hpo_term: Choking episodes
chpo_term: 窒息发作
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
Disease (ORPHA:85335):
Fried syndrome

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
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:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
Disease (ORPHA:60033):
Idiopathic bronchiectasis

Associated phenotypes (HPO):
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002795
hpo_term: Abnormal respiratory system physiology
chpo_term: 呼吸系统生理异常
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0031245
hpo_term: Productive cough
chpo_term: 痰咳
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0005376
hpo_term: Recurrent Haemophilus influenzae infections
chpo_term: 反复流感嗜血杆菌感染
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0030877
hpo_term: Reduced FEV1/FVC ratio
chpo_term: 1秒率下降
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0011949
hpo_term: Acute infectious pneumonia
chpo_term: 急性感染性肺炎
id: HP:0100812
hpo_term: Halitosis
chpo_term: 口臭
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
Disease (ORPHA:60041):
Congenital heart block
Congenital atrioventricular block

Associated phenotypes (HPO):
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0001709
hpo_term: Third degree atrioventricular block
chpo_term: 三度房室传导阻滞
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0030365
hpo_term: Vaginal birth after Caesarian
chpo_term: 剖宫产术后阴道生产
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0005184
hpo_term: Prolonged QTc interval
chpo_term: QTc间期延长
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0011706
hpo_term: Second degree atrioventricular block
chpo_term: 二度房室传导阻滞
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012398
hpo_term: Peripheral edema
chpo_term: 周围性水肿
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0033113
hpo_term: Gallop rhythm
chpo_term: 奔马律
id: HP:0001706
hpo_term: Endocardial fibroelastosis
chpo_term: 心内膜弹力纤维增生症
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0031653
hpo_term: Abnormal heart valve physiology
chpo_term: 心脏瓣膜生理异常
Disease (ORPHA:2017):
Sternum bifidum
Cleft sternum
Sternal cleft

Associated phenotypes (HPO):
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0010309
hpo_term: Bifid sternum
chpo_term: 胸骨裂
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
Disease (ORPHA:2016):
CPLS syndrome
Cleft palate-lateral synechia syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
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:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0010285
hpo_term: Oral synechia
chpo_term: 口腔粘连
Disease (ORPHA:2015):
Cleft palate-short stature-vertebral anomalies syndrome
Mathieu-De Broca-Bony syndrome

Associated phenotypes (HPO):
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:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
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:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:60040):
Macrocephaly-capillary malformation syndrome
MCMTC
Megalencephaly-capillary malformation syndrome
MCAP
Megalencephaly-cutis marmorata telangiectatica congenita syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Macrocephaly-cutis marmorata telangiectatica congenita syndrome
MCM

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0001052
hpo_term: Nevus flammeus
chpo_term: 鲜红斑痣
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0100761
hpo_term: Visceral angiomatosis
chpo_term: 内脏血管瘤病
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:41751):
Bietti crystalline dystrophy
Bietti crystalline corneoretinal dystrophy
BCD
Bietti crystalline retinopathy

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000654
hpo_term: Decreased light- and dark-adapted electroretinogram amplitude
chpo_term: 光和暗适应视网膜电图振幅降低
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0007760
hpo_term: Crystalline corneal dystrophy
chpo_term: 结晶状角膜营养不良
id: HP:0030491
hpo_term: Choriocapillaris atrophy
chpo_term: 脉络膜毛细血管层萎缩
id: HP:0031528
hpo_term: Subretinal deposits
chpo_term: 视网膜下沉积物
id: HP:0200065
hpo_term: Chorioretinal degeneration
chpo_term: 脉络膜视网膜变性
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001129
hpo_term: Large central visual field defect
chpo_term: 中央大视野缺损
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
id: HP:0030528
hpo_term: Paracentral scotoma
chpo_term: 旁中央暗点
Disease (ORPHA:2013):
Cleft palate-large ears-small head syndrome
Say-Barber-Hobbs syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
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:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
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:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
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:0004428
hpo_term: Elfin facies
chpo_term: 小精灵脸
id: HP:0006709
hpo_term: Aplasia/Hypoplasia of the nipples
chpo_term: 乳头发育不全/不良
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
Disease (ORPHA:2010):
Cleft palate-stapes fixation-oligodontia syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0008513
hpo_term: Bilateral conductive hearing impairment
chpo_term: 双侧传导性听觉障碍
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0012225
hpo_term: Oligodontia of primary teeth
chpo_term: 乳牙减少
Disease (ORPHA:99977):
Esophageal epidermoid carcinoma
Esophageal squamous cell carcinoma
Squamous cell carcinoma of the esophagus
ESCC

Associated phenotypes (HPO):
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
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: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:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:99978):
Hilar cholangiocarcinoma
Klatskin tumor
Hilar CCA
Perihilar cholangiocarcinoma

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0012334
hpo_term: Extrahepatic cholestasis
chpo_term: 肝外胆汁淤积
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030153
hpo_term: Cholangiocarcinoma
chpo_term: 胆管癌