TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2063):
Splenogonadal fusion-limb defects-micrognathia syndrome
SGFLD syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0002817
hpo_term: Abnormality of the upper limb
chpo_term: 上肢异常
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0100560
hpo_term: Upper limb asymmetry
chpo_term: 上肢不对称
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0006283
hpo_term: Multiple unerupted teeth
chpo_term: 多个未萌出牙
id: HP:0006333
hpo_term: Crowded maxillary incisors
chpo_term: 上颌切牙拥挤
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:2062):
Progressive non-infectious anterior vertebral fusion
Copenhagen syndrome
PAVF

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0005108
hpo_term: Abnormal intervertebral disk morphology
chpo_term: 椎间盘形态异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002011
hpo_term: Morphological central nervous system abnormality
chpo_term: 中枢神经系统的形态异常
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003363
hpo_term: Abdominal situs inversus
chpo_term: 腹部内脏逆位
id: HP:0005037
hpo_term: Proximal radio-ulnar synostosis
chpo_term: 近端桡尺骨性愈合
id: HP:0100777
hpo_term: Exostoses
chpo_term: 外生骨疣
Disease (ORPHA:284332):
Autosomal recessive spinocerebellar ataxia type 6
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
SCAR6

Associated phenotypes (HPO):
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
Disease (ORPHA:436245):
Retinal dystrophy-juvenile cataract-short stature syndrome
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0001118
hpo_term: Juvenile cataract
chpo_term: 青少年型白内障
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007675
hpo_term: Progressive night blindness
chpo_term: 渐进性夜盲症
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
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:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000699
hpo_term: Diastema
chpo_term: 牙间隙
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0007791
hpo_term: Patchy atrophy of the retinal pigment epithelium
chpo_term: 视网膜色素上皮斑状萎缩
id: HP:0007965
hpo_term: Undetectable visual evoked potentials
chpo_term: 视觉诱发电位无波形
id: HP:0009907
hpo_term: Attached earlobe
chpo_term: 附耳垂
id: HP:0010761
hpo_term: Broad columella
chpo_term: 宽鼻小柱
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
Disease (ORPHA:2069):
Gastrocutaneous syndrome

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001003
hpo_term: Multiple lentigines
chpo_term: 多发性雀斑样痣
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0004398
hpo_term: Peptic ulcer
chpo_term: 消化性溃疡
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
Disease (ORPHA:542323):
CAR T cell therapy-associated cytokine release syndrome
Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome
CAR T cell therapy-associated CRS

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0011112
hpo_term: Abnormality of serum cytokine level
chpo_term: 血清细胞因子水平异常
id: HP:0011117
hpo_term: Abnormality of interleukin secretion
chpo_term: 白介素分泌异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012649
hpo_term: Increased inflammatory response
chpo_term: 炎症反应增强
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0030356
hpo_term: Increased serum interferon-gamma level
chpo_term: 血清干扰素-γ水平增加
id: HP:0030783
hpo_term: Increased circulating interleukin 6 concentration
chpo_term: 循环白细胞介素6水平升高
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0011037
hpo_term: Decreased urine output
chpo_term: 少尿
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0012722
hpo_term: Heart block
chpo_term: 心脏传导阻滞
id: HP:0030005
hpo_term: Capillary leak
chpo_term: 毛细血管渗漏
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
Disease (ORPHA:2066):
GABA transaminase deficiency
Gamma-aminobutyric acid transaminase deficiency

Associated phenotypes (HPO):
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0007266
hpo_term: Cerebral dysmyelination
chpo_term: 脑髓鞘形成障碍
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0032531
hpo_term: Elevated CSF gamma-aminobutyric acid concentration
chpo_term: 脑脊液γ-氨基丁酸浓度升高
id: HP:0410053
hpo_term: Elevated circulating gamma-aminobutyric acid concentration
chpo_term: 循环γ-氨基丁酸水平升高
id: HP:0500253
hpo_term: Increased level of gamma-aminobutyric acid in urine
chpo_term: 尿液γ-氨基丁酸水平升高
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0007272
hpo_term: Progressive psychomotor deterioration
chpo_term: 进行性精神运动恶化
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0025430
hpo_term: High-pitched cry
chpo_term: 高调哭声
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
Disease (ORPHA:2065):
Microcephaly-hiatus hernia-nephrotic syndrome
Galloway-Mowat syndrome
Nephrosis-neuronal dysmigration syndrome
Galloway syndrome

