TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:618811):
Mitochondrial DNA depletion syndrome 18
MITOCHONDRIAL DNA DEPLETION SYNDROME 18

Associated phenotypes (HPO):
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:6000335
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0009130
hpo_term: Hand muscle atrophy
chpo_term: 手部肌肉萎缩
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0032341
hpo_term: Reduced forced vital capacity
chpo_term: 用力肺活量降低
id: HP:0040078
hpo_term: Axonal degeneration
chpo_term: 轴索变性
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003648
hpo_term: Lacticaciduria
chpo_term: 乳酸血症
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
Disease (OMIM:620356):
Ciliary dyskinesia, primary, 50
CILIARY DYSKINESIA, PRIMARY, 50

Associated phenotypes (HPO):
id: HP:0034011
hpo_term: Reduced progressive sperm motility
chpo_term: 精子前向运动减少
id: HP:0032560
hpo_term: Coiled sperm flagella
chpo_term: 精子鞭毛卷曲
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0012257
hpo_term: Absent inner dynein arms
chpo_term: 内在动力蛋白臂缺失
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
id: HP:0032559
hpo_term: Short sperm flagella
chpo_term: 精子鞭毛短
Disease (OMIM:618839):
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42
Combined oxidative phosphorylation deficiency 42

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:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
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:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
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
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
Disease (OMIM:616814):
Preimplantation embryonic lethality 1
PREIMPLANTATION EMBRYONIC LETHALITY 1

Associated phenotypes (HPO):
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:203750):
Alpha-methylacetoacetic aciduria
ALPHA-METHYLACETOACETIC ACIDURIA

Associated phenotypes (HPO):
id: HP:0005974
hpo_term: Episodic ketoacidosis
chpo_term: 阵发性酸中毒
id: HP:4000204
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
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:6000603
Disease (OMIM:618187):
OVARIAN DYSGENESIS 8
Ovarian dysgenesis 8

Associated phenotypes (HPO):
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
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:0003782
hpo_term: Eunuchoid habitus
chpo_term: 类无睾者习性
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: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
id: HP:0000059
hpo_term: Hypoplastic labia majora
chpo_term: 大阴唇发育不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:608394):
DEAFNESS, AUTOSOMAL DOMINANT 43
Deafness, autosomal dominant 43

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:253601):
Muscular dystrophy, limb-girdle, type 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003555
hpo_term: Muscle fiber splitting
chpo_term: 肌纤维分裂
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0009025
hpo_term: Increased connective tissue
chpo_term: 结缔组织增多
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
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:500002):
MITOCHONDRIAL MYOPATHY WITH DIABETES
Mitochondrial myopathy with diabetes

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
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:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0012507
hpo_term: Weakness of orbicularis oculi muscle
chpo_term: 眼轮匝肌无力
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
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:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001427
hpo_term: Mitochondrial inheritance
chpo_term: 线粒体遗传
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:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0003688
hpo_term: Cytochrome C oxidase-negative muscle fibers
chpo_term: 细胞色素C氧化酶阴性肌肉纤维
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
Disease (OMIM:611809):
Bestrophinopathy, autosomal recessive
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0012045
hpo_term: Retinal flecks
chpo_term: 视网膜斑点
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
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:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0000654
hpo_term: Decreased light- and dark-adapted electroretinogram amplitude
chpo_term: 光和暗适应视网膜电图振幅降低
Disease (OMIM:618193):
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2

Associated phenotypes (HPO):
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0002476
hpo_term: Primitive reflex
chpo_term: 原始反射
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002340
hpo_term: Caudate atrophy
chpo_term: 尾状核萎缩
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0010524
hpo_term: Agnosia
chpo_term: 失认
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0012690
hpo_term: T2 hypointense thalamus
chpo_term: 丘脑T2序列低信号
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000734
hpo_term: Disinhibition
chpo_term: 脱抑制
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:608380):
Retinitis pigmentosa 26
RETINITIS PIGMENTOSA 26

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
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:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
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:147800):
AASE-SMITH SYNDROME I
Aase-Smith syndrome I

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0006742
hpo_term: Congenital neuroblastoma
chpo_term: 先天性神经母细胞瘤
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
Disease (OMIM:602875):
Acromesomelic dysplasia, Maroteaux type
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

Associated phenotypes (HPO):
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0007516
hpo_term: Redundant skin on fingers
chpo_term: 手指赘肉
id: HP:0006009
hpo_term: Broad phalanx
chpo_term: 指（趾）骨增宽
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001230
hpo_term: Broad metacarpals
chpo_term: 掌骨变宽
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0001847
hpo_term: Long hallux
chpo_term: 长拇趾
id: HP:0001500
hpo_term: Broad finger
chpo_term: 宽指
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004633
hpo_term: Lower thoracic kyphosis
chpo_term: 下胸椎后凸
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0001783
hpo_term: Broad metatarsal
chpo_term: 跖骨变宽
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0003086
hpo_term: Acromesomelia
chpo_term: 肢端发育不良
id: HP:0008484
hpo_term: Thoracolumbar interpediculate narrowness
chpo_term: 胸腰椎弓根间隙狭窄
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005619
hpo_term: Thoracolumbar kyphosis
chpo_term: 胸腰部脊柱后凸
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
Disease (OMIM:613978):
Hemoglobin H disease
HEMOGLOBIN H DISEASE

