TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:613675):
Chromosome 17q11.2 deletion syndrome, 1.4-mb
CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB

Associated phenotypes (HPO):
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0007183
hpo_term: Focal T2 hyperintense basal ganglia lesion
chpo_term: 基底节局灶性T2高信号病变
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0000997
hpo_term: Axillary freckling
chpo_term: 腋窝雀斑
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001067
hpo_term: Neurofibromas
chpo_term: 神经纤维瘤
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0100697
hpo_term: Neurofibrosarcoma
chpo_term: 神经纤维肉瘤
id: HP:0100698
hpo_term: Subcutaneous neurofibromas
chpo_term: 皮下的神经纤维瘤
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0030052
hpo_term: Inguinal freckling
chpo_term: 腹股沟雀斑
id: HP:0009732
hpo_term: Plexiform neurofibroma
chpo_term: 丛状神经纤维瘤
id: HP:0009735
hpo_term: Spinal neurofibromas
chpo_term: 脊髓神经纤维瘤
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0009734
hpo_term: Optic nerve glioma
chpo_term: 视神经胶质瘤
id: HP:0009737
hpo_term: Lisch nodules
chpo_term: Lisch结节
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
Disease (OMIM:156600):
MICROCORIA, CONGENITAL
Microcoria, congenital

Associated phenotypes (HPO):
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0008345
hpo_term: Hypoplasia of the iris dilator muscle
chpo_term: 瞳孔开大肌发育不全
id: HP:0025492
hpo_term: Microcoria
chpo_term: 小瞳孔
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
Disease (OMIM:613107):
NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT
Neutropenia, severe congenital, 2, autosomal dominant

Associated phenotypes (HPO):
id: HP:0012311
hpo_term: Monocytosis
chpo_term: 单核细胞增多症
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:261000):
INTRINSIC FACTOR DEFICIENCY
Intrinsic factor deficiency

Associated phenotypes (HPO):
id: HP:0020181
hpo_term: Reduced haptoglobin level
chpo_term: 结合珠蛋白水平降低
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0200118
hpo_term: Malabsorption of Vitamin B12
chpo_term: 维生素B12吸收不良
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0031965
hpo_term: Increased RBC distribution width
chpo_term: 红细胞分布宽度增加
id: HP:0100502
hpo_term: Vitamin B12 deficiency
chpo_term: 维生素B12缺乏症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
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:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0200143
hpo_term: Megaloblastic erythroid hyperplasia
chpo_term: 巨幼红细胞增生异常
id: HP:0005219
hpo_term: Absence of intrinsic factor
chpo_term: 内因子缺乏
Disease (OMIM:530000):
KEARNS-SAYRE SYNDROME
Kearns-Sayre syndrome

Associated phenotypes (HPO):
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: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:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001709
hpo_term: Third degree atrioventricular block
chpo_term: 三度房室传导阻滞
id: HP:0001947
hpo_term: Renal tubular acidosis
chpo_term: 肾小管性酸中毒
id: HP:0001427
hpo_term: Mitochondrial inheritance
chpo_term: 线粒体遗传
id: HP:0001924
hpo_term: Sideroblastic anemia
chpo_term: 铁粒幼细胞性贫血
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
Disease (OMIM:612219):
EWING SARCOMA
Ewing sarcoma

Associated phenotypes (HPO):
id: HP:0012254
hpo_term: Ewing sarcoma
chpo_term: 尤文肉瘤
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
Disease (OMIM:618052):
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27
Cardiomyopathy, familial hypertrophic 27

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0031319
hpo_term: Cardiomyocyte hypertrophy
chpo_term: 心肌细胞肥大
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0005157
hpo_term: Concentric hypertrophic cardiomyopathy
chpo_term: 向心性肥厚型心肌病
id: HP:0005144
hpo_term: Ventricular septal hypertrophy
chpo_term: 室间隔肥厚
id: HP:0025168
hpo_term: Left ventricular diastolic dysfunction
chpo_term: 左心室舒张功能障碍
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0001706
hpo_term: Endocardial fibroelastosis
chpo_term: 心内膜弹力纤维增生症
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0006670
hpo_term: Impaired myocardial contractility
chpo_term: 心肌收缩力受损
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001059
hpo_term: Pterygium
chpo_term: 翼状胬肉
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
Disease (OMIM:265500):
Pulmonic stenosis
PULMONIC STENOSIS

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
Disease (OMIM:618734):
Aneurysm, intracranial berry, 12
ANEURYSM, INTRACRANIAL BERRY, 12

Associated phenotypes (HPO):
id: HP:0005313
hpo_term: Arterial fibromuscular dysplasia
chpo_term: 纤维肌性动脉发育不良
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0031056
hpo_term: Fusiform cerebral aneurysm
chpo_term: 梭形脑动脉瘤
id: HP:0007029
hpo_term: Cerebral berry aneurysm
chpo_term: 颅内浆果样动脉瘤
id: HP:0012159
hpo_term: Internal carotid artery dissection
chpo_term: 颈内动脉夹层
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
Disease (OMIM:616719):
Spinocerebellar ataxia, autosomal recessive 21
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21

