TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:166200):
OSTEOGENESIS IMPERFECTA, TYPE I
Osteogenesis imperfecta, type I

Associated phenotypes (HPO):
id: HP:0000362
hpo_term: Otosclerosis
chpo_term: 耳硬化症
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0003321
hpo_term: Biconcave flattened vertebrae
chpo_term: 双凹扁平椎体
id: HP:6001053
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0006094
hpo_term: Finger joint hypermobility
chpo_term: 指关节活动过度
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0000703
hpo_term: Dentinogenesis imperfecta
chpo_term: 牙本质发育不全
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
Disease (OMIM:276901):
USHER SYNDROME, TYPE IIA
Usher syndrome, type IIA

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
Disease (OMIM:255100):
LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency

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:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001992
hpo_term: Organic aciduria
chpo_term: 有机酸尿症
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
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:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0004755
hpo_term: Supraventricular tachycardia
chpo_term: 室上性心动过速
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
Disease (OMIM:618591):
Short sleep, familial natural, 2
SHORT SLEEP, FAMILIAL NATURAL, 2

Associated phenotypes (HPO):
id: HP:0033063
hpo_term: Shortened sleep cycle
chpo_term: 睡眠周期缩短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:608782):
PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY
Pyruvate dehydrogenase phosphatase deficiency

Associated phenotypes (HPO):
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002928
hpo_term: Decreased activity of the pyruvate dehydrogenase complex
chpo_term: 丙酮酸脱氢酶（PDH）复合物活性降低
id: HP: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:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:226850):
EPILEPSY-TELANGIECTASIA

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000524
hpo_term: Conjunctival telangiectasia
chpo_term: 结膜毛细血管扩张
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:223900):
Neuropathy, hereditary sensory and autonomic, type III
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
id: HP:6000993
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:0012211
hpo_term: Abnormal renal physiology
chpo_term: 肾脏生理异常
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0005947
hpo_term: Decreased sensitivity to hypoxemia
chpo_term: 低氧血症敏感性减低
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001069
hpo_term: Episodic hyperhidrosis
chpo_term: 发作性多汗症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003387
hpo_term: Decreased number of large peripheral myelinated nerve fibers
chpo_term: 大的周围有髓鞘神经纤维数量减少
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001063
hpo_term: Acrocyanosis
chpo_term: 手足发绀
id: HP:0004891
hpo_term: Recurrent infections due to aspiration
chpo_term: 误吸造成反复感染
id: HP:0000096
hpo_term: Glomerular sclerosis
chpo_term: 肾小球硬化
id: HP:0008000
hpo_term: Decreased corneal reflex
chpo_term: 角膜反射减退
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:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0000224
hpo_term: Hypogeusia
chpo_term: 味觉减退
id: HP:0002821
hpo_term: Neuropathic arthropathy
chpo_term: 神经性关节病
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0003138
hpo_term: Increased blood urea nitrogen
chpo_term: 血液尿素氮升高
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0000522
hpo_term: Alacrima
chpo_term: 无泪
Disease (OMIM:300673):
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
Encephalopathy, neonatal severe, due to mecp2 mutations

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0007110
hpo_term: Central hypoventilation
chpo_term: 中枢性低通气
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0006887
hpo_term: Intellectual disability, progressive
chpo_term: 进行性智力障碍
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:607499):
Bulimia nervosa, susceptibility to, 1
BULIMIA NERVOSA, SUSCEPTIBILITY TO

Associated phenotypes (HPO):
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0100739
hpo_term: Bulimia
chpo_term: 贪食症
Disease (OMIM:310460):
MYOPIA 1, X-LINKED
Myopia 1, X-linked

Associated phenotypes (HPO):
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:206570):
ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT
Angiomatosis, diffuse corticomeningeal, of divry and van bogaert

Associated phenotypes (HPO):
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0002200
hpo_term: Pseudobulbar signs
chpo_term: 假性球麻痹症状
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012377
hpo_term: Hemianopia
chpo_term: 偏盲
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
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:0007586
hpo_term: Telangiectases producing 'marbled' skin
chpo_term: “大理石样” 毛细血管扩张性皮肤
id: HP:0002977
hpo_term: Aplasia/Hypoplasia involving the central nervous system
chpo_term: 中枢神经系统发育不全或不发育
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
Disease (OMIM:615923):
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
Epiphyseal chondrodysplasia, Miura type

