TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:255125):
Myopathy with exercise intolerance, Swedish type
MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY

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:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0008314
hpo_term: Decreased activity of mitochondrial complex II
chpo_term: 线粒体复合物II活性降低
id: HP:0001924
hpo_term: Sideroblastic anemia
chpo_term: 铁粒幼细胞性贫血
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0003548
hpo_term: Subsarcolemmal accumulations of abnormally shaped mitochondria
chpo_term: 肌膜下形态异常的线粒体沉积
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0011924
hpo_term: Decreased activity of mitochondrial complex III
chpo_term: 线粒体复合物III活性降低
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
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:0012240
hpo_term: Increased intramyocellular lipid droplets
chpo_term: 肌细胞内脂滴增加
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0008306
hpo_term: Abnormal iron deposition in mitochondria
chpo_term: 线粒体内铁沉积异常
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:610842):
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001102
hpo_term: Angioid streaks of the fundus
chpo_term: 眼底血管样条纹
id: HP:0011858
hpo_term: Reduced factor IX activity
chpo_term: 凝血因子IX活性减低
id: HP:0033027
hpo_term: Retinal peau d'orange
chpo_term: 视网膜橘皮样损害
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0008321
hpo_term: Reduced factor X activity
chpo_term: 凝血因子X活性减低
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0008169
hpo_term: Reduced factor VII activity
chpo_term: 凝血因子VII活性减低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0025507
hpo_term: Yellow papule
chpo_term: 黄色丘疹
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
id: HP:0000973
hpo_term: Cutis laxa
chpo_term: 皮肤松弛症
Disease (OMIM:611584):
WAARDENBURG SYNDROME, TYPE 2E
Waardenburg syndrome, type 2E

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0011379
hpo_term: Dilated vestibule of the inner ear
chpo_term: 内耳前庭扩大
id: HP:0011382
hpo_term: Hypoplasia of the semicircular canal
chpo_term: 半规管发育不全
id: HP:0011381
hpo_term: Aplasia of the semicircular canal
chpo_term: 半规管不发育
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002211
hpo_term: White forelock
chpo_term: 额发变白
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011376
hpo_term: Morphological abnormality of the vestibule of the inner ear
chpo_term: 内耳前庭的形态异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0007894
hpo_term: Hypopigmentation of the fundus
chpo_term: 眼底的色素沉着不足
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0002227
hpo_term: White eyelashes
chpo_term: 白睫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002226
hpo_term: White eyebrow
chpo_term: 白眉
Disease (OMIM:615084):
Mitochondrial DNA depletion syndrome 11
MITOCHONDRIAL DNA DEPLETION SYNDROME 11

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:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0003689
hpo_term: Multiple mitochondrial DNA deletions
chpo_term: 线粒体DNA多处缺失
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
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:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
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:0008443
hpo_term: Neuropathic spinal arthropathy
chpo_term: 神经性脊柱关节病
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:612933):
Glycogen storage disease XI
GLYCOGEN STORAGE DISEASE XI

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:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
Disease (OMIM:185800):
Symphalangism, proximal, 1A
SYMPHALANGISM, PROXIMAL, 1A

Associated phenotypes (HPO):
id: HP:0010194
hpo_term: Aplasia/Hypoplasia of the middle phalanges of the toes
chpo_term: 中节趾骨发育不全或发育不良
id: HP:0000381
hpo_term: Stapes ankylosis
chpo_term: 镫骨固定
id: HP:0006152
hpo_term: Proximal symphalangism of hands
chpo_term: 近端指间关节融合
id: HP:0005880
hpo_term: Metacarpophalangeal synostosis
chpo_term: 掌指关节骨性融合
id: HP:0009843
hpo_term: Aplasia/Hypoplasia of the middle phalanges of the hand
chpo_term: 中节指骨发育不良/发育不全
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001204
hpo_term: Distal symphalangism of hands
chpo_term: 远端指间关节融合
Disease (OMIM:200130):
Absent eyebrows and eyelashes with mental retardation
ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION

Associated phenotypes (HPO):
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0002478
hpo_term: Progressive spastic quadriplegia
chpo_term: 进行性痉挛性四肢瘫
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:173600):
Pneumothorax, primary spontaneous
PNEUMOTHORAX, PRIMARY SPONTANEOUS

Associated phenotypes (HPO):
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0002108
hpo_term: Spontaneous pneumothorax
chpo_term: 自发性气胸
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:415000):
SPERMATOGENIC FAILURE, Y-LINKED, 2
Spermatogenic failure, Y-linked, 2

Associated phenotypes (HPO):
id: HP:0001450
hpo_term: Y-linked inheritance
chpo_term: Y-连锁遗传
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
Disease (OMIM:309100):
Macular dystrophy, X-linked
MACULAR DYSTROPHY, X-LINKED

