TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:612953):
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
Parkinson disease 14, autosomal recessive

Associated phenotypes (HPO):
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002145
hpo_term: Frontotemporal dementia
chpo_term: 额颞叶痴呆
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0025387
hpo_term: Pill-rolling tremor
chpo_term: 搓丸样震颤
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0006892
hpo_term: Frontotemporal cerebral atrophy
chpo_term: 额颞叶萎缩
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000658
hpo_term: Eyelid apraxia
chpo_term: 眼睑失用症
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0000017
hpo_term: Nocturia
chpo_term: 夜尿症
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000511
hpo_term: Vertical supranuclear gaze palsy
chpo_term: 垂直性核上性凝视麻痹
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002530
hpo_term: Axial dystonia
chpo_term: 轴向肌张力障碍
id: HP:0025097
hpo_term: Eyelid myoclonus
chpo_term: 眼睑肌阵挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0011468
hpo_term: Facial tics
chpo_term: 面部抽动
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0031833
hpo_term: Hypometric upward saccades
chpo_term: 低率向上扫视
id: HP:0007351
hpo_term: Upper limb postural tremor
chpo_term: 上肢姿势性震颤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
Disease (OMIM:208530):
RIGHT ATRIAL ISOMERISM
Right atrial isomerism (Ivemark)

Associated phenotypes (HPO):
id: HP:0031834
hpo_term: Aortopulmonary collateral arteries
chpo_term: 主肺动脉的侧支动脉
id: HP:0001674
hpo_term: Complete atrioventricular canal defect
chpo_term: 完全性房室通道缺损
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0001750
hpo_term: Single ventricle
chpo_term: 单心室
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0011565
hpo_term: Common atrium
chpo_term: 共同心房
id: HP:0031565
hpo_term: Abdominal situs ambiguus
chpo_term: 内脏位置异常
id: HP:0005160
hpo_term: Total anomalous pulmonary venous return
chpo_term: 完全性肺静脉回流异常
id: HP:0011536
hpo_term: Right atrial isomerism
chpo_term: 右心房异构
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001748
hpo_term: Polysplenia
chpo_term: 多脾
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
Disease (OMIM:136300):
Flynn-Aird syndrome
FLYNN-AIRD SYNDROME

Associated phenotypes (HPO):
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0005700
hpo_term: Increased bone density with cystic changes
chpo_term: 骨密度增加伴囊性变
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
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:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:610188):
Joubert syndrome 5
JOUBERT SYNDROME 5

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0002876
hpo_term: Episodic tachypnea
chpo_term: 阵发性呼吸急促
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
id: HP:0005565
hpo_term: Reduced renal corticomedullary differentiation
chpo_term: 肾皮髓质分界模糊
id: HP:0006817
hpo_term: Aplasia/Hypoplasia of the cerebellar vermis
chpo_term: 小脑蚓部发育缺陷/发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002790
hpo_term: Neonatal breathing dysregulation
chpo_term: 新生儿呼吸调节异常
id: HP:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
id: HP:0000803
hpo_term: Renal cortical cysts
chpo_term: 肾皮质囊肿
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:0004727
hpo_term: Impaired renal concentrating ability
chpo_term: 肾浓缩功能障碍
id: HP:0007875
hpo_term: Congenital blindness
chpo_term: 先天性失明
id: HP:0002404
hpo_term: Thickened superior cerebellar peduncle
chpo_term: 小脑上脚增厚
Disease (OMIM:301500):
FABRY DISEASE
Fabry disease

Associated phenotypes (HPO):
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001014
hpo_term: Angiokeratoma
chpo_term: 血管角皮瘤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0012702
hpo_term: Tenesmus
chpo_term: 里急后重
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0001071
hpo_term: Angiokeratoma corporis diffusum
chpo_term: 弥漫性血管角皮瘤
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:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0033595
hpo_term: Elevated circulating globotriaosylceramide concentration
chpo_term: 循环中神经酰胺三己糖苷浓度升高
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0006536
hpo_term: Airway obstruction
chpo_term: 气道阻塞
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0005144
hpo_term: Ventricular septal hypertrophy
chpo_term: 室间隔肥厚
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0034864
id: HP:0032567
hpo_term: Lipiduria
chpo_term: 脂尿症
id: HP:0032568
hpo_term: Urinary mulberry cells
chpo_term: 尿桑葚样细胞
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
Disease (OMIM:132600):
PILOMATRIXOMA
Pilomatrixoma, somatic

