TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:249270):
Thiamine-Responsive megaloblastic anemia syndrome
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Associated phenotypes (HPO):
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0004860
hpo_term: Thiamine-responsive megaloblastic anemia
chpo_term: 硫胺素反应性巨幼细胞性贫血
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001924
hpo_term: Sideroblastic anemia
chpo_term: 铁粒幼细胞性贫血
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:603830):
Long QT syndrome 3
LONG QT SYNDROME 3

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0005184
hpo_term: Prolonged QTc interval
chpo_term: QTc间期延长
id: HP:0011841
hpo_term: Ventricular flutter
chpo_term: 心室扑动
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001664
hpo_term: Torsade de pointes
chpo_term: 尖端扭转型室性心动过速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
Disease (OMIM:616583):
Spondyloepiphyseal dysplasia, Stanescu type
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE

Associated phenotypes (HPO):
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0025258
hpo_term: Stiff neck
chpo_term: 颈部僵硬
id: HP:0034372
hpo_term: Internal tibial torsion
chpo_term: 胫骨内旋
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0008422
hpo_term: Vertebral wedging
chpo_term: 椎体楔形变
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
id: HP:0002655
hpo_term: Spondyloepiphyseal dysplasia
chpo_term: 脊椎骨骺发育不良
Disease (OMIM:619868):
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10
Cholestasis, progressive familial intrahepatic, 10

Associated phenotypes (HPO):
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:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003573
hpo_term: Increased total bilirubin
chpo_term: 总胆红素增加
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0012202
hpo_term: Increased serum bile acid concentration
chpo_term: 血清胆汁酸浓度增高
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0011985
hpo_term: Acholic stools
chpo_term: 无胆色大便
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0006580
hpo_term: Portal fibrosis
chpo_term: 汇管区纤维化
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
Disease (OMIM:252650):
MUCOLIPIDOSIS IV
Mucolipidosis IV

Associated phenotypes (HPO):
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0004345
hpo_term: Ganglioside accumulation
chpo_term: 神经节苷脂代谢异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0011020
hpo_term: Abnormality of mucopolysaccharide metabolism
chpo_term: 粘多糖代谢异常
id: HP:0007281
hpo_term: Developmental stagnation
chpo_term: 发育停滞
id: HP:0007266
hpo_term: Cerebral dysmyelination
chpo_term: 脑髓鞘形成障碍
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0500167
hpo_term: Hypergastrinemia
chpo_term: 高胃泌素血症
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0032448
hpo_term: Achlorhydria
chpo_term: 胃酸缺乏症
id: HP:0001438
hpo_term: Abnormal abdomen morphology
chpo_term: 腹部形态结构异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
Disease (OMIM:601941):
Diabetes mellitus, insulin-dependent, 6
TYPE 1 DIABETES MELLITUS 6

Associated phenotypes (HPO):
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
Disease (OMIM:620757):
THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY
Thrombocytopenia 12 with or without myopathy

Associated phenotypes (HPO):
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0005513
hpo_term: Increased megakaryocyte count
chpo_term: 巨核细胞计数增加
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0034016
hpo_term: Anti-HLA antibody positivity
chpo_term: 抗HLA抗体阳性
id: HP:0011877
hpo_term: Increased mean platelet volume
chpo_term: 平均血小板体积增大
id: HP:4000170
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (OMIM:615934):
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
STING-associated vasculopathy, infantile-onset

Associated phenotypes (HPO):
id: HP:0033605
hpo_term: Pustular rash
chpo_term: 脓疱疹
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0033425
hpo_term: Periungual erythema
chpo_term: 甲周红斑
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0033505
hpo_term: Livedo reticularis
chpo_term: 网状青斑
id: HP:0033250
hpo_term: Nailfold capillary tortuosity
chpo_term: 甲襞毛细血管曲折
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0033434
hpo_term: Nasal septum perforation
chpo_term: 鼻中隔穿孔
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0032230
hpo_term: Cytoplasmic antineutrophil antibody positivity
chpo_term: 细胞质抗中性粒细胞抗体阳性
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0002729
hpo_term: Follicular hyperplasia
chpo_term: 淋巴滤泡增生
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0003613
hpo_term: Antiphospholipid antibody positivity
chpo_term: 抗磷脂抗体阳性
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0033280
hpo_term: Paratracheal lymphadenopathy
chpo_term: 气管旁淋巴结肿大
Disease (OMIM:612097):
DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS
Deafness, unilateral, with delayed endolymphatic hydrops

