TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:618087):
SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0040080
hpo_term: Anteverted ears
chpo_term: 前倾耳
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
Disease (OMIM:616914):
Marfan lipodystrophy syndrome
MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME

Associated phenotypes (HPO):
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0009064
hpo_term: Generalized lipodystrophy
chpo_term: 全身脂肪营养不良
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0007485
hpo_term: Absence of subcutaneous fat
chpo_term: 皮下脂肪缺如
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0001187
hpo_term: Hyperextensibility of the finger joints
chpo_term: 指间关节过伸
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0100775
hpo_term: Dural ectasia
chpo_term: 硬膜扩张
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000418
hpo_term: Narrow nasal ridge
chpo_term: 鼻脊狭窄
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0012759
hpo_term: Neurodevelopmental abnormality
chpo_term: 神经发育异常
id: HP:0100960
hpo_term: Lateral ventricular asymmetry
chpo_term: 侧脑室不对称
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
Disease (OMIM:203650):
ALOPECIA-MENTAL RETARDATION SYNDROME 1
Alopecia-Mental retardation syndrome 1

Associated phenotypes (HPO):
id: HP:0002289
hpo_term: Alopecia universalis
chpo_term: 全身毛发脱失
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (OMIM:618939):
Treacher-Collins syndrome 4
TREACHER COLLINS SYNDROME 4

Associated phenotypes (HPO):
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0009554
hpo_term: Preauricular hair displacement
chpo_term: 耳前毛发移位
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000652
hpo_term: Lower eyelid coloboma
chpo_term: 下眼睑缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
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:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
Disease (OMIM:609820):
Erythrocytosis, familial, 3
ERYTHROCYTOSIS, FAMILIAL, 3

Associated phenotypes (HPO):
id: HP:0001900
hpo_term: Increased hemoglobin
chpo_term: 血红蛋白增多
id: HP:0001899
hpo_term: Increased hematocrit
chpo_term: 红细胞压积增高
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001898
hpo_term: Increased red blood cell mass
chpo_term: 红细胞数量增多
Disease (OMIM:614871):
PEROXISOME BIOGENESIS DISORDER 6B
Peroxisome biogenesis disorder 6B

Associated phenotypes (HPO):
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0012569
hpo_term: Delayed menarche
chpo_term: 月经初潮延迟
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0010571
hpo_term: Elevated levels of phytanic acid
chpo_term: 植烷酸水平升高
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0000641
hpo_term: Dysmetric saccades
chpo_term: 不规则扫视
id: HP:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:618093):
Spinocerebellar ataxia 48
SPINOCEREBELLAR ATAXIA 48

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
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:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:101000):
Neurofibromatosis, type II
NEUROFIBROMATOSIS, TYPE II

Associated phenotypes (HPO):
id: HP:0007935
hpo_term: Juvenile posterior subcapsular lenticular opacities
chpo_term: 青少年型后囊下晶体混浊
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
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:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0100014
hpo_term: Epiretinal membrane
chpo_term: 视网膜前膜
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0002858
hpo_term: Meningioma
chpo_term: 脑膜瘤
id: HP:0009588
hpo_term: Vestibular schwannoma
chpo_term: 前庭神经鞘瘤
id: HP:0000997
hpo_term: Axillary freckling
chpo_term: 腋窝雀斑
id: HP:0009589
hpo_term: Bilateral vestibular schwannoma
chpo_term: 双侧前庭神经鞘瘤
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0500089
hpo_term: Optic nerve sheath meningioma
chpo_term: 视神经鞘脑膜瘤
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0001067
hpo_term: Neurofibromas
chpo_term: 神经纤维瘤
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0009590
hpo_term: Unilateral vestibular schwannoma
chpo_term: 单侧前庭神经鞘瘤
id: HP:0009593
hpo_term: Peripheral Schwannoma
chpo_term: 周围神经鞘瘤
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0009594
hpo_term: Retinal hamartoma
chpo_term: 视网膜错构瘤
id: HP:0100019
hpo_term: Cortical cataract
chpo_term: 皮质性白内障
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0030052
hpo_term: Inguinal freckling
chpo_term: 腹股沟雀斑
id: HP:0002888
hpo_term: Ependymoma
chpo_term: 室管膜瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0009737
hpo_term: Lisch nodules
chpo_term: Lisch结节
Disease (OMIM:618078):
OVARIAN DYSGENESIS 6
Ovarian dysgenesis 6

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
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:0008197
hpo_term: Absence of pubertal development
chpo_term: 青春期发育缺失
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:619366):
Angioedema, hereditary, 7
ANGIOEDEMA, HEREDITARY, 7

Associated phenotypes (HPO):
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
id: HP:0033250
hpo_term: Nailfold capillary tortuosity
chpo_term: 甲襞毛细血管曲折
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0030254
hpo_term: Nail bed hemorrhage
chpo_term: 甲床出血
id: HP:0031244
hpo_term: Swollen lip
chpo_term: 嘴唇肿大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:185300):
STURGE-WEBER SYNDROME
Sturge-Weber syndrome

Associated phenotypes (HPO):
id: HP:0012222
hpo_term: Arachnoid hemangiomatosis
chpo_term: 蛛网膜血管瘤病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0007872
hpo_term: Choroidal hemangioma
chpo_term: 脉络膜血管瘤
id: HP:0000329
hpo_term: Facial hemangioma
chpo_term: 面部血管瘤
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:616055):
EPISODIC ATAXIA, TYPE 8
Episodic ataxia, type 8

Associated phenotypes (HPO):
id: HP:0002411
hpo_term: Myokymia
chpo_term: 肌纤维颤搐
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002131
hpo_term: Episodic ataxia
chpo_term: 发作性共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:612233):
Leukodystrophy, hypomyelinating, 4
LEUKODYSTROPHY, HYPOMYELINATING, 4

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
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:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0003219
hpo_term: Ethylmalonic aciduria
chpo_term: 乙基丙二酸尿症
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002599
hpo_term: Head titubation
chpo_term: 点头
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:105500):
Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1

Associated phenotypes (HPO):
id: HP:0002366
hpo_term: Abnormal lower motor neuron morphology
chpo_term: 下运动神经元形态异常
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:181600):
Huriez syndrome
HURIEZ SYNDROME

Associated phenotypes (HPO):
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0007455
hpo_term: Adermatoglyphia
chpo_term: 皮纹病
id: HP:0007545
hpo_term: Congenital palmoplantar hyperkeratosis
chpo_term: 先天性掌跖角化过度
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
Disease (OMIM:612555):
Breast-Ovarian cancer, familial, susceptibility to, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2

Associated phenotypes (HPO):
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616733):
COENZYME Q10 DEFICIENCY, PRIMARY, 8
Coenzyme Q10 deficiency, primary, 8

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
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:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0005932
hpo_term: Abnormal renal corticomedullary differentiation
chpo_term: 肾皮髓质分界异常
Disease (OMIM:600151):
Bardet-Biedl syndrome 3
BARDET-BIEDL SYNDROME 3

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
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:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:620281):
Deafness, autosomal dominant 87
DEAFNESS, AUTOSOMAL DOMINANT 87

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000376
hpo_term: Incomplete partition of the cochlea type II
chpo_term: II型耳蜗分隔不全
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0011387
hpo_term: Enlarged vestibular aqueduct
chpo_term: 前庭导水管扩大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:120970):
CONE-ROD DYSTROPHY 2
Cone-Rod dystrophy 2

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0011509
hpo_term: Macular hyperpigmentation
chpo_term: 黄斑色素沉着
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0012508
hpo_term: Metamorphopsia
chpo_term: 视物变形
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