TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:143200):
WAGNER VITREORETINOPATHY
Wagner vitreoretinopathy

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0030663
hpo_term: Optically empty vitreous
chpo_term: 光空型玻璃体
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0007773
hpo_term: Vitreoretinopathy
chpo_term: 玻璃体视网膜病
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0007643
hpo_term: Peripheral tractional retinal detachment
chpo_term: 牵拉性周边视网膜脱离
id: HP:0030490
hpo_term: Exudative vitreoretinopathy
chpo_term: 渗出性玻璃体视网膜病变
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
Disease (OMIM:614671):
Chromosome 16p11.2 duplication syndrome
CHROMOSOME 16p11.2 DUPLICATION SYNDROME

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0001466
hpo_term: Contiguous gene syndrome
chpo_term: 邻近基因综合征
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:270100):
HETEROTAXY, VISCERAL, 5, AUTOSOMAL
Heterotaxy, visceral, 5

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001750
hpo_term: Single ventricle
chpo_term: 单心室
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0011699
hpo_term: Atrial reentry tachycardia
chpo_term: 心房折返性心动过速
id: HP:0011555
hpo_term: Double inlet left ventricle
chpo_term: 左室双入口
id: HP:0031565
hpo_term: Abdominal situs ambiguus
chpo_term: 内脏位置异常
id: HP:0010305
hpo_term: Absence of the sacrum
chpo_term: 骶骨缺如
id: HP:0031348
hpo_term: Dextrotransposition of the great arteries
chpo_term: 大动脉右转位
id: HP:0011536
hpo_term: Right atrial isomerism
chpo_term: 右心房异构
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0003363
hpo_term: Abdominal situs inversus
chpo_term: 腹部内脏逆位
id: HP:0003363
hpo_term: Abdominal situs inversus
chpo_term: 腹部内脏逆位
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0000071
hpo_term: Ureteral stenosis
chpo_term: 输尿管狭窄
id: HP:0010773
hpo_term: Partial anomalous pulmonary venous return
chpo_term: 部分肺静脉回流异常
id: HP:0005160
hpo_term: Total anomalous pulmonary venous return
chpo_term: 完全性肺静脉回流异常
id: HP:0011861
hpo_term: Bilateral trilobed lung
chpo_term: 双侧三叶肺
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
Disease (OMIM:614665):
MECONIUM ILEUS
Meconium ileus

Associated phenotypes (HPO):
id: HP:0004401
hpo_term: Meconium ileus
chpo_term: 胎粪性肠梗阻
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004388
hpo_term: Microcolon
chpo_term: 细小结肠
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0040128
hpo_term: Abnormal sweat electrolytes
chpo_term: 汗液电解质异常
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:609152):
HYPERTHYROIDISM, NONAUTOIMMUNE
Hyperthyroidism, nonautoimmune

Associated phenotypes (HPO):
id: HP:0025484
hpo_term: Increased circulating thyroglobulin level
chpo_term: 循环甲状腺球蛋白水平增高
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0031506
hpo_term: Increased circulating T4 concentration
chpo_term: 循环T4水平升高
id: HP:0025379
hpo_term: Anti-thyroid peroxidase antibody positivity
chpo_term: 抗甲状腺过氧化物酶抗体阳性
id: HP:0200028
hpo_term: Pretibial myxedema
chpo_term: 胫前粘液性水肿
id: HP:0011788
hpo_term: Increased circulating free T3
chpo_term: 血液游离T3升高
id: HP:0032069
hpo_term: Anti-thyroglobulin antibody positivity
chpo_term: 抗甲状腺球蛋白抗体阳性
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0031098
hpo_term: Decreased thyroid-stimulating hormone level
chpo_term: 促甲状腺激素水平降低
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0008249
hpo_term: Thyroid hyperplasia
chpo_term: 甲状腺增生
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
Disease (OMIM:151610):
Levator-Medial rectus synkinesis
OCULOMOTOR-LEVATOR SYNKINESIS

Associated phenotypes (HPO):
id: HP:0500043
hpo_term: Eyelid retraction
chpo_term: 眼睑挛缩
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
Disease (OMIM:274400):
Thyroid hormonogenesis, genetic defect in, 1
THYROID DYSHORMONOGENESIS 1

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:118210):
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1
Charcot-Marie-Tooth disease, axonal, type 2A1

Associated phenotypes (HPO):
id: HP:0003378
hpo_term: Axonal degeneration/regeneration
chpo_term: 轴索变性/再生
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:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
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:0003384
hpo_term: Peripheral axonal atrophy
chpo_term: 外围神经轴索萎缩
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0003380
hpo_term: Decreased number of peripheral myelinated nerve fibers
chpo_term: 周围有髓神经纤维数量减少
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
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:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
Disease (OMIM:609634):
MIGRAINE, FAMILIAL HEMIPLEGIC, 3
Migraine, familial hemiplegic, 3

Associated phenotypes (HPO):
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
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:0002077
hpo_term: Migraine with aura
chpo_term: 有先兆偏头痛
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0002183
hpo_term: Phonophobia
chpo_term: 声音恐惧
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:600176):
PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS
Pachygyria with mental retardation, seizures, and arachnoid cysts

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007069
hpo_term: Profound static encephalopathy
chpo_term: 严重的静息性脑病
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:614103):
Lipedema
LIPEDEMA

Associated phenotypes (HPO):
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0100695
hpo_term: Lipedema
chpo_term: 脂肪水肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:612572):
RETINITIS PIGMENTOSA 46
Retinitis pigmentosa 46