Associated phenotypes (HPO):
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0007754
hpo_term: Macular dystrophy
chpo_term: 黄斑营养不良
Disease (OMIM:617863):
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69
Intellectual developmental disorder, autosomal dominant 69

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:619696):
SPERMATOGENIC FAILURE 64
Spermatogenic failure 64

Associated phenotypes (HPO):
id: HP:0034011
hpo_term: Reduced progressive sperm motility
chpo_term: 精子前向运动减少
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0012865
hpo_term: Abnormal sperm head morphology
chpo_term: 精子头部形态异常
Disease (OMIM:125320):
Dementia/parkinsonism with non-alzheimer amyloid plaques
DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES

Associated phenotypes (HPO):
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0011960
hpo_term: Substantia nigra gliosis
chpo_term: 黑质神经胶质增生
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:189960):
Tracheoesophageal fistula with or without esophageal atresia
TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA

Associated phenotypes (HPO):
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
Disease (OMIM:209100):
ATONIC-ASTATIC SYNDROME OF FOERSTER
Atonic-Astatic syndrome of foerster

Associated phenotypes (HPO):
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0012651
hpo_term: Abasia
chpo_term: 行走不稳
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:515000):
CHLORAMPHENICOL TOXICITY
Chloramphenicol toxicity

Associated phenotypes (HPO):
id: HP:0001915
hpo_term: Aplastic anemia
chpo_term: 再生障碍性贫血
Disease (OMIM:617877):
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1

Associated phenotypes (HPO):
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0004763
hpo_term: Paroxysmal supraventricular tachycardia
chpo_term: 阵发性室上性心动过速
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0009102
hpo_term: Anterior open-bite malocclusion
chpo_term: 前牙开咬错位咬合畸形
id: HP:0011682
hpo_term: Perimembranous ventricular septal defect
chpo_term: 膜周型室间隔缺损
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
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: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:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100797
hpo_term: Toenail dysplasia
chpo_term: 趾甲发育不良
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000884
hpo_term: Prominent sternum
chpo_term: 胸骨突出
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
Disease (OMIM:608957):
Cd8 deficiency, familial
CD8 DEFICIENCY, FAMILIAL

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0005422
hpo_term: Absence of CD8-positive T cells
chpo_term: CD8 + T细胞缺乏
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
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:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
Disease (OMIM:240500):
IMMUNODEFICIENCY, COMMON VARIABLE, 2
Immunodeficiency, common variable, 2

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011839
hpo_term: Abnormal T cell count
chpo_term: T细胞数量异常
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0410301
hpo_term: Partial absence of specific antibody response to unconjugated pneumococcus vaccine
chpo_term: 对肺炎球菌疫苗特异性抗体应答降低
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0005387
hpo_term: Combined immunodeficiency
chpo_term: 联合免疫缺陷
id: HP:0011840
hpo_term: Abnormality of T cell physiology
chpo_term: T细胞生理功能异常
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0002729
hpo_term: Follicular hyperplasia
chpo_term: 淋巴滤泡增生
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
Disease (OMIM:143890):
HYPERCHOLESTEROLEMIA, FAMILIAL, 1
Hypercholesterolemia, familial, 1

Associated phenotypes (HPO):
id: HP:0001084
hpo_term: Corneal arcus
chpo_term: 角膜环
id: HP:0003141
hpo_term: Increased LDL cholesterol concentration
chpo_term: 高β-脂蛋白血症
id: HP:0010874
hpo_term: Tendon xanthomatosis
chpo_term: 腱黄瘤病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
Disease (OMIM:615127):
Epilepsy, familial adult myoclonic, 4
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
id: HP:0001340
hpo_term: Enhancement of the C-reflex
chpo_term: C-反射增强
id: HP:0001351
hpo_term: Jerk-locked premyoclonus spikes
chpo_term: 抽动锁时的肌阵挛前棘波
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0002392
hpo_term: EEG with polyspike wave complexes
chpo_term: 脑电图，伴多棘慢复合波
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:190410):
TRIGGER THUMB
Trigger thumb

Associated phenotypes (HPO):
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607523):
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8
Nail disorder, nonsyndromic congenital, 8

Associated phenotypes (HPO):
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
Disease (OMIM:617730):
Galloway-Mowat syndrome 4
GALLOWAY-MOWAT SYNDROME 4

Associated phenotypes (HPO):
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
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: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:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0100729
hpo_term: Large face
chpo_term: 大脸
id: HP:0008677
hpo_term: Congenital nephrotic syndrome
chpo_term: 先天性肾病综合征
id: HP:0001967
hpo_term: Diffuse mesangial sclerosis
chpo_term: 弥漫性肾小球系膜硬化
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
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:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
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:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回