TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:301107):
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111
Intellectual developmental disorder, X-linked 111

Associated phenotypes (HPO):
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
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:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
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:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0410170
hpo_term: Hippocampal atrophy
chpo_term: 海马萎缩
id: HP:0100035
hpo_term: Phonic tics
chpo_term: 声音抽搐
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:179010):
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1
Pyloric stenosis, infantile hypertrophic 1

Associated phenotypes (HPO):
id: HP:0002587
hpo_term: Projectile vomiting
chpo_term: 喷射性呕吐
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0005977
hpo_term: Hypochloremic metabolic alkalosis
chpo_term: 低氯性代谢性碱中毒
Disease (OMIM:215600):
Cirrhosis, familial
CIRRHOSIS, FAMILIAL

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0004787
hpo_term: Fulminant hepatitis
chpo_term: 暴发性肝炎
id: HP:0410069
hpo_term: Increased level of propylene glycol in blood
chpo_term: 血液中丙二酸浓度增高
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0410067
hpo_term: Increased level of L-fucose in urine
chpo_term: 尿液L-岩藻糖水平增高
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
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:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002613
hpo_term: Biliary cirrhosis
chpo_term: 胆汁性肝硬化
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001413
hpo_term: Micronodular cirrhosis
chpo_term: 小结节性肝硬化
Disease (OMIM:300219):
MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT
Myotubular myopathy with abnormal genital development

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
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:0012741
hpo_term: Unilateral cryptorchidism
chpo_term: 单侧隐睾
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0003244
hpo_term: Penile hypospadias
chpo_term: 阴茎型尿道下裂
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000807
hpo_term: Glandular hypospadias
chpo_term: 阴茎头型尿道下裂
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613086):
GLAUCOMA 3, PRIMARY CONGENITAL, D
Glaucoma 3, primary congenital, D

Associated phenotypes (HPO):
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
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:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0008007
hpo_term: Primary congenital glaucoma
chpo_term: 原发性先天性青光眼
Disease (OMIM:614931):
ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE
Ectodermal dysplasia 9, hair/nail type

Associated phenotypes (HPO):
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0002298
hpo_term: Absent hair
chpo_term: 毛发缺失
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0032226
hpo_term: Abnormal sebaceous gland morphology
chpo_term: 皮脂腺形态异常
id: HP:0012741
hpo_term: Unilateral cryptorchidism
chpo_term: 单侧隐睾
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0040039
hpo_term: Onycholysis of fingernails
chpo_term: 指甲剥离
id: HP:0500262
hpo_term: Atrichia
chpo_term: 无毛症
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000971
hpo_term: Abnormal sweat gland morphology
chpo_term: 汗腺异常
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
Disease (OMIM:258700):
Opticocochleodentate degeneration
OPTICOCOCHLEODENTATE DEGENERATION

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0005102
hpo_term: Cochlear degeneration
chpo_term: 耳蜗退行性变
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
Disease (OMIM:613938):
Parasomnia, Sleepwalking type
PARASOMNIA, SLEEPWALKING TYPE

Associated phenotypes (HPO):
id: HP:0030765
hpo_term: Sleep terror
chpo_term: 睡惊症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616840):
Parkinson disease 23, autosomal recessive early-onset
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET

Associated phenotypes (HPO):
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0031825
hpo_term: Freezing of gait
chpo_term: 冻结步态
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
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:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0100315
hpo_term: Lewy bodies
chpo_term: 路易体
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0002548
hpo_term: Parkinsonism with favorable response to dopaminergic medication
chpo_term: 对多巴胺能药物反应良好的帕金森
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
Disease (OMIM:243320):
INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF
Intrinsic factor and R binder, combined congenital deficiency of

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0005219
hpo_term: Absence of intrinsic factor
chpo_term: 内因子缺乏
Disease (OMIM:616868):
DIARRHEA 8, SECRETORY SODIUM, CONGENITAL
Diarrhea 8, secretory sodium, congenital

Associated phenotypes (HPO):
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0033994
hpo_term: Dependency on parenteral nutrition
chpo_term: 依赖肠外营养
id: HP:0032024
hpo_term: Ileal ulcer
chpo_term: 回肠溃疡
id: HP:0032487
hpo_term: Reduced fecal osmolality
chpo_term: 粪便渗透压降低
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0032489
hpo_term: Elevated fecal pH
chpo_term: 粪便pH值升高
id: HP:0010931
hpo_term: Abnormal blood sodium concentration
chpo_term: 钠离子稳态平衡异常
id: HP:0034470
id: HP:0032484
hpo_term: Elevated fecal sodium
chpo_term: 粪便钠升高
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0005208
hpo_term: Secretory diarrhea
chpo_term: 分泌性腹泻
Disease (OMIM:618845):
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3
Vertebral, cardiac, renal, and limb defects syndrome 3

Associated phenotypes (HPO):
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0010958
hpo_term: Bilateral renal agenesis
chpo_term: 双肾缺如
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0011638
hpo_term: Anomalous origin of left coronary artery from the pulmonary artery
chpo_term: 肺动脉源性左冠状动脉起源异常
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0005999
hpo_term: Ureteral atresia
chpo_term: 输尿管闭锁
Disease (OMIM:605814):
Citrullinemia, type II, neonatal-onset
CITRULLINEMIA, TYPE II, NEONATAL-ONSET

