TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:139444):
Leukoencephalopathy with bilateral anterior temporal lobe cysts

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0010576
hpo_term: Intracranial cystic lesion
chpo_term: 颅内囊性病变
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
Disease (ORPHA:2528):
Seemanova-Lesny syndrome
Microcephaly-microcornea syndrome, Seemanova type

Associated phenotypes (HPO):
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:488650):
Distal myopathy, Tateyama type

Associated phenotypes (HPO):
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0003707
hpo_term: Calf muscle pseudohypertrophy
chpo_term: 小腿肌肉假性肥大
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0009005
hpo_term: Weakness of the intrinsic hand muscles
chpo_term: 手内在肌无力
id: HP:0009063
hpo_term: Progressive distal muscle weakness
chpo_term: 进行性远端肌无力
id: HP:0030089
hpo_term: Abnormal muscle fiber protein expression
chpo_term: 肌纤维蛋白表达异常
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003760
hpo_term: Percussion-induced rapid rolling muscle contractions
chpo_term: 扣击引起的快速滚动的肌肉收缩（PIRC）
id: HP:0008962
hpo_term: Calf muscle hypoplasia
chpo_term: 小腿肌肉发育不良
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
Disease (ORPHA:2521):
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:2522):
Microcephaly-cervical spine fusion anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0004312
hpo_term: Abnormal reticulocyte morphology
chpo_term: 网织红细胞形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0010620
hpo_term: Malar prominence
chpo_term: 颧骨突出
id: HP:0012371
hpo_term: Hyperplasia of midface
chpo_term: 中面部肥大
Disease (ORPHA:2523):
Microcephaly-brain defect-spasticity-hypernatremia syndrome
Franek-Bocker-Kahlen syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:401953):
Episodic ataxia with slurred speech
Episodic ataxia type 8

Associated phenotypes (HPO):
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0012547
hpo_term: Abnormal involuntary eye movements
chpo_term: 不自主眼球运动异常
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002411
hpo_term: Myokymia
chpo_term: 肌纤维颤搐
Disease (ORPHA:139471):
Bakrania-Ragge syndrome
MCOPS6
Syndromic microphthalmia type 6
Microphthalmia with brain and digit anomalies

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0000864
hpo_term: Abnormality of the hypothalamus-pituitary axis
chpo_term: 下丘脑-垂体轴异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007068
hpo_term: Inferior cerebellar vermis hypoplasia
chpo_term: 下小脑蚓发育不全
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
Disease (ORPHA:458803):
SCA42
Spinocerebellar ataxia type 42

Associated phenotypes (HPO):
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0012759
hpo_term: Neurodevelopmental abnormality
chpo_term: 神经发育异常
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001152
hpo_term: Saccadic smooth pursuit
chpo_term: 扫视平滑追视
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0006938
hpo_term: Impaired vibration sensation at ankles
chpo_term: 脚踝振动觉障碍
id: HP:0007979
hpo_term: Gaze-evoked horizontal nystagmus
chpo_term: 凝视诱发水平眼震
id: HP:0031166
hpo_term: Eyelid myokymia
chpo_term: 眼睑肌颤搐
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000571
hpo_term: Hypometric saccades
chpo_term: 扫视不到位
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0002511
hpo_term: Alzheimer disease
chpo_term: 阿尔茨海默病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0007351
hpo_term: Upper limb postural tremor
chpo_term: 上肢姿势性震颤
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0012708
hpo_term: Reduced brain N-acetyl aspartate level by MRS
chpo_term: 通过MRS发现N-乙酰天门冬氨酸水平降低
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
Disease (ORPHA:139474):
17q11.2 microduplication syndrome
Dup(17)(q11.2)
Trisomy 17q11.2
Grisart-Destrée syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0004411
hpo_term: Deviated nasal septum
chpo_term: 鼻中隔偏曲
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0011803
hpo_term: Bifid nose
chpo_term: 鼻裂
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
Disease (ORPHA:2513):
Castro Gago-Pombo-Novo syndrome
Microcephaly-albinism-digital anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010185
hpo_term: Aplasia/Hypoplasia of the distal phalanges of the toes
chpo_term: 末节趾骨发育不良/发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
Disease (ORPHA:2514):
Autosomal dominant primary microcephaly

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001137
hpo_term: Alternating esotropia
chpo_term: 交替性内斜视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
Disease (ORPHA:2515):
Microcephaly-cardiomyopathy syndrome
Winship-Viljoen-Leary syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
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:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
Disease (ORPHA:2516):
Ellis-Yale-Winter syndrome
Microcephaly-cardiac defect-lung malsegmentation syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000383
hpo_term: Abnormal periauricular region morphology
chpo_term: 耳前区形态异常
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001660
hpo_term: Truncus arteriosus
chpo_term: 动脉干
id: HP:0001679
hpo_term: Abnormal aortic morphology
chpo_term: 主动脉形态异常
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
Disease (ORPHA:2518):
Autosomal recessive chorioretinopathy-microcephaly syndrome
Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
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:0000499
hpo_term: Abnormal eyelash morphology
chpo_term: 睫毛形态异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
Disease (ORPHA:2519):
Microcephaly-seizures-intellectual disability-heart disease syndrome

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0006934
hpo_term: Congenital nystagmus
chpo_term: 先天性眼球震颤
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
Disease (ORPHA:2510):
Warburg micro syndrome
WARBM
Micro syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000060
hpo_term: Clitoral hypoplasia
chpo_term: 阴蒂发育不良
id: HP:0000064
hpo_term: Hypoplastic labia minora
chpo_term: 小阴唇发育不良
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
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:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
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:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0100542
hpo_term: Abnormal localization of kidney
chpo_term: 肾脏位置异常
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
Disease (ORPHA:2511):
Richieri Costa-Guion Almeida-Ramos syndrome
Microbrachycephaly-ptosis-cleft lip syndrome

Associated phenotypes (HPO):
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
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:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0003172
hpo_term: Abnormality of the pubic bone
chpo_term: 耻骨异常
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008818
hpo_term: Large iliac wing
chpo_term: 大髂骨翼
id: HP:0009721
hpo_term: Shagreen patch
chpo_term: 鲨鱼皮样斑
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0010668
hpo_term: Abnormal zygomatic bone morphology
chpo_term: 颧骨形态异常
id: HP:0100333
hpo_term: Unilateral cleft lip
chpo_term: 单侧唇裂
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