Associated phenotypes (HPO):
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0025268
hpo_term: Stuttering
chpo_term: 口吃
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
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:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
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:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0012852
hpo_term: Hepatic bridging fibrosis
chpo_term: 肝桥接性纤维化
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:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:603472):
Neuronal intranuclear inclusion disease
NEURONAL INTRANUCLEAR INCLUSION DISEASE

Associated phenotypes (HPO):
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0000616
hpo_term: Miosis
chpo_term: 瞳孔缩小
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003448
hpo_term: Decreased sensory nerve conduction velocity
chpo_term: 感觉神经传导速度降低
id: HP:0003403
hpo_term: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
chpo_term: EMG：复合肌肉动作电位对重复神经刺激的反应递减
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
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
Disease (OMIM:613661):
Congenital disorder of glycosylation, type Ip
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

Associated phenotypes (HPO):
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0003642
hpo_term: Type I transferrin isoform profile
chpo_term: I型转铁蛋白异构体谱
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
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: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:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011198
hpo_term: EEG with generalized epileptiform discharges
chpo_term: 脑电图，伴广泛性癫痫样放电
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0005968
hpo_term: Temperature instability
chpo_term: 体温不稳定
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:620283):
DEAFNESS, AUTOSOMAL DOMINANT 88
Deafness, autosomal dominant 88

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:619402):
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28
Cardiomyopathy, familial hypertrophic, 28

Associated phenotypes (HPO):
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0005157
hpo_term: Concentric hypertrophic cardiomyopathy
chpo_term: 向心性肥厚型心肌病
id: HP:0001670
hpo_term: Asymmetric septal hypertrophy
chpo_term: 非对称性心室间隔肥厚
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0031992
hpo_term: Apical hypertrophic cardiomyopathy
chpo_term: 心尖肥厚型心肌病
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0031656
hpo_term: Systolic anterior motion of the mitral valve
chpo_term: 二尖瓣收缩期前向运动
id: HP:4000004
hpo_term: Myocardial late gadolinium enhancement
chpo_term: 心肌钆对比剂延迟强化
id: HP:0031295
hpo_term: Left atrial enlargement
chpo_term: 左心房增大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0032092
hpo_term: Left ventricular outflow tract obstruction
chpo_term: 左心室流出道梗阻
Disease (OMIM:208920):
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

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:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0033051
hpo_term: Impaired executive functioning
chpo_term: 执行功能受损
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0040078
hpo_term: Axonal degeneration
chpo_term: 轴索变性
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
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:0000571
hpo_term: Hypometric saccades
chpo_term: 扫视不到位
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: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:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
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:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
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:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000764
hpo_term: Peripheral axonal degeneration
chpo_term: 外围神经轴索变性
Disease (OMIM:217800):
MACULAR DYSTROPHY, CORNEAL
Macular dystrophy, corneal, 1

Associated phenotypes (HPO):
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007754
hpo_term: Macular dystrophy
chpo_term: 黄斑营养不良
id: HP:0007856
hpo_term: Punctate opacification of the cornea
chpo_term: 角膜的点状混浊
Disease (OMIM:615238):
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5
Lipodystrophy, familial partial, type 5

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0030796
hpo_term: Increased C-peptide level
chpo_term: C-肽水平增高
id: HP:0030685
hpo_term: Decreased adiponectin level
chpo_term: 脂联素水平降低
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003292
hpo_term: Decreased serum leptin
chpo_term: 血清瘦素水平降低
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
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:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001953
hpo_term: Diabetic ketoacidosis
chpo_term: 糖尿病酮症酸中毒
Disease (OMIM:260450):
MOVED TO 243800
Pancreatic insufficiency, combined exocrine

Associated phenotypes (HPO):
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0003075
hpo_term: Hypoproteinemia
chpo_term: 低蛋白血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0012050
hpo_term: Anasarca
chpo_term: 全身水肿
Disease (OMIM:614640):
UV-sensitive syndrome 3
UV-SENSITIVE SYNDROME 3

Associated phenotypes (HPO):
id: HP:0003224
hpo_term: Increased cellular sensitivity to UV light
chpo_term: 对紫外光的细胞敏感度增强
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:229050):
FOLATE MALABSORPTION, HEREDITARY
Folate malabsorption, hereditary

Associated phenotypes (HPO):
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
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: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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:6000258
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0100507
hpo_term: Reduced blood folate concentration
chpo_term: 叶酸缺乏症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0004851
hpo_term: Folate-responsive megaloblastic anemia
chpo_term: 叶酸反应型巨幼细胞性贫血
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
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:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:165590):
OROFACIODIGITAL SYNDROME X
Orofaciodigital syndrome X

Associated phenotypes (HPO):
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0002990
hpo_term: Fibular aplasia
chpo_term: 腓骨发育不良
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005802
hpo_term: Coalescence of tarsal bones
chpo_term: 跗骨融合
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0009380
hpo_term: Aplasia of the fingers
chpo_term: 手指发育不全
Disease (OMIM:614898):
SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE
Spastic paraplegia 53, autosomal recessive

Associated phenotypes (HPO):
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
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:0200049
hpo_term: Upper limb hypertonia
chpo_term: 上肢张力增高
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进