TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:167600):
PALMARIS LONGUS MUSCLE, ABSENCE OF
Palmaris longus muscle, absence of

Associated phenotypes (HPO):
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620062):
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2
Developmental delay with short stature, dysmorphic facial features, and sparse hair 2

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0012413
hpo_term: Notched primary central incisor
chpo_term: 乳中切牙缺口
id: HP:0011623
hpo_term: Muscular ventricular septal defect
chpo_term: 肌部室间隔缺损
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:610189):
Senior-Loken syndrome 6
SENIOR-LOKEN SYNDROME 6

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0006817
hpo_term: Aplasia/Hypoplasia of the cerebellar vermis
chpo_term: 小脑蚓部发育缺陷/发育不全
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: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:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
Disease (OMIM:619813):
Neutropenia, severe congenital, 9, autosomal dominant
NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0410253
hpo_term: Myeloid maturation arrest
chpo_term: 髓系成熟阻滞
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
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:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
Disease (OMIM:612946):
HADZISELIMOVIC SYNDROME
Hadziselimovic syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0010806
hpo_term: U-Shaped upper lip vermilion
chpo_term: U型上红唇
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
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:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
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:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:191800):
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT
Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT

Associated phenotypes (HPO):
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0030211
hpo_term: Slow pupillary light response
chpo_term: 瞳孔对光反应缓慢
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0012624
hpo_term: Stage 2 chronic kidney disease
chpo_term: 慢性肾病2期
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:613480):
Lymphatic malformation 3
LYMPHATIC MALFORMATION 3

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617180):
CHITAYAT SYNDROME
Chitayat syndrome

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002780
hpo_term: Bronchomalacia
chpo_term: 支气管软化
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0010107
hpo_term: Short proximal phalanx of hallux
chpo_term: 拇趾近节指骨短
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0030367
hpo_term: Finger hyperphalangy
chpo_term: 多指节
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0032965
hpo_term: Interstitial emphysema
chpo_term: 间质性肺气肿
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0009110
hpo_term: Diaphragmatic eventration
chpo_term: 膈肌缺陷
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0009577
hpo_term: Short middle phalanx of the 2nd finger
chpo_term: 第二指中节短指骨
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0009536
hpo_term: Short 2nd finger
chpo_term: 第二指短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617194):
LETHAL CONGENITAL CONTRACTURE SYNDROME 11
Lethal congenital contracture syndrome 11

Associated phenotypes (HPO):
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0012785
hpo_term: Flexion contracture of finger
chpo_term: 手指屈曲挛缩
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
Disease (OMIM:218050):
CRAMPS, FAMILIAL ADOLESCENT
Cramps, familial adolescent

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:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:612952):
AICARDI-GOUTIERES SYNDROME 5
Aicardi-Goutieres syndrome 5

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0030356
hpo_term: Increased serum interferon-gamma level
chpo_term: 血清干扰素-γ水平增加
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007321
hpo_term: Deep white matter hypodensities
chpo_term: 深部脑白质低信号
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0007229
hpo_term: Intracerebral periventricular calcifications
chpo_term: 颅内脑室周围钙化
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0200149
hpo_term: CSF lymphocytic pleiocytosis
chpo_term: 脑脊液淋巴细胞增生症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003040
hpo_term: Arthropathy
chpo_term: 关节病
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009710
hpo_term: Chilblains
chpo_term: 冻疮
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (OMIM:613494):
IMMUNODEFICIENCY, COMMON VARIABLE, 4
Immunodeficiency, common variable, 4

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0410300
hpo_term: Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine
chpo_term: 对肺炎球菌疫苗完全或几乎全无特异性抗体应答
id: HP:0005387
hpo_term: Combined immunodeficiency
chpo_term: 联合免疫缺陷
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0011839
hpo_term: Abnormal T cell count
chpo_term: T细胞数量异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
Disease (OMIM:226800):
Epilepsy, photogenic, with spastic diplegia and mental retardation
EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION

Associated phenotypes (HPO):
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0007207
hpo_term: Photosensitive tonic-clonic seizure
chpo_term: 光敏性强直阵挛发作
Disease (OMIM:611283):
Isobutyryl-CoA dehydrogenase deficiency
ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0003234
hpo_term: Decreased plasma carnitine
chpo_term: 血浆肉碱降低
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:616507):
Osteogenesis imperfecta, type XVII
OSTEOGENESIS IMPERFECTA, TYPE XVII