Associated phenotypes (HPO):
id: HP:0011907
hpo_term: Reduced alpha/beta synthesis ratio
chpo_term: α/β合成比减低
id: HP:0011903
hpo_term: HbH hemoglobin
chpo_term: 血红蛋白H
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:231090):
HYDATIDIFORM MOLE, RECURRENT, 1
Hydatidiform mole, recurrent, 1

Associated phenotypes (HPO):
id: HP:0032192
hpo_term: Hydatidiform mole
chpo_term: 葡萄胎
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
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:0032468
hpo_term: History of stillbirth
chpo_term: 死产史
Disease (OMIM:105400):
Amyotrophic lateral sclerosis 1
AMYOTROPHIC LATERAL SCLEROSIS 1

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002398
hpo_term: Degeneration of anterior horn cells
chpo_term: 前角细胞变性
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0007024
hpo_term: Pseudobulbar paralysis
chpo_term: 假性球麻痹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002314
hpo_term: Degeneration of the lateral corticospinal tracts
chpo_term: 皮质脊髓侧束变性
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:172850):
Piebald trait with neurologic defects
PIEBALD TRAIT WITH NEUROLOGIC DEFECTS

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002211
hpo_term: White forelock
chpo_term: 额发变白
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0007542
hpo_term: Absent pigmentation of the ventral chest
chpo_term: 前胸部色素缺失
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:148500):
TYLOSIS WITH ESOPHAGEAL CANCER
Tylosis with esophageal cancer

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0007447
hpo_term: Diffuse palmoplantar hyperkeratosis
chpo_term: 弥漫性掌跖角化过度
id: HP:0002745
hpo_term: Oral leukoplakia
chpo_term: 口腔白斑
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0011459
hpo_term: Esophageal carcinoma
chpo_term: 食管癌
Disease (OMIM:619500):
DEAFNESS, AUTOSOMAL DOMINANT 81
Deafness, autosomal dominant 81

Associated phenotypes (HPO):
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:606346):
Deafness, autosomal dominant 22
DEAFNESS, AUTOSOMAL DOMINANT 22

Associated phenotypes (HPO):
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:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:185200):
Striae distensae, familial
STRIAE DISTENSAE, FAMILIAL

Associated phenotypes (HPO):
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616155):
Charcot-Marie-Tooth disease, axonal, type 2S
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
id: HP:0012046
hpo_term: Areflexia of upper limbs
chpo_term: 上肢反射消失
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0040078
hpo_term: Axonal degeneration
chpo_term: 轴索变性
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
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:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
Disease (OMIM:618178):
NEPHROTIC SYNDROME, TYPE 19
Nephrotic syndrome, type 19

Associated phenotypes (HPO):
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:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012625
hpo_term: Stage 3 chronic kidney disease
chpo_term: 慢性肾病3期
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0012588
hpo_term: Steroid-resistant nephrotic syndrome
chpo_term: 激素耐受性肾病综合征
Disease (OMIM:277990):
Intellectual disability, Wolff type
WOLFF MENTAL RETARDATION SYNDROME

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:614742):
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1

Associated phenotypes (HPO):
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0031950
hpo_term: Usual interstitial pneumonia
chpo_term: 寻常性间质性肺炎
id: HP:0012324
hpo_term: Myeloid leukemia
chpo_term: 髓系白血病
id: HP:0031413
hpo_term: Short telomere length
chpo_term: 端粒缩短
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0025390
hpo_term: Reticular pattern on pulmonary HRCT
chpo_term: 肺部HRCT可见网状结构
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0001915
hpo_term: Aplastic anemia
chpo_term: 再生障碍性贫血
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
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:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
Disease (OMIM:602134):
TREMOR, HEREDITARY ESSENTIAL, 2
Tremor, hereditary essential, 2

Associated phenotypes (HPO):
id: HP:0007351
hpo_term: Upper limb postural tremor
chpo_term: 上肢姿势性震颤
id: HP:0030186
hpo_term: Kinetic tremor
chpo_term: 动作性震颤
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619272):
Mitochondrial complex I deficiency, nuclear type 37
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
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:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0032989
hpo_term: Delayed ability to roll over
chpo_term: 翻身能力延迟
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
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:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
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:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
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:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0002401
hpo_term: Stroke-like episode
chpo_term: 卒中样发作