TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:301081):
AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED
Autoinflammatory disease, systemic, X-linked

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0012424
hpo_term: Chorioretinitis
chpo_term: 脉络膜视网膜炎
id: HP:0012121
hpo_term: Panuveitis
chpo_term: 全葡萄膜炎
id: HP:0012122
hpo_term: Anterior uveitis
chpo_term: 前葡萄膜炎
id: HP:0100653
hpo_term: Optic neuritis
chpo_term: 视神经炎
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0012490
hpo_term: Panniculitis
chpo_term: 脂膜炎
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0000698
hpo_term: Conical tooth
chpo_term: 锥状齿
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:263610):
POLYHYDRAMNIOS, CHRONIC IDIOPATHIC
Polyhydramnios, chronic idiopathic

Associated phenotypes (HPO):
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:231630):
MONOSODIUM GLUTAMATE SENSITIVITY
Glutamate monosodium sensitivity

Associated phenotypes (HPO):
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
Disease (OMIM:613100):
Glaucoma 1, open angle, O
GLAUCOMA 1, OPEN ANGLE, O

Associated phenotypes (HPO):
id: HP:0012108
hpo_term: Open angle glaucoma
chpo_term: 开角型青光眼
Disease (OMIM:615217):
Ataxia-Oculomotor apraxia 3
ATAXIA-OCULOMOTOR APRAXIA 3

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
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
Disease (OMIM:131850):
Epidermolysis bullosa dystrophica, pretibial
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL

Associated phenotypes (HPO):
id: HP:0012221
hpo_term: Pretibial blistering
chpo_term: 胫前起疱
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
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:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:618733):
Neuromuscular disease and ocular or auditory anomalies with or without seizures
NEUROMUSCULAR OCULOAUDITORY SYNDROME

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0007858
hpo_term: Chorioretinal lacunae
chpo_term: 脉络膜视网膜漏洞
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
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:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0007182
hpo_term: Peripheral hypomyelination
chpo_term: 外周神经髓鞘发育障碍
id: HP:0007165
hpo_term: Periventricular heterotopia
chpo_term: 脑室周围灰质异位
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002835
hpo_term: Aspiration
chpo_term: 误吸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0020206
hpo_term: Simple ear
chpo_term: 简平耳
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0005565
hpo_term: Reduced renal corticomedullary differentiation
chpo_term: 肾皮髓质分界模糊
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:0005562
hpo_term: Multiple renal cysts
chpo_term: 多发性肾囊肿
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0007078
hpo_term: Decreased amplitude of sensory action potentials
chpo_term: 感觉动作电位波幅降低
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0003713
hpo_term: Muscle fiber necrosis
chpo_term: 肌纤维坏死
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
Disease (OMIM:134900):
Fibrinolytic defect
FIBRINOLYTIC DEFECT

Associated phenotypes (HPO):
id: HP:0007420
hpo_term: Spontaneous hematomas
chpo_term: 自发性血肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
Disease (OMIM:619405):
Spinocerebellar ataxia, autosomal recessive 30
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30

Associated phenotypes (HPO):
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0030187
hpo_term: Titubation
chpo_term: 蹒跚
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
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:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000725
hpo_term: Psychotic episodes
chpo_term: 精神病发作
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:616736):
TREMOR, HEREDITARY ESSENTIAL, 5
Tremor, hereditary essential, 5

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0031947
hpo_term: Tongue tremor
chpo_term: 舌震颤
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
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:0030186
hpo_term: Kinetic tremor
chpo_term: 动作性震颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003831
hpo_term: Typified by age-related penetrance
chpo_term: 具有年龄相关的外显率特征
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:609616):
SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE CALCIFICATIONS, AND DEAFNESS
Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctatecalcifications, and deafness

Associated phenotypes (HPO):
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0003375
hpo_term: Narrow greater sciatic notch
chpo_term: 坐骨大切迹变窄
id: HP:0005011
hpo_term: Mesomelic arm shortening
chpo_term: 臂中段缩短
id: HP:0003173
hpo_term: Hypoplastic pubic bone
chpo_term: 耻骨发育不全
id: HP:0006370
hpo_term: Distal ulnar epiphyseal stippling
chpo_term: 尺骨远端骨骺点状钙化
id: HP:0010231
hpo_term: Enlarged epiphyses of the phalanges of the hand
chpo_term: 指骨骨骺膨大
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0006134
hpo_term: Enlarged metacarpal epiphyses
chpo_term: 掌骨骨骺膨大
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001837
hpo_term: Broad toe
chpo_term: 宽趾
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000887
hpo_term: Cupped ribs
chpo_term: 杯状肋骨端
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
Disease (OMIM:179800):
Renal tubular acidosis, distal, autosomal dominant
RENAL TUBULAR ACIDOSIS, DISTAL, 1

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0008341
hpo_term: Distal renal tubular acidosis
chpo_term: 远端肾小管性酸中毒
id: HP:0031033
hpo_term: Impaired urinary acidification
chpo_term: 尿酸化受损
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
Disease (OMIM:620284):
DEAFNESS, AUTOSOMAL DOMINANT 89
Deafness, autosomal dominant 89

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:147050):
IgE RESPONSIVENESS, ATOPIC
Ige responsiveness, atopic

