TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:606777):
GLUT1 DEFICIENCY SYNDROME 1
GLUT1 deficiency syndrome 1, infantile onset, severe

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002268
hpo_term: Paroxysmal dystonia
chpo_term: 阵发性肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0011972
hpo_term: Hypoglycorrhachia
chpo_term: 脑脊液糖减低
id: HP:0011973
hpo_term: Paroxysmal lethargy
chpo_term: 阵发性嗜睡
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0007704
hpo_term: Paroxysmal involuntary eye movements
chpo_term: 阵发性不自主眼球运动
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
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:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:616570):
CEREBROOCULOFACIOSKELETAL SYNDROME 3
Cerebrooculofacioskeletal syndrome 3

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0007291
hpo_term: Posterior fossa cyst
chpo_term: 后颅窝囊肿
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:619643):
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11
Oocyte maturation defect 11

Associated phenotypes (HPO):
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
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
Disease (OMIM:608996):
PREMATURE OVARIAN FAILURE 3
Premature ovarian failure 3

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:606763):
Ciliary dyskinesia, primary, 2
CILIARY DYSKINESIA, PRIMARY, 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
id: HP:0012259
hpo_term: Absent inner and outer dynein arms
chpo_term: 内、外动力蛋白臂缺如
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0012263
hpo_term: Immotile cilia
chpo_term: 不动纤毛
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
Disease (OMIM:612716):
DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0008297
hpo_term: Transient hyperphenylalaninemia
chpo_term: 短暂性高苯丙氨酸血症
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0040210
hpo_term: Abnormal circulating biopterin concentration
chpo_term: 生物喋呤水平异常
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
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:6000563
id: HP:0010553
hpo_term: Oculogyric crisis
chpo_term: 动眼神经危象
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004923
hpo_term: Hyperphenylalaninemia
chpo_term: 高苯丙氨酸血症
id: HP:0040206
hpo_term: Abnormal circulating neopterin concentration
chpo_term: 新喋呤水平异常
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:191650):
URETEROCELE

Associated phenotypes (HPO):
id: HP:0000070
hpo_term: Ureterocele
chpo_term: 输尿管囊肿
id: HP:0000081
hpo_term: Duplicated collecting system
chpo_term: 集合管系统重复
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:162900):
Epidermal nevus, somatic
NEVUS, EPIDERMAL

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0001054
hpo_term: Numerous nevi
chpo_term: 多发性色素痣
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
Disease (OMIM:616216):
THROMBOCYTOPENIA 5
Thrombocytopenia 5

Associated phenotypes (HPO):
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
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:0004812
hpo_term: B Acute Lymphoblastic Leukemia
chpo_term: 急性B淋巴细胞白血病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:619125):
KAYA-BARAKAT-MASSON SYNDROME
Kaya-Barakat-Masson syndrome

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0032989
hpo_term: Delayed ability to roll over
chpo_term: 翻身能力延迟
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:617108):
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
Sessile serrated polyposis cancer syndrome

Associated phenotypes (HPO):
id: HP:0032222
hpo_term: Serrated intestinal polyps
chpo_term: 锯齿状肠息肉
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614429):
VENTRICULAR SEPTAL DEFECT 1
Ventricular septal defect 1

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
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:190200):
TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS
Tremor of intention, ataxia, and lipofuscinosis

Associated phenotypes (HPO):
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618213):
Inflammatory bowel disease, immunodeficiency, and encephalopathy
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0410151
hpo_term: Eosinophilic infiltration of the esophagus
chpo_term: 食道嗜酸性粒细胞浸润
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0033351
hpo_term: Candida esophagitis
chpo_term: 念珠菌性食管炎
id: HP:0009789
hpo_term: Perianal abscess
chpo_term: 肛周脓肿
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
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:0033256
hpo_term: Pancolitis
chpo_term: 全结肠炎
id: HP:0031379
hpo_term: Abnormal T cell proliferation
chpo_term: T细胞异常增殖
id: HP:0032170
hpo_term: Severe varicella zoster infection
chpo_term: 重度水痘带状疱疹感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005419
hpo_term: Decreased T cell activation
chpo_term: T细胞活化降低
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0005218
hpo_term: Anoperineal fistula
chpo_term: 肛门会阴瘘
id: HP:0001931
hpo_term: Hypochromic anemia
chpo_term: 低色素性贫血
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
Disease (OMIM:617120):
Joubert syndrome 27
JOUBERT SYNDROME 27

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010946
hpo_term: Dilatation of the renal pelvis
chpo_term: 肾盂扩张
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
Disease (OMIM:610883):
Potocki-Lupski syndrome
POTOCKI-LUPSKI SYNDROME

Associated phenotypes (HPO):
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0002381
hpo_term: Aphasia
chpo_term: 失语症
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:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002474
hpo_term: Expressive language delay
chpo_term: 语言表达延迟
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
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:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0005274
hpo_term: Prominent nasal tip
chpo_term: 鼻尖突出
id: HP:0010863
hpo_term: Receptive language delay
chpo_term: 接受性语言发育迟缓
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003146
hpo_term: Hypocholesterolemia
chpo_term: 低胆固醇血症
id: HP:0002011
hpo_term: Morphological central nervous system abnormality
chpo_term: 中枢神经系统的形态异常
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0200136
hpo_term: Oral-pharyngeal dysphagia
chpo_term: 口咽部吞咽困难
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:275220):
TIBIAL HEMIMELIA
Tibial hemimelia

Associated phenotypes (HPO):
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009556
hpo_term: Absent tibia
chpo_term: 胫骨缺如
Disease (OMIM:194072):
Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome
WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME

Associated phenotypes (HPO):
id: HP:0000142
hpo_term: Abnormal vagina morphology
chpo_term: 阴道形态异常
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0000150
hpo_term: Gonadoblastoma
chpo_term: 性腺母细胞瘤
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000130
hpo_term: Abnormality of the uterus
chpo_term: 子宫异常
id: HP:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001466
hpo_term: Contiguous gene syndrome
chpo_term: 邻近基因综合征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:238320):
Hypergonadotropic hypogonadism
LEYDIG CELL HYPOPLASIA, TYPE I

Associated phenotypes (HPO):
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:615723):
Premature ovarian failure 8
PREMATURE OVARIAN FAILURE 8

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:613805):
MEIER-GORLIN SYNDROME 5
Meier-Gorlin syndrome 5

Associated phenotypes (HPO):
id: HP:0000385
hpo_term: Small earlobe
chpo_term: 小耳垂
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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0003090
hpo_term: Hypoplasia of the capital femoral epiphysis
chpo_term: 股骨近端骨骺发育不全
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003561
hpo_term: Birth length less than 3rd percentile
chpo_term: 出生身长小于第3百分位数
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0006361
hpo_term: Irregular femoral epiphysis
chpo_term: 股骨骨骺不规则
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