TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:614180):
Retinitis pigmentosa 61
RETINITIS PIGMENTOSA 61

Associated phenotypes (HPO):
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0007688
hpo_term: Undetectable light- and dark-adapted electroretinogram
chpo_term: 无法检测的明暗适应视网膜电图
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
Disease (OMIM:613837):
Leber congenital amaurosis 11
LEBER CONGENITAL AMAUROSIS 11

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618792):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84
Epileptic encephalopathy, early infantile, 84

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:160300):
Myopathy, distal, infantile-onset
MYOPATHY, DISTAL, INFANTILE-ONSET

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:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0009025
hpo_term: Increased connective tissue
chpo_term: 结缔组织增多
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:241410):
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
Hypoparathyroidism-retardation-dysmorphism syndrome

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0008198
hpo_term: Congenital hypoparathyroidism
chpo_term: 先天性甲状旁腺功能减退症
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002199
hpo_term: Hypocalcemic seizures
chpo_term: 低钙发作
id: HP:0005686
hpo_term: Patchy osteosclerosis
chpo_term: 斑片性骨硬化
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0031817
hpo_term: Decreased circulating parathyroid hormone level
chpo_term: 甲状旁腺激素水平降低
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0001281
hpo_term: Tetany
chpo_term: 手足抽搐
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0008846
hpo_term: Severe intrauterine growth retardation
chpo_term: 严重的胎儿宫内发育迟缓
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:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:614816):
LOEYS-DIETZ SYNDROME 4
Loeys-Dietz syndrome 4

Associated phenotypes (HPO):
id: HP:0005116
hpo_term: Arterial tortuosity
chpo_term: 动脉迂曲
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0003179
hpo_term: Protrusio acetabuli
chpo_term: 髋臼内陷
id: HP:0010809
hpo_term: Broad uvula
chpo_term: 宽悬雍垂
id: HP:0025643
hpo_term: Tarlov cyst
chpo_term: 塔洛夫囊肿
id: HP:0410151
hpo_term: Eosinophilic infiltration of the esophagus
chpo_term: 食道嗜酸性粒细胞浸润
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0004419
hpo_term: Recurrent thrombophlebitis
chpo_term: 复发性血栓性静脉炎
id: HP:0007720
hpo_term: Flat cornea
chpo_term: 扁平角膜
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0003302
hpo_term: Spondylolisthesis
chpo_term: 脊椎滑脱症
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0012532
hpo_term: Chronic pain
chpo_term: 慢性疼痛
id: HP:0100775
hpo_term: Dural ectasia
chpo_term: 硬膜扩张
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002647
hpo_term: Aortic dissection
chpo_term: 主动脉夹层
id: HP:0006687
hpo_term: Aortic tortuosity
chpo_term: 主动脉迂曲
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
Disease (OMIM:301020):
Mitochondrial complex I deficiency, nuclear type 12
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
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:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:257500):
OBESITY-HYPOVENTILATION SYNDROME
Obesity-Hypoventilation syndrome

Associated phenotypes (HPO):
id: HP:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:159595):
MYELOPROLIFERATIVE SYNDROME, TRANSIENT
Myeloproliferative syndrome, transient

Associated phenotypes (HPO):
id: HP:0005534
hpo_term: Transient myeloproliferative syndrome
chpo_term: 一过性骨髓增生综合征
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
Disease (OMIM:618786):
IMAGAWA-MATSUMOTO SYNDROME
Imagawa-Matsumoto syndrome

Associated phenotypes (HPO):
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012811
hpo_term: Wide nasal ridge
chpo_term: 宽鼻嵴
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0003517
hpo_term: Birth length greater than 97th percentile
chpo_term: 出生身长大于97百分位数
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
Disease (OMIM:620796):
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
Proteasome-associated autoinflammatory syndrome 6

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:6000374
id: HP:0030356
hpo_term: Increased serum interferon-gamma level
chpo_term: 血清干扰素-γ水平增加
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0410174
hpo_term: Increased circulating troponin T concentration
chpo_term: 循环肌钙蛋白T浓度升高
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:6000239
id: HP:0031545
hpo_term: Abnormally low T cell receptor excision circle level
chpo_term: T细胞受体重排删除环水平减低
id: HP:0033106
hpo_term: Elevated circulating D-dimer concentration
chpo_term: 循环 D-二聚体浓度增高
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0033199
hpo_term: Increased circulating interleukin 10 concentration
chpo_term: 循环白细胞介素10水平升高
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
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:0030149
hpo_term: Cardiogenic shock
chpo_term: 心源性休克
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
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:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0034447
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0033833
hpo_term: Elevated circulating soluble CD25 concentration
chpo_term: 循环可溶性CD25浓度升高
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0033438
hpo_term: Elevated circulating myoglobin concentration
chpo_term: 循环肌红蛋白浓度升高
id: HP:0500271
hpo_term: Decreased proportion of gamma-delta T cells
chpo_term: γ-δT细胞比例减低
id: HP:0011171
hpo_term: Simple febrile seizure
chpo_term: 单纯型热性惊厥
id: HP:0031185
hpo_term: Increased circulating NT-proBNP concentration
chpo_term: NT-proBNP水平增高
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
Disease (OMIM:183500):
Split-Hand and split-foot with hypodontia
SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA

