TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:1538):
Braddock-Jones-Superneau syndrome
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0005472
hpo_term: Orbital craniosynostosis
chpo_term: 眶颅缝早闭
Disease (ORPHA:2863):
Stratton-Parker syndrome
Short stature-wormian bones-dextrocardia syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000187
hpo_term: Broad alveolar ridges
chpo_term: 宽牙槽嵴
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000288
hpo_term: Abnormality of the philtrum
chpo_term: 人中异常
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:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000437
hpo_term: Depressed nasal tip
chpo_term: 鼻尖凹陷
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000830
hpo_term: Anterior hypopituitarism
chpo_term: 垂体前叶功能减退症
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0012854
hpo_term: Midshaft hypospadias
chpo_term: 中段尿道下裂
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:156):
Hepatic carnitine palmitoyl transferase 1 deficiency
Hepatic carnitine palmitoyl transferase I deficiency
CPT1A deficiency
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase IA deficiency
L-CPT1 deficiency
L-CPTI deficiency

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001947
hpo_term: Renal tubular acidosis
chpo_term: 肾小管性酸中毒
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0008279
hpo_term: Transient hyperlipidemia
chpo_term: 短暂性高脂血症
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:276280):
Hemihyperplasia-multiple lipomatosis syndrome
HHML

Associated phenotypes (HPO):
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0004099
hpo_term: Macrodactyly
chpo_term: 巨指
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0001051
hpo_term: Seborrheic dermatitis
chpo_term: 脂溢性皮炎
id: HP:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0002624
hpo_term: Abnormal venous morphology
chpo_term: 静脉形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0010714
hpo_term: 2-4 toe syndactyly
chpo_term: 第二至第四脚趾并趾
id: HP:0012887
hpo_term: Ovarian serous cystadenoma
chpo_term: 卵巢浆液性囊腺瘤
id: HP:0040009
hpo_term: Hyperparakeratosis
chpo_term: 过度角化不全
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0100763
hpo_term: Abnormality of the lymphatic system
chpo_term: 淋巴系统异常
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
Disease (ORPHA:158):
Deficiency of plasma-membrane carnitine transporter
Carnitine transporter defect
CUD
Systemic primary carnitine deficiency
SPCD
CDSP
Carnitine uptake deficiency

Associated phenotypes (HPO):
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0006846
hpo_term: Acute encephalopathy
chpo_term: 急性脑病
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
Disease (ORPHA:157):
CPTII
CPT2
Carnitine palmitoyltransferase deficiency type 2
Carnitine palmitoyltransferase II deficiency

Associated phenotypes (HPO):
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0012380
hpo_term: Reduced carnitine O-palmitoyltransferase level
chpo_term: 肉毒碱棕榈酰转移酶活性降低
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0008315
hpo_term: Decreased plasma free carnitine
chpo_term: 血浆游离肉碱降低
id: HP:0011936
hpo_term: Decreased plasma total carnitine
chpo_term: 血浆总肉碱降低
id: HP:0040320
hpo_term: Red-brown urine
chpo_term: 红棕色尿液
id: HP:0045045
hpo_term: Elevated circulating acylcarnitine concentration
chpo_term: 血浆酰基肉碱水平升高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0003449
hpo_term: Cold-induced muscle cramps
chpo_term: 冷刺激引起的肌肉痉挛
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0008682
hpo_term: Renal tubular epithelial necrosis
chpo_term: 肾小管上皮细胞坏死
id: HP:0011964
hpo_term: Intermittent painful muscle spasms
chpo_term: 间歇性痛性肌痉挛
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000800
hpo_term: Cystic renal dysplasia
chpo_term: 囊性肾发育不良
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001985
hpo_term: Hypoketotic hypoglycemia
chpo_term: 低酮性低血糖
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0006559
hpo_term: Hepatic calcification
chpo_term: 肝钙化
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
Disease (ORPHA:154):
Familial or idiopathic dilated cardiomyopathy
Familial isolated dilated cardiomyopathy