Associated phenotypes (HPO):
id: HP:0003235
hpo_term: Hypermethioninemia
chpo_term: 高甲硫胺酸血症
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0003354
hpo_term: Hyperthreoninemia
chpo_term: 高苏氨酸血症
id: HP:0003231
hpo_term: Hypertyrosinemia
chpo_term: 高酪氨酸血症
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002161
hpo_term: Hyperlysinemia
chpo_term: 高赖氨酸血症
id: HP:0012202
hpo_term: Increased serum bile acid concentration
chpo_term: 血清胆汁酸浓度增高
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001406
hpo_term: Intrahepatic cholestasis
chpo_term: 肝内胆汁淤积
id: HP:0001403
hpo_term: Macrovesicular hepatic steatosis
chpo_term: 大泡性肝脂肪变性
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
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:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0011966
hpo_term: Elevated plasma citrulline
chpo_term: 血浆瓜氨酸升高
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0500153
hpo_term: Hyperargininemia
chpo_term: 高精氨酸血症
id: HP:0006580
hpo_term: Portal fibrosis
chpo_term: 汇管区纤维化
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
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:0001414
hpo_term: Microvesicular hepatic steatosis
chpo_term: 小泡性肝脂肪变性
Disease (OMIM:314250):
Dystonia 3, torsion, X-linked
DYSTONIA 3, TORSION, 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:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002548
hpo_term: Parkinsonism with favorable response to dopaminergic medication
chpo_term: 对多巴胺能药物反应良好的帕金森
id: HP:0001304
hpo_term: Torsion dystonia
chpo_term: 扭转性肌张力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:154800):
MASTOCYTOSIS, CUTANEOUS
Mastocytosis, cutaneous

Associated phenotypes (HPO):
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0007583
hpo_term: Telangiectasia macularis eruptiva perstans
chpo_term: 持久斑疹性毛细血管扩张
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0200151
hpo_term: Cutaneous mastocytosis
chpo_term: 皮肤肥大细胞增多症
Disease (OMIM:103780):
ALCOHOL DEPENDENCE
Alcohol dependence

Associated phenotypes (HPO):
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0030955
hpo_term: Alcoholism
chpo_term: 酗酒
Disease (OMIM:119900):
DIGITAL CLUBBING, ISOLATED CONGENITAL
Digital clubbing, isolated congenital

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:620470):
Congenital smooth muscle hamartoma with or without hemihypertrophy
CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0010566
hpo_term: Hamartoma
chpo_term: 错构瘤
id: HP:0001528
hpo_term: Hemihypertrophy
chpo_term: 偏身肥大
Disease (OMIM:611875):
BRUGADA SYNDROME 3
Brugada syndrome 3

Associated phenotypes (HPO):
id: HP:0012232
hpo_term: Shortened QT interval
chpo_term: QT间期缩短
id: HP:0012272
hpo_term: J wave
chpo_term: J波
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
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:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
Disease (OMIM:620316):
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12
Cortical dysplasia, complex, with other brain malformations 12

Associated phenotypes (HPO):
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002263
hpo_term: Exaggerated cupid's bow
chpo_term: 夸张的丘比特唇弓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0025102
hpo_term: Dysgenesis of the basal ganglia
chpo_term: 基底节发育不良
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0005445
hpo_term: Enlarged posterior fossa
chpo_term: 后颅窝增宽
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0100541
hpo_term: Femoral hernia
chpo_term: 股疝
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:618851):
Combined oxidative phosphorylation deficiency 43
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43

Associated phenotypes (HPO):
id: HP:0002587
hpo_term: Projectile vomiting
chpo_term: 喷射性呕吐
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0011924
hpo_term: Decreased activity of mitochondrial complex III
chpo_term: 线粒体复合物III活性降低
id: HP:0008807
hpo_term: Acetabular dysplasia
chpo_term: 髋臼发育不良
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
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:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
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:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
Disease (OMIM:138070):
GLUCOGLYCINURIA

Associated phenotypes (HPO):
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0003108
hpo_term: Hyperglycinuria
chpo_term: 高甘氨酸尿症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:204730):
AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS
Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosis

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
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:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
Disease (OMIM:177000):
PROTOPORPHYRIA, ERYTHROPOIETIC, 1
Protoporphyria, erythropoietic, 1

Associated phenotypes (HPO):
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:6000697
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
Disease (OMIM:256710):
Elejalde disease
ELEJALDE NEUROECTODERMAL MELANOLYSOSOMAL SYNDROME

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002220
hpo_term: Melanin pigment aggregation in hair shafts
chpo_term: 发干部位色素沉积
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
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: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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001008
hpo_term: Accumulation of melanosomes in melanocytes
chpo_term: 黑素细胞中黑素小体聚集
id: HP:0002218
hpo_term: Silver-gray hair
chpo_term: 银灰色毛发
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
Disease (OMIM:210745):
BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE
Blepharophimosis with ptosis, syndactyly, and short stature

Associated phenotypes (HPO):
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
id: HP:0007715
hpo_term: Weak extraocular muscles
chpo_term: 眼外肌薄弱
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004661
hpo_term: Frontalis muscle weakness
chpo_term: 额肌乏力
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0025586
hpo_term: Hypertropia
chpo_term: 上斜视
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
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:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突