Associated phenotypes (HPO):
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:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
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: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:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002410
hpo_term: Aqueductal stenosis
chpo_term: 中脑导水管狭窄
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0005108
hpo_term: Abnormal intervertebral disk morphology
chpo_term: 椎间盘形态异常
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
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
id: HP:0100720
hpo_term: Hypoplasia of the ear cartilage
chpo_term: 耳软骨发育不全
Disease (ORPHA:517):
AMMoL
AML M4
Acute myelomonocytic leukemia

Associated phenotypes (HPO):
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0000168
hpo_term: Abnormality of the gingiva
chpo_term: 牙龈异常
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
Disease (ORPHA:512):
Metachromatic leukodystrophy
MLD
Arylsulfatase A deficiency

Associated phenotypes (HPO):
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
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:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0009763
hpo_term: Limb pain
chpo_term: 肢体疼痛
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0030858
hpo_term: Addictive behavior
chpo_term: 成瘾行为
id: HP:0031064
hpo_term: Impaired continence
chpo_term: 失禁
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0002246
hpo_term: Abnormal duodenum morphology
chpo_term: 十二指肠形态异常
id: HP:0002576
hpo_term: Intussusception
chpo_term: 肠套叠
id: HP:0002577
hpo_term: Abnormal stomach morphology
chpo_term: 胃形态异常
id: HP:0012437
hpo_term: Abnormal gallbladder morphology
chpo_term: 胆囊形态异常
id: HP:0025013
hpo_term: Decerebrate rigidity
chpo_term: 去大脑僵直
id: HP:0100575
hpo_term: Neoplasm of the gallbladder
chpo_term: 胆囊新生物
id: HP:0100762
hpo_term: Hemobilia
chpo_term: 胆道出血
Disease (ORPHA:511):
Branched-chain ketoaciduria
Maple syrup urine disease
Branched-chain 2-ketoacid dehydrogenase deficiency
BCKD deficiency
MSUD
BCKDH deficiency

Associated phenotypes (HPO):
id: HP:0000600
hpo_term: Abnormality of the pharynx
chpo_term: 咽部异常
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0008344
hpo_term: Elevated plasma branched chain amino acids
chpo_term: 血浆支链氨基酸水平升高
Disease (ORPHA:521406):
Dystonia-parkinsonism-hypermanganesemia syndrome

Associated phenotypes (HPO):
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
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:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0012048
hpo_term: Oromandibular dystonia
chpo_term: 口下颌肌张力障碍
id: HP:0012407
hpo_term: Scissor gait
chpo_term: 剪刀步态
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0032097
hpo_term: Hypermanganesemia
chpo_term: 高锰血症
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
Disease (ORPHA:514):
AML M5
Acute monoblastic or monocytic leukemia
Acute monoblastic/monocytic leukemia

Associated phenotypes (HPO):
id: HP:0004845
hpo_term: Acute monocytic leukemia
chpo_term: 急性单核细胞白血病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031020
hpo_term: Bone marrow hypercellularity
chpo_term: 骨髓细胞过多
id: HP:0100827
hpo_term: Lymphocytosis
chpo_term: 淋巴细胞增多症
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
id: HP:0001785
hpo_term: Ankle swelling
chpo_term: 踝关节肿胀
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001931
hpo_term: Hypochromic anemia
chpo_term: 低色素性贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0011787
hpo_term: Central hypothyroidism
chpo_term: 中枢性甲状腺功能减退症
id: HP:0012145
hpo_term: Abnormality of multiple cell lineages in the bone marrow
chpo_term: 骨髓中多系细胞异常
id: HP:0025289
hpo_term: Cervical lymphadenopathy
chpo_term: 颈部淋巴结病变
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0100520
hpo_term: Oliguria
chpo_term: 少尿症
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
Disease (ORPHA:261102):
Distal trisomy 7q11.23
Distal dup(7)(q11.23)
Dup7q11.23D
Distal 7q11.23 microduplication syndrome

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0007330
hpo_term: Frontal encephalocele
chpo_term: 额叶脑膨出
id: HP:0100835
hpo_term: Benign neoplasm of the central nervous system
chpo_term: 中枢神经系统的良性肿瘤
Disease (ORPHA:402823):
Hepatitis delta
Hepatitis D virus
HDV

Associated phenotypes (HPO):
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
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:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0004787
hpo_term: Fulminant hepatitis
chpo_term: 暴发性肝炎
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0033834
hpo_term: Malaise
chpo_term: 全身乏力不适
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
Disease (ORPHA:2172):
Microcephaly-glomerulonephritis-marfanoid habitus syndrome

Associated phenotypes (HPO):
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病