TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:261211):
Del(16)(p11.2p12.2)
Monosomy 16p11.2p12.2
16p11.2p12.2 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
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:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0005285
hpo_term: Absent nasal bridge
chpo_term: 无鼻梁
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100033
hpo_term: Tics
chpo_term: 抽动症
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:1195):
Congenital atransferrinemia
Congenital hypotransferrinemia

Associated phenotypes (HPO):
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0001732
hpo_term: Abnormality of the pancreas
chpo_term: 胰腺异常
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
Disease (ORPHA:140905):
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Hyperlipidemia due to HTGL deficiency
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Hyperlipidemia due to HL deficiency
Hyperlipidemia due to hepatic lipase deficiency

Associated phenotypes (HPO):
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0012184
hpo_term: Increased HDL cholesterol concentration
chpo_term: 高α脂蛋白血症
id: HP:0001013
hpo_term: Eruptive xanthomas
chpo_term: 发疹性黄瘤
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0005181
hpo_term: Premature coronary artery atherosclerosis
chpo_term: 早发性冠心病
Disease (ORPHA:1194):
Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
TMEM70-related mitochondrial encephalo-cardio-myopathy
Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
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:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001641
hpo_term: Abnormal pulmonary valve morphology
chpo_term: 肺动脉瓣形态异常
id: HP:0001646
hpo_term: Abnormal aortic valve morphology
chpo_term: 主动脉瓣形态异常
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:1193):
Atkin-Flaitz syndrome
X-linked intellectual disability, Atkin type

Associated phenotypes (HPO):
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001593
hpo_term: Maxillary lateral incisor microdontia
chpo_term: 上颌侧切牙小牙畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
Disease (ORPHA:1192):
Feigenbaum-Bergeron-Richardson syndrome
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001327
hpo_term: Photosensitive myoclonic seizure
chpo_term: 光敏性肌阵挛发作
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0003287
hpo_term: Abnormality of mitochondrial metabolism
chpo_term: 线粒体代谢异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007201
hpo_term: Cerebral artery atherosclerosis
chpo_term: 脑动脉粥样硬化
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001633
hpo_term: Abnormal mitral valve morphology
chpo_term: 二尖瓣形态异常
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0100545
hpo_term: Arterial stenosis
chpo_term: 动脉狭窄
Disease (ORPHA:140908):
Brachydactyly type B2

Associated phenotypes (HPO):
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001817
hpo_term: Absent fingernail
chpo_term: 指甲缺损
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0001857
hpo_term: Short distal phalanx of toe
chpo_term: 末节跖骨短小
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0005831
hpo_term: Type B brachydactyly
chpo_term: B型短指（趾）
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
Disease (ORPHA:1190):
AOI
Atelosteogenesis type I
Giant cell chondrodysplasia
Spondylo-humero-femoral dysplasia
Atelosteogenesis type 1
AO1

Associated phenotypes (HPO):
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0004599
hpo_term: Absent or minimally ossified vertebral bodies
chpo_term: 椎体缺如或低骨化
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0009107
hpo_term: Abnormal ossification involving the femoral head and neck
chpo_term: 股骨颈和股骨头骨化异常
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001602
hpo_term: Laryngeal stenosis
chpo_term: 喉狭窄
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0004785
hpo_term: Malrotation of colon
chpo_term: 结肠旋转不良
id: HP:0004894
hpo_term: Laryngotracheal stenosis
chpo_term: 喉气管狭窄
id: HP:0005562
hpo_term: Multiple renal cysts
chpo_term: 多发性肾囊肿
id: HP:0007973
hpo_term: Retinal dysplasia
chpo_term: 视网膜发育不良
id: HP:0008857
hpo_term: Neonatal short-trunk short stature
chpo_term: 新生儿躯干短小
id: HP:0030992
hpo_term: Abnormal pancreatic duct morphology
chpo_term: 胰管形态学异常
Disease (ORPHA:276608):
NIPHS
Non-insulinoma pancreatogenous hypoglycemia syndrome

Associated phenotypes (HPO):
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:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
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: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:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0004324
hpo_term: Increased body weight
chpo_term: 体重增加
id: HP:0004510
hpo_term: Pancreatic islet-cell hyperplasia
chpo_term: 胰岛细胞增生
id: HP:0012051
hpo_term: Reactive hypoglycemia
chpo_term: 反应性低血糖
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:79093):
Angiodysgenetic necrotizing myelopathy
Subacute ascending necrotizing myelitis
Familial osteosclerosis with abnormalities of the nervous system and meninges
Foix-Alajouanine syndrome
Subacute angiohypertrophic myelomalacia
Subacute necrotizing myelitis