Associated phenotypes (HPO):
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0003193
hpo_term: Allergic rhinitis
chpo_term: 过敏性鼻炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:606243):
Alveolar soft part sarcoma
ALVEOLAR SOFT PART SARCOMA

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0012218
hpo_term: Alveolar soft part sarcoma
chpo_term: 腺泡状软组织肉瘤
Disease (OMIM:619363):
ANGIOEDEMA, HEREDITARY, 6
Angioedema, hereditary, 6

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0031244
hpo_term: Swollen lip
chpo_term: 嘴唇肿大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0007514
hpo_term: Edema of the dorsum of hands
chpo_term: 手背水肿
Disease (OMIM:616050):
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
Autoinflammation with infantile enterocolitis

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004387
hpo_term: Enterocolitis
chpo_term: 小肠结肠炎
id: HP:0025420
hpo_term: Diffuse alveolar hemorrhage
chpo_term: 弥漫性肺泡出血
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0012177
hpo_term: Abnormal natural killer cell physiology
chpo_term: 自然杀伤细胞生理功能异常
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0005208
hpo_term: Secretory diarrhea
chpo_term: 分泌性腹泻
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
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:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
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:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
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
Disease (OMIM:604454):
Welander distal myopathy
WELANDER DISTAL MYOPATHY

Associated phenotypes (HPO):
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
Disease (OMIM:614653):
Neuropathy, hereditary sensory and autonomic, type VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI

Associated phenotypes (HPO):
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0012822
hpo_term: Bilateral vocal cord paresis
chpo_term: 双侧声带麻痹
id: HP:0003093
hpo_term: Limited hip extension
chpo_term: 髋关节伸展受限
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0033031
hpo_term: Hyperpyrexia
chpo_term: 体温过高
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0002835
hpo_term: Aspiration
chpo_term: 误吸
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0001188
hpo_term: Hand clenching
chpo_term: 攥拳手
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0034252
hpo_term: Absent corneal reflex
chpo_term: 角膜反射缺失
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
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:0007610
hpo_term: Blotching pigmentation of the skin
chpo_term: 皮肤色素沉着斑
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0000522
hpo_term: Alacrima
chpo_term: 无泪
Disease (OMIM:619377):
Osteootohepatoenteric syndrome
OSTEOOTOHEPATOENTERIC SYNDROME

Associated phenotypes (HPO):
id: HP:0033309
hpo_term: Ileoileal intussusception
chpo_term: 回盲肠肠套叠
id: HP:0002003
hpo_term: Large forehead
chpo_term: 大额头
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0012202
hpo_term: Increased serum bile acid concentration
chpo_term: 血清胆汁酸浓度增高
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0005208
hpo_term: Secretory diarrhea
chpo_term: 分泌性腹泻
id: HP:0410204
hpo_term: Increased intestinal transit time
chpo_term: 肠道转运时间增加
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012537
hpo_term: Food intolerance
chpo_term: 食物不耐受
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0033736
hpo_term: Grade II vesicoureteral reflux
chpo_term: II级膀胱输尿管反流
id: HP:0006580
hpo_term: Portal fibrosis
chpo_term: 汇管区纤维化
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001414
hpo_term: Microvesicular hepatic steatosis
chpo_term: 小泡性肝脂肪变性
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
Disease (OMIM:616044):
DEAFNESS, AUTOSOMAL DOMINANT 65
Deafness, autosomal dominant 65

Associated phenotypes (HPO):
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001730
hpo_term: Progressive hearing impairment
chpo_term: 渐进性听力损失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:616722):
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal dystrophy and iris coloboma with or without congenital cataract

Associated phenotypes (HPO):
id: HP:0011484
hpo_term: Posterior synechiae of the anterior chamber
chpo_term: 虹膜后粘连
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
Disease (OMIM:610353):
Epilepsy, nocturnal frontal lobe, 4
EPILEPSY, NOCTURNAL FRONTAL LOBE, 4

Associated phenotypes (HPO):
id: HP:0025144
hpo_term: Shivering
chpo_term: 颤抖
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0012759
hpo_term: Neurodevelopmental abnormality
chpo_term: 神经发育异常
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0031951
hpo_term: Nocturnal seizures
chpo_term: 夜间癫痫发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:187260):
TELANGIECTASIA, HEREDITARY BENIGN
Telangiectasia, hereditary benign

Associated phenotypes (HPO):
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0007489
hpo_term: Diffuse telangiectasia
chpo_term: 弥漫性毛细血管扩张
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614135):
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
Epiphyseal dysplasia, multiple, 6

Associated phenotypes (HPO):
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0005645
hpo_term: Intervertebral disk calcification
chpo_term: 椎间盘钙化
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003365
hpo_term: Arthralgia of the hip
chpo_term: 髋关节痛
id: HP:0006407
hpo_term: Irregular distal femoral epiphysis
chpo_term: 股骨远端骨骺不规则
id: HP:0003370
hpo_term: Flat capital femoral epiphysis
chpo_term: 股骨近端骨骺扁平
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0010582
hpo_term: Irregular epiphyses
chpo_term: 不规则骨骺
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0006398
hpo_term: Flat distal femoral epiphysis
chpo_term: 股骨远端骨骺扁平
id: HP:0030041
hpo_term: Schmorl's node
chpo_term: Schmorl's结节
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002654
hpo_term: Multiple epiphyseal dysplasia
chpo_term: 多发性骨骺发育不良