TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:613722):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12
Developmental and epileptic encephalopathy 12

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:238750):
Hyperlysinuria with hyperammonemia
HYPERLYSINURIA WITH HYPERAMMONEMIA

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0003168
hpo_term: Dibasicaminoaciduria
chpo_term: 双碱基氨基酸尿症
id: HP:0003297
hpo_term: Hyperlysinuria
chpo_term: 高赖氨酸尿症
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002161
hpo_term: Hyperlysinemia
chpo_term: 高赖氨酸血症
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (OMIM:616882):
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3
Advanced sleep phase syndrome, familial, 3

Associated phenotypes (HPO):
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0031873
hpo_term: Early chronotype
chpo_term: 早睡早起
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618677):
Cortical dysplasia, complex, with other brain malformations 10
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
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:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0032390
hpo_term: Periventricular ribbonlike heterotopia
chpo_term: 脑室周围带状异位症
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0006891
hpo_term: Thick cerebral cortex
chpo_term: 大脑皮层增厚
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:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
Disease (OMIM:182260):
SLIPPED FEMORAL CAPITAL EPIPHYSES
Slipped femoral capital epiphyses

Associated phenotypes (HPO):
id: HP:0006461
hpo_term: Proximal femoral epiphysiolysis
chpo_term: 股骨近端骨骺生理溶解
id: HP:0008843
hpo_term: Hip osteoarthritis
chpo_term: 髋关节骨关节炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616896):
MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)
Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0011410
hpo_term: Caesarian section
chpo_term: 剖腹产
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:0009141
hpo_term: Depletion of mitochondrial DNA in muscle tissue
chpo_term: 肌肉组织中线粒体DNA消耗
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
Disease (OMIM:608470):
CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
Corneal dystrophy, Reis-Bucklers type

Associated phenotypes (HPO):
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
Disease (OMIM:618663):
Epileptic encephalopathy, early infantile, 81
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81

Associated phenotypes (HPO):
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002266
hpo_term: Focal clonic seizure
chpo_term: 局灶性阵挛性发作
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0000350
hpo_term: Small forehead
chpo_term: 小额头
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0011120
hpo_term: Concave nasal ridge
chpo_term: 凹鼻嵴
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:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
Disease (OMIM:131900):
Epidermolysis bullosa simplex 1B, generalized intermediate
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED

Associated phenotypes (HPO):
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0034194
hpo_term: Suprabasal cleavage
chpo_term: 基底上层裂隙
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
Disease (OMIM:146550):
HYPOTRICHOSIS 4
Marie unna hereditary hypotrichosis 1

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0030056
hpo_term: Uncombable hair
chpo_term: 蓬发
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613736):
Acne inversa, familial, 2, with or without dowling-degos disease
ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0012322
hpo_term: Perifolliculitis
chpo_term: 毛囊周炎
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0040154
hpo_term: Acne inversa
chpo_term: 化脓性汗腺炎
id: HP:0011132
hpo_term: Chronic furunculosis
chpo_term: 慢性疖病
id: HP:0100838
hpo_term: Recurrent cutaneous abscess formation
chpo_term: 复发性皮肤脓肿
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:609008):
Marfanoid habitus with situs inversus
MARFANOID HABITUS WITH SITUS INVERSUS

Associated phenotypes (HPO):
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0001132
hpo_term: Lens subluxation
chpo_term: 晶状体半脱位
id: HP:0001187
hpo_term: Hyperextensibility of the finger joints
chpo_term: 指间关节过伸
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0005301
hpo_term: Persistent left superior vena cava
chpo_term: 左侧上腔静脉永存
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
Disease (OMIM:617236):
Cone-rod dystrophy and hearing loss
CONE-ROD DYSTROPHY AND HEARING LOSS 1

Associated phenotypes (HPO):
id: HP:0012047
hpo_term: Hemeralopia
chpo_term: 昼盲
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
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:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
Disease (OMIM:311895):
PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES
Pierre Robin sequence with facial and digital anomalies

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001795
hpo_term: Hyperconvex nail
chpo_term: 甲异常凸起
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0005747
hpo_term: Easily subluxated first metacarpophalangeal joints
chpo_term: 第一掌指关节易半脱位
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:620115):
Developmental and epileptic encephalopathy 108
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108

Associated phenotypes (HPO):
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
id: HP:0032663
hpo_term: Focal motor status epilepticus
chpo_term: 局灶性运动癫痫持续状态
id: HP:0012506
hpo_term: Small pituitary gland
chpo_term: 垂体缩小
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0032660
hpo_term: Convulsive status epilepticus
chpo_term: 惊厥性癫痫持续状态
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:617961):
SPERMATOGENIC FAILURE 26
Spermatogenic failure 26

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
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
id: HP:0012869
hpo_term: Acephalic spermatozoa
chpo_term: 无头精子
Disease (OMIM:209770):
Aural atresia, multiple congenital anomalies, and mental retardation
AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION

Associated phenotypes (HPO):
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001438
hpo_term: Abnormal abdomen morphology
chpo_term: 腹部形态结构异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:212350):
Sengers syndrome
SENGERS SYNDROME

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
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: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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0009141
hpo_term: Depletion of mitochondrial DNA in muscle tissue
chpo_term: 肌肉组织中线粒体DNA消耗
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
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:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
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
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
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:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
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:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
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:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0004901
hpo_term: Exercise-induced lactic acidemia
chpo_term: 运动诱发的乳酸血症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
Disease (OMIM:610968):
OSTEOGENESIS IMPERFECTA, TYPE XI
Osteogenesis imperfecta, type XI

Associated phenotypes (HPO):
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004586
hpo_term: Biconcave vertebral bodies
chpo_term: 双凹椎体
id: HP:0003179
hpo_term: Protrusio acetabuli
chpo_term: 髋臼内陷
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
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:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0008422
hpo_term: Vertebral wedging
chpo_term: 椎体楔形变
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0000703
hpo_term: Dentinogenesis imperfecta
chpo_term: 牙本质发育不全
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0002953
hpo_term: Vertebral compression fracture
chpo_term: 椎体压缩性骨折
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:152900):
Lymphedema and cerebral arteriovenous anomaly
LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY

Associated phenotypes (HPO):
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619780):
MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE)
Mitochondrial DNA depletion syndrome 20 (MNGIE type)

Associated phenotypes (HPO):
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0004389
hpo_term: Intestinal pseudo-obstruction
chpo_term: 假性肠梗阻
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0006994
hpo_term: Diffuse leukoencephalopathy
chpo_term: 弥漫性脑白质病
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002401
hpo_term: Stroke-like episode
chpo_term: 卒中样发作
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0003689
hpo_term: Multiple mitochondrial DNA deletions
chpo_term: 线粒体DNA多处缺失
Disease (OMIM:619970):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104
Developmental and epileptic encephalopathy 104

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0032989
hpo_term: Delayed ability to roll over
chpo_term: 翻身能力延迟
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
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:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0020221
hpo_term: Clonic seizure
chpo_term: 阵挛性癫痫发作
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:245552):
Lambotte syndrome
LAMBOTTE SYNDROME

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002507
hpo_term: Semilobar holoprosencephaly
chpo_term: 半脑叶前脑无裂畸形
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001841
hpo_term: Preaxial foot polydactyly
chpo_term: 轴前多趾
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0007700
hpo_term: Ocular anterior segment dysgenesis
chpo_term: 眼球前段发育不全
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