Associated phenotypes (HPO):
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0025169
hpo_term: Left ventricular systolic dysfunction
chpo_term: 左心室收缩功能障碍
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012764
hpo_term: Orthopnea
chpo_term: 端坐式呼吸
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001727
hpo_term: Thromboembolic stroke
chpo_term: 血栓栓塞性脑卒中
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
Disease (ORPHA:289596):
JNA
Juvenile nasopharyngeal angiofibroma

Associated phenotypes (HPO):
id: HP:0030429
hpo_term: Juvenile nasopharyngeal angiofibroma
chpo_term: 幼年型鼻咽血管纤维瘤
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001742
hpo_term: Nasal congestion
chpo_term: 鼻塞
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0012198
hpo_term: Juvenile colonic polyposis
chpo_term: 幼年性结肠息肉病
Disease (ORPHA:168816):
Multilocular peritoneal inclusion cyst
Peritoneal inclusion cyst
Peritoneal cyctic mesothelioma
Benign multicystic peritoneal mesothelioma
Multicystic mesothelioma

Associated phenotypes (HPO):
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0030016
hpo_term: Dyspareunia
chpo_term: 性交疼痛
id: HP:0100608
hpo_term: Metrorrhagia
chpo_term: 子宫出血
Disease (ORPHA:633228):
CPFD
Isolated proximal femoral focal deficiency
PFFD
Isolated congenital proximal femoral deficiency

Associated phenotypes (HPO):
id: HP:0005613
hpo_term: Aplasia/hypoplasia of the femur
chpo_term: 股骨发育不良/发育不全
id: HP:0009108
hpo_term: Aplasia/Hypoplasia involving the femoral head and neck
chpo_term: 股骨头和股骨颈发育不良/发育不全
id: HP:0011428
hpo_term: Short fetal femur length
chpo_term: 胎儿股骨短小
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0008800
hpo_term: Limited hip movement
chpo_term: 髋部运动受限
id: HP:0010501
hpo_term: Limitation of knee mobility
chpo_term: 膝关节活动受限
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
Disease (ORPHA:168811):
Diffuse malignant peritoneal mesothelioma
Primary malignant peritoneal mesothelioma
Malignant peritoneal mesothelioma

Associated phenotypes (HPO):
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0002595
hpo_term: Ileus
chpo_term: 肠梗阻
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
Disease (ORPHA:293621):
X-linked endothelial corneal dystrophy
XECD

Associated phenotypes (HPO):
id: HP:0000585
hpo_term: Band keratopathy
chpo_term: 带状角膜病
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0011488
hpo_term: Abnormal corneal endothelium morphology
chpo_term: 角膜内皮形态异常
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
Disease (ORPHA:46724):
Intracranial arteriovenous malformation
Cerebral arteriovenous malformation

Associated phenotypes (HPO):
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
id: HP:0100761
hpo_term: Visceral angiomatosis
chpo_term: 内脏血管瘤病
id: HP:0100784
hpo_term: Peripheral arteriovenous fistula
chpo_term: 外围动静脉瘘
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0030746
hpo_term: Intraventricular hemorrhage
chpo_term: 脑室内出血
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:5200044
Disease (ORPHA:93958):
Oromandibular dystonia

Associated phenotypes (HPO):
id: HP:0000277
hpo_term: Abnormal mandible morphology
chpo_term: 下颌骨形态异常
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0010754
hpo_term: Abnormality of the temporomandibular joint
chpo_term: 颞下颌关节异常
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0000159
hpo_term: Abnormal lip morphology
chpo_term: 唇形态异常
id: HP:0000273
hpo_term: Facial grimacing
chpo_term: 面部表情痛苦
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0012049
hpo_term: Laryngeal dystonia
chpo_term: 喉肌张力障碍
id: HP:0031008
hpo_term: Lingual dystonia
chpo_term: 舌肌肌张力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
Disease (ORPHA:93952):
X-linked intellectual disability, Hedera type
MRXSH

