TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:206443):
Late-infantile/juvenile Krabbe disease
Krabbe disease, late-onset

Associated phenotypes (HPO):
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0034322
hpo_term: Reduced galactocerebrosidase activity
chpo_term: 半乳糖脑苷酯酶活性降低
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0004466
hpo_term: Prolonged brainstem auditory evoked potentials
chpo_term: 脑干听觉诱发电位延长
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010846
hpo_term: EEG with persistent abnormal rhythmic activity
chpo_term: 脑电图，异常的持续性节律活动
id: HP:0011400
hpo_term: Abnormal CNS myelination
chpo_term: 中枢神经系统髓鞘异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002068
hpo_term: Neuromuscular dysphagia
chpo_term: 神经肌肉源性吞咽困难
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0031006
hpo_term: Acroparesthesia
chpo_term: 肢端感觉障碍
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
Disease (ORPHA:660):
Omphalocele

Associated phenotypes (HPO):
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0011432
hpo_term: High maternal circulating alpha-fetoprotein concentration
chpo_term: 母体循环甲胎蛋白水平高
id: HP:0011425
hpo_term: Fetal ultrasound soft marker
chpo_term: 胎儿超声软指标
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
Disease (ORPHA:1906):
Fetal valproate syndrome
Fetal valproic acid syndrome
Valproic acid embryopathy
Fetal valproate spectrum disorder

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
Disease (ORPHA:261295):
20p12.3 microdeletion syndrome
Del(20)(p12.3)
Monosomy 20p12.3

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000391
hpo_term: Thickened helices
chpo_term: 耳轮增厚
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001716
hpo_term: Wolff-Parkinson-White syndrome
chpo_term: 预激综合征
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
Disease (ORPHA:324713):
Hereditary cerebral hemorrhage with amyloidosis, Italian type
ABetaE22K amyloidosis
ABeta amyloidosis, Italian type
HCHWA, Italian type

Associated phenotypes (HPO):
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
Disease (ORPHA:66631):
CEDNIK syndrome
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0007447
hpo_term: Diffuse palmoplantar hyperkeratosis
chpo_term: 弥漫性掌跖角化过度
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0003134
hpo_term: Abnormality of peripheral nerve conduction
chpo_term: 周围神经传导异常
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:66630):
Congenital pseudoarthrosis of the clavicle
Congenital pseudarthrosis of the clavicle

Associated phenotypes (HPO):
id: HP:0000891
hpo_term: Cervical ribs
chpo_term: 颈肋
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0006585
hpo_term: Congenital pseudoarthrosis of the clavicle
chpo_term: 先天性锁骨假关节
Disease (ORPHA:320355):
Autosomal dominant spastic paraplegia type 41
SPG41

Associated phenotypes (HPO):
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002314
hpo_term: Degeneration of the lateral corticospinal tracts
chpo_term: 皮质脊髓侧束变性
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
id: HP:0100561
hpo_term: Spinal cord lesion
chpo_term: 脊髓病变
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0012898
hpo_term: Abnormal lower-limb motor evoked potentials
chpo_term: 下肢运动诱发电位异常
Disease (ORPHA:261290):
Trisomy 17p syndrome
Dup(17p)

Associated phenotypes (HPO):
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0008661
hpo_term: Urethral stenosis
chpo_term: 尿道狭窄
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0010481
hpo_term: Urethral valve
chpo_term: 尿道瓣膜
id: HP:0011229
hpo_term: Broad eyebrow
chpo_term: 宽眉
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
Disease (ORPHA:251019):
Del(2)(q32q33)
2q32q33 deletion syndrome
2q32q33 microdeletion syndrome
Monosomy 2q32
Del(2)(q32)
Monosomy 2q32q33

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
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:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001863
hpo_term: Toe clinodactyly
chpo_term: 脚趾屈趾畸形
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002546
hpo_term: Incomprehensible speech
chpo_term: 难以理解的言语
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
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:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100024
hpo_term: Conspicuously happy disposition
chpo_term: 显着快乐的性格
Disease (ORPHA:66624):
Pediatric autoimmune disorders associated with Streptococcus infections
Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
PANDAS