Associated phenotypes (HPO):
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0009900
hpo_term: Unilateral deafness
chpo_term: 单侧耳聋
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:161550):
Nasopharyngeal carcinoma
NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2

Associated phenotypes (HPO):
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
Disease (OMIM:608971):
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive

Associated phenotypes (HPO):
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0004430
hpo_term: Severe combined immunodeficiency
chpo_term: 重症联合免疫缺陷
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0005390
hpo_term: Recurrent opportunistic infections
chpo_term: 反复机会性感染
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008866
hpo_term: Failure to thrive secondary to recurrent infections
chpo_term: 反复感染导致发育迟缓
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:620025):
Diaphragmatic hernia 4, with cardiovascular defects
DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS

Associated phenotypes (HPO):
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0031834
hpo_term: Aortopulmonary collateral arteries
chpo_term: 主肺动脉的侧支动脉
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0004971
hpo_term: Pulmonary artery hypoplasia
chpo_term: 肺动脉发育不全
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0011604
hpo_term: Aortopulmonary window
chpo_term: 主肺动脉窗
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0009110
hpo_term: Diaphragmatic eventration
chpo_term: 膈肌缺陷
id: HP:0009112
hpo_term: Aplasia of the left hemidiaphragm
chpo_term: 左侧膈肌发育不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:614380):
Complement component 4A deficiency
COMPLEMENT COMPONENT 4A DEFICIENCY

Associated phenotypes (HPO):
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0025434
hpo_term: Reduced hemolytic complement activity
chpo_term: 溶血补体活性减弱
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0045042
hpo_term: Decreased serum complement C4
chpo_term: 血清补体C4减少
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
Disease (OMIM:615075):
Neurodevelopmental disorder with spastic diplegia and visual defects
NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033128
hpo_term: Delayed ability to crawl
chpo_term: 爬行能力延迟
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0001500
hpo_term: Broad finger
chpo_term: 宽指
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0030490
hpo_term: Exudative vitreoretinopathy
chpo_term: 渗出性玻璃体视网膜病变
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
Disease (OMIM:613404):
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
Arthrogryposis, renal dysfunction, and cholestasis 2

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0200084
hpo_term: Giant cell hepatitis
chpo_term: 巨细胞肝炎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001947
hpo_term: Renal tubular acidosis
chpo_term: 肾小管性酸中毒
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001884
hpo_term: Talipes calcaneovalgus
chpo_term: 跟骨畸形
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0009806
hpo_term: Nephrogenic diabetes insipidus
chpo_term: 肾性尿崩症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:617662):
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Joint laxity, short stature, and myopia

Associated phenotypes (HPO):
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0012095
hpo_term: Multiple joint dislocation
chpo_term: 多关节脱位
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0002947
hpo_term: Cervical kyphosis
chpo_term: 颈椎后凸畸形
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:619897):
CARDIOMYOPATHY, DILATED, 2G
Cardiomyopathy, dilated, 2G

Associated phenotypes (HPO):
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0031318
hpo_term: Myofiber disarray
chpo_term: 肌纤维无序
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0030149
hpo_term: Cardiogenic shock
chpo_term: 心源性休克
id: HP:0004751
hpo_term: Paroxysmal ventricular tachycardia
chpo_term: 阵发性室性心动过速
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0011701
hpo_term: Multifocal atrial tachycardia
chpo_term: 多灶性房性心动过速
id: HP:0031333
hpo_term: Myocardial sarcomeric disarray
chpo_term: 心脏肌节混乱
id: HP:0031676
hpo_term: Monomorphic ventricular tachycardia
chpo_term: 单形性室性心动过速
id: HP:0033008
hpo_term: Increased Z-disc width
chpo_term: Z线宽度增加
id: HP:0012666
hpo_term: Severely reduced left ventricular ejection fraction
chpo_term: 左心室射血分数严重降低
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0031295
hpo_term: Left atrial enlargement
chpo_term: 左心房增大
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:300843):
BORNHOLM EYE DISEASE
Bornholm eye disease

Associated phenotypes (HPO):
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0011522
hpo_term: Protanopia
chpo_term: 红色盲
id: HP:0011521
hpo_term: Deuteranopia
chpo_term: 绿色盲
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
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