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002600
hpo_term: Hyporeflexia of lower limbs
chpo_term: 下肢反射减弱
id: HP:0007076
hpo_term: Extrapyramidal muscular rigidity
chpo_term: 锥体外系肌强直
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0012391
hpo_term: Hyporeflexia of upper limbs
chpo_term: 上肢反射减弱
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001621
hpo_term: Weak voice
chpo_term: 嗓音微弱
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001848
hpo_term: Calcaneovalgus deformity
chpo_term: 足外翻畸形
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0010527
hpo_term: Astereognosia
chpo_term: 实体觉缺失
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0011812
hpo_term: Agraphesthesia
chpo_term: 图写感丧失
Disease (ORPHA:30391):
Isolated atresia of bile ducts
Isolated biliary atresia
Non-syndromic biliary atresia

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001525
hpo_term: Severe failure to thrive
chpo_term: 严重生长障碍
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002630
hpo_term: Fat malabsorption
chpo_term: 脂肪吸收障碍
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0011984
hpo_term: Atretic gallbladder
chpo_term: 胆囊闭锁
id: HP:0011985
hpo_term: Acholic stools
chpo_term: 无胆色大便
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0040321
hpo_term: Dark yellow urine
chpo_term: 深黄色尿液
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001405
hpo_term: Periportal fibrosis
chpo_term: 门静脉周围纤维化
id: HP:0001408
hpo_term: Bile duct proliferation
chpo_term: 胆管增生
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
Disease (ORPHA:53035):
Caroli disease

Associated phenotypes (HPO):
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001406
hpo_term: Intrahepatic cholestasis
chpo_term: 肝内胆汁淤积
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0030151
hpo_term: Cholangitis
chpo_term: 胆管炎
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
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:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0032106
hpo_term: Conjunctival icterus
chpo_term: 结膜黄疸
id: HP:0032545
hpo_term: Abdominal rigidity
chpo_term: 腹部强直
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0002613
hpo_term: Biliary cirrhosis
chpo_term: 胆汁性肝硬化
id: HP:0030153
hpo_term: Cholangiocarcinoma
chpo_term: 胆管癌
id: HP:0100523
hpo_term: Liver abscess
chpo_term: 肝脓肿
id: HP:0001405
hpo_term: Periportal fibrosis
chpo_term: 门静脉周围纤维化
id: HP:0045056
hpo_term: Abnormal levels of alpha-fetoprotein
chpo_term: 甲胎蛋白水平异常
Disease (ORPHA:93950):
X-linked intellectual disability, Sutherland-Haan type

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
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:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
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:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
Disease (ORPHA:145):
Hereditary breast and/or ovarian cancer syndrome

Associated phenotypes (HPO):
id: HP:0011027
hpo_term: Abnormal fallopian tube morphology
chpo_term: 输卵管形态异常
id: HP:0030406
hpo_term: Primary peritoneal carcinoma
chpo_term: 原发性腹膜癌
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0002894
hpo_term: Neoplasm of the pancreas
chpo_term: 胰腺肿瘤
id: HP:0012125
hpo_term: Prostate cancer
chpo_term: 前列腺癌
Disease (ORPHA:147):
Carbamoyl-phosphate synthetase 1 deficiency
CPS1D
Carbamoyl-phosphate synthetase I deficiency
Carbamoyl-phosphate synthetase deficiency
CPS1 deficiency

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001951
hpo_term: Episodic ammonia intoxication
chpo_term: 阵发性氨中毒
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0005961
hpo_term: Hypoargininemia
chpo_term: 低精氨酸血症
Disease (ORPHA:33408):
Bullous lichen planus

Associated phenotypes (HPO):
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0100783
hpo_term: Breast aplasia
chpo_term: 乳房发育不全
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