Associated phenotypes (HPO):
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
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:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0006470
hpo_term: Thin long bone diaphyses
chpo_term: 长骨骨干纤细
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002953
hpo_term: Vertebral compression fracture
chpo_term: 椎体压缩性骨折
id: HP:0003865
hpo_term: Bowed humerus
chpo_term: 肱骨弯曲
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0030746
hpo_term: Intraventricular hemorrhage
chpo_term: 脑室内出血
id: HP:0006086
hpo_term: Thin metacarpal cortices
chpo_term: 掌骨皮质变薄
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000703
hpo_term: Dentinogenesis imperfecta
chpo_term: 牙本质发育不全
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
Disease (OMIM:229500):
Fructose and galactose intolerance
FRUCTOSE AND GALACTOSE INTOLERANCE

Associated phenotypes (HPO):
id: HP:0005973
hpo_term: Fructose intolerance
chpo_term: 果糖不耐受
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0004919
hpo_term: Galactose intolerance
chpo_term: 半乳糖不耐受
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
Disease (OMIM:613319):
Miyoshi muscular dystrophy 3
MIYOSHI MUSCULAR DYSTROPHY 3

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:0003731
hpo_term: Quadriceps muscle weakness
chpo_term: 股四头肌无力
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009050
hpo_term: Quadriceps muscle atrophy
chpo_term: 股四头肌肌肉萎缩
Disease (OMIM:615768):
Spinocerebellar ataxia, autosomal recessive 16
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:260100):
Pa polymorphism of alpha-2-globulin
PA POLYMORPHISM OF ALPHA-2-GLOBULIN

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010701
hpo_term: Abnormal immunoglobulin level
chpo_term: 免疫球蛋白水平异常
Disease (OMIM:606072):
Rippling muscle disease
RIPPLING MUSCLE DISEASE 2

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:0003760
hpo_term: Percussion-induced rapid rolling muscle contractions
chpo_term: 扣击引起的快速滚动的肌肉收缩（PIRC）
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0003719
hpo_term: Muscle mounding
chpo_term: 肌球
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003559
hpo_term: Muscle hyperirritability
chpo_term: 腱反射亢进
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0008967
hpo_term: Exercise-induced muscle stiffness
chpo_term: 运动诱发的肌肉僵硬
Disease (OMIM:601709):
Quebec platelet disorder
QUEBEC PLATELET DISORDER

Associated phenotypes (HPO):
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0008148
hpo_term: Impaired epinephrine-induced platelet aggregation
chpo_term: 肾上腺素诱导的血小板聚集障碍
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619146):
PREMATURE OVARIAN FAILURE 17
Premature ovarian failure 17

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0011969
hpo_term: Elevated circulating luteinizing hormone level
chpo_term: 血液黄体生成素水平升高
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0031100
hpo_term: Decreased inhibin B level
chpo_term: 抑制素B水平降低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0031103
hpo_term: Decreased antimullerian hormone level
chpo_term: 抗苗勒氏管激素水平降低
Disease (OMIM:614462):
Hyperglycinemia, lactic acidosis, and seizures
HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
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:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
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: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:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:6000829
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0002928
hpo_term: Decreased activity of the pyruvate dehydrogenase complex
chpo_term: 丙酮酸脱氢酶（PDH）复合物活性降低
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:153200):
Lymphedema, hereditary, II
LYMPHATIC MALFORMATION 5

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0003550
hpo_term: Predominantly lower limb lymphedema
chpo_term: 主要累及下肢的淋巴水肿
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0011367
hpo_term: Yellow nails
chpo_term: 黄指甲
id: HP:0003759
hpo_term: Hypoplasia of lymphatic vessels
chpo_term: 淋巴管发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:313850):
Thoracoabdominal syndrome
THORACOABDOMINAL SYNDROME

Associated phenotypes (HPO):
id: HP:0001683
hpo_term: Ectopia cordis
chpo_term: 心脏异位
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0002933
hpo_term: Ventral hernia
chpo_term: 腹疝
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如