Associated phenotypes (HPO):
id: HP:0030434
hpo_term: Pilomatrixoma
chpo_term: 毛母质瘤
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
Disease (OMIM:137750):
GLAUCOMA 1, OPEN ANGLE, A
Glaucoma 1, open angle, A

Associated phenotypes (HPO):
id: HP:0007905
hpo_term: Abnormal iris vasculature
chpo_term: 虹膜血管异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:619184):
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011318
hpo_term: Bicoronal synostosis
chpo_term: 双侧冠状缝闭合
id: HP:0011062
hpo_term: Misalignment of incisors
chpo_term: 门牙错位
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0200136
hpo_term: Oral-pharyngeal dysphagia
chpo_term: 口咽部吞咽困难
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0002786
hpo_term: Tracheobronchomalacia
chpo_term: 气管支气管软化
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:608089):
ENDOMETRIAL CANCER
Endometrial carcinoma, somatic

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0012114
hpo_term: Endometrial carcinoma
chpo_term: 子宫内膜癌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615966):
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
Immunodeficiency 26 with or without neurologic abnormalities

Associated phenotypes (HPO):
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012176
hpo_term: Abnormal natural killer cell morphology
chpo_term: 自然杀伤细胞形态异常
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0004430
hpo_term: Severe combined immunodeficiency
chpo_term: 重症联合免疫缺陷
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0011107
hpo_term: Recurrent aphthous stomatitis
chpo_term: 复发性口疮性口炎
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:300636):
Immunodeficiency 33
IMMUNODEFICIENCY 33

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0032283
hpo_term: Disseminated nontuberculous mycobacterial infection
chpo_term: 播散性非结核分枝杆菌感染
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0020102
hpo_term: Pneumocystis jirovecii pneumonia
chpo_term: 肺孢子菌肺炎
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0000698
hpo_term: Conical tooth
chpo_term: 锥状齿
Disease (OMIM:300622):
TN POLYAGGLUTINATION SYNDROME
Tn polyagglutination syndrome

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0001877
hpo_term: Abnormal erythrocyte morphology
chpo_term: 红细胞形态异常
Disease (OMIM:200150):
Choreoacanthocytosis
CHOREOACANTHOCYTOSIS

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002340
hpo_term: Caudate atrophy
chpo_term: 尾状核萎缩
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:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0100033
hpo_term: Tics
chpo_term: 抽动症
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001927
hpo_term: Acanthocytosis
chpo_term: 棘形红细胞增多症
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000734
hpo_term: Disinhibition
chpo_term: 脱抑制
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0007326
hpo_term: Progressive choreoathetosis
chpo_term: 进行性舞蹈手足徐动
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0008767
hpo_term: Self-mutilation of tongue and lips due to involuntary movements
chpo_term: 不自主运动导致舌头和嘴唇自残
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
Disease (OMIM:221820):
Leukoencephalopathy, diffuse hereditary, with spheroids
LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS

Associated phenotypes (HPO):
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0033051
hpo_term: Impaired executive functioning
chpo_term: 执行功能受损
id: HP:0034381
hpo_term: Central nervous system axonal spheroid
chpo_term: 中枢神经系统轴突球样变
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
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:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
id: HP:0000727
hpo_term: Frontal lobe dementia
chpo_term: 额叶痴呆
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:0008765
hpo_term: Auditory hallucinations
chpo_term: 幻听
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
Disease (OMIM:615972):
Nanophthalmos 4
NANOPHTHALMOS 4

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0012426
hpo_term: Optic disc drusen
chpo_term: 视盘玻璃疣
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0012109
hpo_term: Angle closure glaucoma
chpo_term: 闭角型青光眼
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620711):
Leukoencephalopathy, porphyria-related
LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
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:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
Disease (OMIM:148190):
KERATITIS, HEREDITARY
Keratitis, hereditary

Associated phenotypes (HPO):
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传