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
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:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
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:155310):
Visceral myopathy 1
VISCERAL MYOPATHY

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000021
hpo_term: Megacystis
chpo_term: 巨膀胱症
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0030996
hpo_term: Megaduodenum
chpo_term: 巨十二指肠
id: HP:0004389
hpo_term: Intestinal pseudo-obstruction
chpo_term: 假性肠梗阻
id: HP:0004388
hpo_term: Microcolon
chpo_term: 细小结肠
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:6000072
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0002578
hpo_term: Gastroparesis
chpo_term: 胃轻瘫
Disease (OMIM:239500):
HYPERPROLINEMIA, TYPE I
Hyperprolinemia, type I

Associated phenotypes (HPO):
id: HP:0003137
hpo_term: Prolinuria
chpo_term: 脯氨酸尿
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0003080
hpo_term: Hydroxyprolinuria
chpo_term: 羟脯氨酸尿症
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0008358
hpo_term: Hyperprolinemia
chpo_term: 高脯氨酸血症
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0003108
hpo_term: Hyperglycinuria
chpo_term: 高甘氨酸尿症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:614673):
Microcephaly 8, primary, autosomal recessive
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
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:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (OMIM:226350):
EOSINOPHILIC FASCIITIS
Eosinophilic fasciitis

Associated phenotypes (HPO):
id: HP:0045029
hpo_term: Eosinophilic fasciitis
chpo_term: 嗜酸细胞性筋膜炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:601518):
PROSTATE CANCER, HEREDITARY, 1
Prostate cancer, hereditary, 1

Associated phenotypes (HPO):
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0012125
hpo_term: Prostate cancer
chpo_term: 前列腺癌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618049):
PARKINSONISM-DYSTONIA, INFANTILE, 2
Parkinsonism-dystonia, infantile, 2

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:6000751
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:6000756
id: HP:0011977
hpo_term: Elevated urinary homovanillic acid
chpo_term: 尿高香草酸水平升高
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0005968
hpo_term: Temperature instability
chpo_term: 体温不稳定
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0010553
hpo_term: Oculogyric crisis
chpo_term: 动眼神经危象
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
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:0025403
hpo_term: Stooped posture
chpo_term: 弯腰姿势
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:193235):
VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY
Vitreoretinopathy, neovascular inflammatory

Associated phenotypes (HPO):
id: HP:0030667
hpo_term: Peripheral retinal neovascularization
chpo_term: 周边视网膜新生血管形成
id: HP:0007902
hpo_term: Vitreous hemorrhage
chpo_term: 玻璃体出血
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0007773
hpo_term: Vitreoretinopathy
chpo_term: 玻璃体视网膜病
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0007778
hpo_term: Posterior retinal neovascularization
chpo_term: 视网膜后新生血管形成
id: HP:0007658
hpo_term: Large hyperpigmented retinal spots
chpo_term: 视网膜上大色素沉着斑
Disease (OMIM:609622):
Short QT syndrome 3
SHORT QT SYNDROME 3

Associated phenotypes (HPO):
id: HP:0012232
hpo_term: Shortened QT interval
chpo_term: QT间期缩短
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0012663
hpo_term: Mildly reduced left ventricular ejection fraction
chpo_term: 左心室射血分数轻度降低
id: HP:0031972
hpo_term: Presyncope
chpo_term: 晕厥前状态
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619431):
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5

Associated phenotypes (HPO):
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0000021
hpo_term: Megacystis
chpo_term: 巨膀胱症
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0004388
hpo_term: Microcolon
chpo_term: 细小结肠
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:614115):
Cortical malformations, occipital
CORTICAL MALFORMATIONS, OCCIPITAL

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
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:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0032909
hpo_term: Focal impaired awareness automatism seizure
chpo_term: 局灶性意识损害的自动症发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
Disease (OMIM:614101):
PLASMA FIBRONECTIN DEFICIENCY
Plasma fibronectin deficiency

Associated phenotypes (HPO):
id: HP:0032463
hpo_term: Reduced circulating fibronectin level
chpo_term: 血液纤连蛋白水平降低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617408):
Diamond-Blackfan anemia 16
DIAMOND-BLACKFAN ANEMIA 16

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:166900):
OVALOCYTOSIS, SOUTHEAST ASIAN
Ovalocytosis, hereditary hemolytic

Associated phenotypes (HPO):
id: HP:0004445
hpo_term: Elliptocytosis
chpo_term: 椭圆形红细胞增多症
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:609636):
ALZHEIMER DISEASE 10
Alzheimer disease 10

Associated phenotypes (HPO):
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
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:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002511
hpo_term: Alzheimer disease
chpo_term: 阿尔茨海默病
Disease (OMIM:616716):
Rhizomelic chondrodysplasia punctata, type 5
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0010544
hpo_term: Vertical nystagmus
chpo_term: 垂直眼球震颤
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0006150
hpo_term: Swan neck-like deformities of the fingers
chpo_term: 手指天鹅颈样畸形
id: HP:0032660
hpo_term: Convulsive status epilepticus
chpo_term: 惊厥性癫痫持续状态
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003021
hpo_term: Metaphyseal cupping
chpo_term: 干骺端内陷
id: HP:0005781
hpo_term: Contractures of the large joints
chpo_term: 大关节挛缩
id: HP:0005041
hpo_term: Irregular capital femoral epiphysis
chpo_term: 股骨头骨骺不规则
id: HP:0011703
hpo_term: Sinus tachycardia
chpo_term: 窦性心动过速
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002868
hpo_term: Narrow iliac wing
chpo_term: 髂骨翼狭窄
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震