Associated phenotypes (HPO):
id: HP:0100033
hpo_term: Tics
chpo_term: 抽动症
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0008770
hpo_term: Obsessive-compulsive trait
chpo_term: 强迫特质
id: HP:0010865
hpo_term: Oppositional defiant disorder
chpo_term: 对立违抗性障碍
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0100852
hpo_term: Abnormal fear/anxiety-related behavior
chpo_term: 恐惧/焦虑相关行为异常
id: HP:0000756
hpo_term: Agoraphobia
chpo_term: 广场恐怖症
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002183
hpo_term: Phonophobia
chpo_term: 声音恐惧
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0005366
hpo_term: Recurrent streptococcus pneumoniae infections
chpo_term: 复发性链球菌感染肺炎
id: HP:0025253
hpo_term: Claustrophobia
chpo_term: 幽闭恐惧症
id: HP:0031468
hpo_term: Separation insecurity
chpo_term: 分离焦虑
id: HP:0040183
hpo_term: Encopresis
chpo_term: 大便失禁
id: HP:0100754
hpo_term: Mania
chpo_term: 躁狂
Disease (ORPHA:66625):
Cerebrooculonasal syndrome

Associated phenotypes (HPO):
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0005288
hpo_term: Abnormality of the nares
chpo_term: 鼻孔异常
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0100729
hpo_term: Large face
chpo_term: 大脸
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002006
hpo_term: Facial cleft
chpo_term: 面裂
id: HP:0006315
hpo_term: Solitary median maxillary central incisor
chpo_term: 单个上门齿
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0009912
hpo_term: Abnormal tragus morphology
chpo_term: 耳屏形态异常
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0010806
hpo_term: U-Shaped upper lip vermilion
chpo_term: U型上红唇
Disease (ORPHA:66628):
Obesity due to congenital leptin deficiency

Associated phenotypes (HPO):
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0003292
hpo_term: Decreased serum leptin
chpo_term: 血清瘦素水平降低
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0005419
hpo_term: Decreased T cell activation
chpo_term: T细胞活化降低
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0008724
hpo_term: Hypoplasia of the ovary
chpo_term: 卵巢发育不良
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0000831
hpo_term: Insulin-resistant diabetes mellitus
chpo_term: 胰岛素抵抗性糖尿病
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0004926
hpo_term: Orthostatic hypotension due to autonomic dysfunction
chpo_term: 自主神经功能障碍性体位性低血压
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
Disease (ORPHA:168549):
Axial spondylometaphyseal dysplasia

Associated phenotypes (HPO):
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000886
hpo_term: Deformed rib cage
chpo_term: 胸廓变形
id: HP:0000887
hpo_term: Cupped ribs
chpo_term: 杯状肋骨端
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002867
hpo_term: Abnormal ilium morphology
chpo_term: 髂骨形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0006431
hpo_term: Proximal femoral metaphyseal abnormality
chpo_term: 股骨近端干骺端异常
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0008786
hpo_term: Iliac crest serration
chpo_term: 髂嵴锯齿状缘
id: HP:0009824
hpo_term: Upper limb undergrowth
chpo_term: 上肢发育不良
id: HP:0045027
hpo_term: Abnormality of the thoracic cavity
chpo_term: 胸廓异常
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0003411
hpo_term: Proximal femoral metaphyseal irregularity
chpo_term: 股骨近端干骺端不规则
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006589
hpo_term: Flaring of lower rib cage
chpo_term: 下部肋缘外翻
id: HP:0006603
hpo_term: Flared, irregular rib ends
chpo_term: 喇叭状不规则肋骨端
id: HP:0006712
hpo_term: Aplasia/Hypoplasia of the ribs
chpo_term: 肋骨发育不良/发育不全
id: HP:0008515
hpo_term: Aplasia/Hypoplasia of the vertebrae
chpo_term: 椎体发育不良/发育不全
id: HP:0008812
hpo_term: Flattened femoral head
chpo_term: 股骨头扁平
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0012774
hpo_term: Increased upper to lower segment ratio
chpo_term: 上下身比例增大
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
id: HP:0001530
hpo_term: Mild postnatal growth retardation
chpo_term: 轻度产后发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0003086
hpo_term: Acromesomelia
chpo_term: 肢端发育不良
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0003375
hpo_term: Narrow greater sciatic notch
chpo_term: 坐骨大切迹变窄
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
id: HP:0007769
hpo_term: Peripheral retinal degeneration
chpo_term: 周边视网膜变性
id: HP:0008444
hpo_term: Posterior wedging of vertebral bodies
chpo_term: 椎体后侧楔形
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短