Associated phenotypes (HPO):
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:610655):
Telangiectasia, hereditary hemorrhagic, type 4
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4

Associated phenotypes (HPO):
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0006548
hpo_term: Pulmonary arteriovenous malformation
chpo_term: 肺动静脉畸形
id: HP:0001694
hpo_term: Right-to-left shunt
chpo_term: 右向左分流
id: HP:0002642
hpo_term: Arteriovenous fistulas of celiac and mesenteric vessels
chpo_term: 腹腔及肠系膜血管动静脉瘘
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0011934
hpo_term: Dilatation of mesenteric artery
chpo_term: 肠系膜动脉扩张
id: HP:0002390
hpo_term: Spinal arteriovenous malformation
chpo_term: 脊髓动静脉畸形
id: HP:0100858
hpo_term: Dilatation of celiac artery
chpo_term: 腹腔动脉扩张
id: HP:0002707
hpo_term: Palate telangiectasia
chpo_term: 腭毛细血管扩张
id: HP:0002408
hpo_term: Cerebral arteriovenous malformation
chpo_term: 脑动静脉畸形
id: HP:0000524
hpo_term: Conjunctival telangiectasia
chpo_term: 结膜毛细血管扩张
id: HP:0000227
hpo_term: Tongue telangiectasia
chpo_term: 舌毛细血管扩张
id: HP:0002626
hpo_term: Venous varicosities of celiac and mesenteric vessels
chpo_term: 腹腔和肠系膜血管静脉曲张
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001722
hpo_term: High-output congestive heart failure
chpo_term: 高输出充血性心力衰竭
id: HP:0000214
hpo_term: Lip telangiectasia
chpo_term: 唇部毛细血管扩张
id: HP:0000434
hpo_term: Nasal mucosa telangiectasia
chpo_term: 鼻粘膜毛细血管扩张
id: HP:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
Disease (OMIM:107600):
APLASIA CUTIS CONGENITA, NONSYNDROMIC
Aplasia cutis congenita, nonsyndromic

Associated phenotypes (HPO):
id: HP:0004471
hpo_term: Aplasia cutis congenita over the scalp vertex
chpo_term: 先天性头顶部表皮发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:609304):
Epileptic encephalopathy, early infantile, 3
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3

Associated phenotypes (HPO):
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
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:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0011421
hpo_term: Death in adolescence
chpo_term: 青春期死亡
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:616224):
Myasthenic syndrome, congenital, 22
MYASTHENIC SYNDROME, CONGENITAL, 22

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003131
hpo_term: Cystinuria
chpo_term: 胱氨酸尿症
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0030208
hpo_term: Anti-acetylcholine receptor antibody positivity
chpo_term: 抗乙酰胆碱受体抗体阳性
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
Disease (OMIM:614433):
ATRIAL SEPTAL DEFECT 8
Atrial septal defect 8

Associated phenotypes (HPO):
id: HP:0010772
hpo_term: Anomalous pulmonary venous return
chpo_term: 肺静脉回流异常
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:603629):
DEAFNESS, AUTOSOMAL RECESSIVE 21
Deafness, autosomal recessive 21

Associated phenotypes (HPO):
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
Disease (OMIM:187000):
Teeth, odd shapes oflobodontia, included
TEETH, ODD SHAPES OF

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:605258):
Immunodeficiency with hyper-igm, type 2
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2

Associated phenotypes (HPO):
id: HP:0004798
hpo_term: Recurrent infection of the gastrointestinal tract
chpo_term: 胃肠道复发性感染
id: HP:0200117
hpo_term: Recurrent upper and lower respiratory tract infections
chpo_term: 上下呼吸道反复感染
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0410295
hpo_term: Complete or near-complete absence of specific antibody response to tetanus vaccine
chpo_term: 对破伤风疫苗完全或几乎全无特异性抗体应答
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002959
hpo_term: Impaired Ig class switch recombination
chpo_term: 免疫球蛋白类别转换重组障碍
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
Disease (OMIM:103300):
HYPOGLOSSIA-HYPODACTYLIA

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0009776
hpo_term: Adactyly
chpo_term: 先天性无指
id: HP:0012730
hpo_term: Aglossia
chpo_term: 无舌畸形
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