Associated phenotypes (HPO):
id: HP:0032208
hpo_term: Increased urinary type 1 collagen N-terminal telopeptide level
chpo_term: 尿1型胶原蛋白N端端肽水平升高
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0010639
hpo_term: Elevated alkaline phosphatase of bone origin
chpo_term: 骨源性碱性磷酸酶升高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0031424
hpo_term: Abnormal circulating beta-C-terminal telopeptide level
chpo_term: β-C端交联肽水平异常
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001847
hpo_term: Long hallux
chpo_term: 长拇趾
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0005769
hpo_term: Fifth finger distal phalanx clinodactyly
chpo_term: 第五指末节指骨弯曲
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:300115):
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50
Mental retardation, X-linked 50

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:601942):
Diabetes mellitus, insulin-dependent, 10
TYPE 1 DIABETES MELLITUS 10

Associated phenotypes (HPO):
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
Disease (OMIM:215518):
Ciliary discoordination due to random ciliary orientation
CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION

Associated phenotypes (HPO):
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
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
Disease (OMIM:615937):
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2

Associated phenotypes (HPO):
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:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0007206
hpo_term: Hemimegalencephaly
chpo_term: 偏侧巨脑/偏侧巨脑畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620032):
CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS
Ciliary dyskinesia, primary, 48, without situs inversus

Associated phenotypes (HPO):
id: HP:0012264
hpo_term: Absent central microtubular pair morphology of respiratory motile cilia
chpo_term: 运动纤毛细胞中央成对微管形态缺失
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
Disease (OMIM:617675):
Myopathy, mitochondrial, and ataxia
MYOPATHY, MITOCHONDRIAL, AND ATAXIA

Associated phenotypes (HPO):
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0100874
hpo_term: Thick hair
chpo_term: 浓发
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
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:618546):
TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE
Trichothiodystrophy 7, nonphotosensitive

Associated phenotypes (HPO):
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0045055
hpo_term: Tiger tail banding
chpo_term: 老虎尾巴带
id: HP:0007479
hpo_term: Congenital nonbullous ichthyosiform erythroderma
chpo_term: 鱼鳞病样红皮病(大疱型)、大疱性鱼鳞病样角化过度症、显性遗传性先天性鱼鳞病、表皮松解性角化过度鱼鳞病
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
Disease (OMIM:619880):
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
Neurodevelopmental disorder with poor growth and skeletal anomalies

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
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:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0006150
hpo_term: Swan neck-like deformities of the fingers
chpo_term: 手指天鹅颈样畸形
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0006055
hpo_term: Ulnar deviated club hands
chpo_term: 向尺骨偏离的曲棍球棒样手
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
Disease (OMIM:300854):
RENAL CELL CARCINOMA, Xp11-ASSOCIATED
Renal cell carcinoma, xp11-associated

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0005584
hpo_term: Renal cell carcinoma
chpo_term: 肾细胞癌
Disease (OMIM:619658):
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS

Associated phenotypes (HPO):
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0410053
hpo_term: Elevated circulating gamma-aminobutyric acid concentration
chpo_term: 循环γ-氨基丁酸水平升高
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012852
hpo_term: Hepatic bridging fibrosis
chpo_term: 肝桥接性纤维化
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
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:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:180020):
RETINAL CONE DYSTROPHY 1
Retinal cone dystrophy 1

Associated phenotypes (HPO):
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0011504
hpo_term: Bull's eye maculopathy
chpo_term: 靶心样黄斑病变
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
Disease (OMIM:613375):
Maturity-onset diabetes of the young, type 11
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11

Associated phenotypes (HPO):
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0004904
hpo_term: Maturity-onset diabetes of the young
chpo_term: 青少年发病的成人型糖尿病
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:277410):
Methylmalonic aciduria and homocystinuria, Cbld type
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0003145
hpo_term: Decreased adenosylcobalamin
chpo_term: 腺苷钴胺素减少
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002156
hpo_term: Homocystinuria
chpo_term: 高胱氨酸尿症
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0003223
hpo_term: Decreased methylcobalamin
chpo_term: 甲基钴胺素减少
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:0003210
hpo_term: Decreased methylmalonyl-CoA mutase activity
chpo_term: 甲基丙二酰辅酶A变位酶活性降低
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002160
hpo_term: Hyperhomocystinemia
chpo_term: 高同型半胱氨酸血症
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0012120
hpo_term: Methylmalonic aciduria
chpo_term: 甲基丙二酸尿症
id: HP:0001889
hpo_term: Megaloblastic anemia
chpo_term: 巨幼细胞性贫血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002912
hpo_term: Methylmalonic acidemia
chpo_term: 甲基丙二酸血症
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0003658
hpo_term: Hypomethioninemia
chpo_term: 低甲硫氨酸血症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003524
hpo_term: Decreased methionine synthase activity
chpo_term: 甲硫氨酸合成酶活性降低