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0002196
hpo_term: Myelopathy
chpo_term: 脊髓病
id: HP:0004947
hpo_term: Arteriovenous fistula
chpo_term: 动静脉瘘
id: HP:0012703
hpo_term: Abnormal subarachnoid space morphology
chpo_term: 蛛网膜下腔形态异常
id: HP:0012721
hpo_term: Venous malformation
chpo_term: 静脉畸形
id: HP:0040272
hpo_term: Hyperintensity of MRI T2 signal of the spinal cord
chpo_term: 脊髓MRI T2呈高信号
id: HP:0100561
hpo_term: Spinal cord lesion
chpo_term: 脊髓病变
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0007199
hpo_term: Progressive spastic paraparesis
chpo_term: 进行性痉挛性轻瘫
id: HP:0012486
hpo_term: Myelitis
chpo_term: 脊髓炎
id: HP:0000009
hpo_term: Functional abnormality of the bladder
chpo_term: 膀胱功能异常
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003419
hpo_term: Low back pain
chpo_term: 下背部疼痛
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0012423
hpo_term: Colonic inertia
chpo_term: 结肠无力
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0030014
hpo_term: Female sexual dysfunction
chpo_term: 女性性功能障碍
id: HP:0040307
hpo_term: Male sexual dysfunction
chpo_term: 男性性功能障碍
id: HP:0002318
hpo_term: Cervical myelopathy
chpo_term: 脊髓型颈椎病
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
Disease (ORPHA:79094):
Grange occlusive arterial syndrome
Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome
Grange syndrome

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
id: HP:0100545
hpo_term: Arterial stenosis
chpo_term: 动脉狭窄
Disease (ORPHA:1198):
Colonic atresia

Associated phenotypes (HPO):
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001543
hpo_term: Gastroschisis
chpo_term: 腹裂
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0003363
hpo_term: Abdominal situs inversus
chpo_term: 腹部内脏逆位
id: HP:0004398
hpo_term: Peptic ulcer
chpo_term: 消化性溃疡
id: HP:0010448
hpo_term: Colonic atresia
chpo_term: 结肠闭锁
id: HP:0100016
hpo_term: Abnormality of mesentery morphology
chpo_term: 肠系膜形态异常
id: HP:0100867
hpo_term: Duodenal stenosis
chpo_term: 十二指肠狭窄
Disease (ORPHA:79095):
Congenital bile acid synthesis defect type 4
BASD4
2-methylacyl-CoA racemase deficiency
Alpha-methyl-acyl-CoA racemase deficiency
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
AMACR deficiency

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0011892
hpo_term: Low levels of vitamin K
chpo_term: 维生素K缺乏症
id: HP:0030516
hpo_term: Homonymous hemianopia
chpo_term: 同侧偏盲
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0200084
hpo_term: Giant cell hepatitis
chpo_term: 巨细胞肝炎
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002401
hpo_term: Stroke-like episode
chpo_term: 卒中样发作
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
Disease (ORPHA:79096):
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-phosphate oxidase deficiency
Pyridoxamine 5'-oxidase deficiency
Pyridoxal phosphate-responsive seizures
Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
PNPO deficiency

Associated phenotypes (HPO):
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001560
hpo_term: Abnormality of the amniotic fluid
chpo_term: 羊水异常
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0003785
hpo_term: Decreased CSF homovanillic acid concentration
chpo_term: 脑脊液高香草酸水平降低
id: HP:0005961
hpo_term: Hypoargininemia
chpo_term: 低精氨酸血症
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0025430
hpo_term: High-pitched cry
chpo_term: 高调哭声
id: HP:0030917
hpo_term: Low APGAR score
chpo_term: 低APGAR评分
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0005522
hpo_term: Pyridoxine-responsive sideroblastic anemia
chpo_term: 吡哆醇反应性铁粒幼细胞性贫血
id: HP:0010895
hpo_term: Abnormal circulating glycine concentration
chpo_term: 甘氨酸代谢异常
id: HP:0010900
hpo_term: Abnormal circulating threonine concentration
chpo_term: 苏氨酸代谢异常
id: HP:0010904
hpo_term: Abnormal circulating histidine concentration
chpo_term: 组氨酸族氨基酸代谢异常
id: HP:0010909
hpo_term: Abnormal circulating arginine concentration
chpo_term: 精氨酸代谢异常
id: HP:0010917
hpo_term: Abnormal circulating tyrosine concentration
chpo_term: 酪氨酸代谢异常
Disease (ORPHA:79097):
Folinic acid-responsive seizures

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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012446
hpo_term: Decreased CSF 5-methyltetrahydrofolate concentration
chpo_term: 脑脊液5-甲基四氢叶酸降低
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0010845
hpo_term: EEG with generalized slow activity
chpo_term: 脑电图，广泛性慢活动
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0040204
hpo_term: Elevated CSF neopterin level
chpo_term: 脑脊液新喋呤水平升高
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0006892
hpo_term: Frontotemporal cerebral atrophy
chpo_term: 额颞叶萎缩
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0020221
hpo_term: Clonic seizure
chpo_term: 阵挛性癫痫发作
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常