TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:620675):
Leukodystrophy, hypomyelinating, 27
LEUKODYSTROPHY, HYPOMYELINATING, 27

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
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:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
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:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:601650):
Paragangliomas 2
PARAGANGLIOMAS 2

Associated phenotypes (HPO):
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0006715
hpo_term: Glomus tympanicum paraganglioma
chpo_term: 鼓室副神经节瘤
id: HP:0008629
hpo_term: Pulsatile tinnitus
chpo_term: 搏动性耳鸣
id: HP:0003001
hpo_term: Glomus jugular tumor
chpo_term: 颈静脉球瘤
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0030074
hpo_term: Chemodectoma
chpo_term: 化学感受器瘤
id: HP:0001686
hpo_term: Loss of voice
chpo_term: 失声
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002886
hpo_term: Vagal paraganglioma
chpo_term: 迷走神经副神经节瘤
Disease (OMIM:615625):
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE
Spastic paraplegia 72, autosomal recessive

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0031993
hpo_term: Hoffmann sign
chpo_term: Hoffmann征
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:186570):
TARSAL-CARPAL COALITION SYNDROME
Tarsal-Carpal coalition syndrome

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000002
hpo_term: Abnormality of body height
chpo_term: 身高异常
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0003041
hpo_term: Humeroradial synostosis
chpo_term: 肱桡骨性融合
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0010034
hpo_term: Short 1st metacarpal
chpo_term: 第一掌骨短
id: HP:0006152
hpo_term: Proximal symphalangism of hands
chpo_term: 近端指间关节融合
id: HP:0009466
hpo_term: Radial deviation of finger
chpo_term: 手指桡侧偏斜
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0006147
hpo_term: Progressive fusion 2nd-5th pip joints
chpo_term: 进行性第二-五指间关节融合
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001204
hpo_term: Distal symphalangism of hands
chpo_term: 远端指间关节融合
Disease (OMIM:613254):
TUBEROUS SCLEROSIS 2
Tuberous sclerosis-2

Associated phenotypes (HPO):
id: HP:0009717
hpo_term: Cortical tubers
chpo_term: 皮质结节
id: HP:0009716
hpo_term: Subependymal nodules
chpo_term: 室管膜下结节
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0009719
hpo_term: Hypomelanotic macule
chpo_term: 色素脱失斑
id: HP:0009718
hpo_term: Subependymal giant-cell astrocytoma
chpo_term: 室管膜下巨细胞星形细胞瘤
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:0010762
hpo_term: Chordoma
chpo_term: 脊索瘤
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0009720
hpo_term: Adenoma sebaceum
chpo_term: 皮脂腺腺瘤
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0006772
hpo_term: Renal angiomyolipoma
chpo_term: 肾血管平滑肌脂肪瘤
id: HP:0009722
hpo_term: Dental enamel pits
chpo_term: 牙釉质凹陷
id: HP:0009721
hpo_term: Shagreen patch
chpo_term: 鲨鱼皮样斑
id: HP:0009724
hpo_term: Subungual fibromas
chpo_term: 甲下纤维瘤
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0007206
hpo_term: Hemimegalencephaly
chpo_term: 偏侧巨脑/偏侧巨脑畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0009727
hpo_term: Achromatic retinal patches
chpo_term: 无色素性视网膜斑块
id: HP:0010615
hpo_term: Angiofibromas
chpo_term: 血管纤维瘤
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0009729
hpo_term: Cardiac rhabdomyoma
chpo_term: 心脏横纹肌瘤
id: HP:0005564
hpo_term: Absence of renal corticomedullary differentiation
chpo_term: 肾皮髓质分界消失
id: HP:0005584
hpo_term: Renal cell carcinoma
chpo_term: 肾细胞癌
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0012798
hpo_term: Pulmonary lymphangiomyomatosis
chpo_term: 肺淋巴管肌瘤病
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0009594
hpo_term: Retinal hamartoma
chpo_term: 视网膜错构瘤
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0001716
hpo_term: Wolff-Parkinson-White syndrome
chpo_term: 预激综合征
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000169
hpo_term: Gingival fibromatosis
chpo_term: 牙龈纤维瘤病
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0002888
hpo_term: Ependymoma
chpo_term: 室管膜瘤
id: HP:0009734
hpo_term: Optic nerve glioma
chpo_term: 视神经胶质瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:251290):
PSEUDO-TORCH SYNDROME 1
Band-Like calcification with simplified gyration and polymicrogyria

Associated phenotypes (HPO):
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
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:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:606895):
Symphalangism, distal, with microdontia, dental pulp stones, and narrowedzygomatic arch
SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED ZYGOMATIC ARCH

Associated phenotypes (HPO):
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0003771
hpo_term: Pulp calcification
chpo_term: 牙髓钙化
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0004253
hpo_term: Absent trapezium
chpo_term: 大多角骨缺如
id: HP:0011835
hpo_term: Absent scaphoid
chpo_term: 舟骨缺如
id: HP:0010259
hpo_term: Cone-shaped epiphyses of the middle phalanges of the hand
chpo_term: 中节指骨锥形骨骺
id: HP:0001859
hpo_term: Distal foot symphalangism
chpo_term: 远端趾关节融合
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0009843
hpo_term: Aplasia/Hypoplasia of the middle phalanges of the hand
chpo_term: 中节指骨发育不良/发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0006106
hpo_term: Absent trapezoid bone
chpo_term: 小多角骨缺如
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0001204
hpo_term: Distal symphalangism of hands
chpo_term: 远端指间关节融合
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
Disease (OMIM:614249):
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18
Mental retardation, autosomal recessive 18

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002474
hpo_term: Expressive language delay
chpo_term: 语言表达延迟
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0007030
hpo_term: Nonprogressive encephalopathy
chpo_term: 非进行性脑病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:165199):
Optic atrophy, hearing loss, and peripheral neuropathy, autosomaldominant
OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
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:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
Disease (OMIM:615157):
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
Mitochondrial complex III deficiency, nuclear type 2

Associated phenotypes (HPO):
id: HP:0002542
hpo_term: Olivopontocerebellar atrophy
chpo_term: 橄榄桥脑小脑萎缩
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
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:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0010521
hpo_term: Gait apraxia
chpo_term: 步态失用
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
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:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0007289
hpo_term: Limb fasciculations
chpo_term: 肢体肌束颤动
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
id: HP:0011924
hpo_term: Decreased activity of mitochondrial complex III
chpo_term: 线粒体复合物III活性降低
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0000764
hpo_term: Peripheral axonal degeneration
chpo_term: 外围神经轴索变性
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP: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
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0034332
hpo_term: Cognitive regression
chpo_term: 认知衰退
id: HP:0000745
hpo_term: Diminished motivation
chpo_term: 动机减弱
Disease (OMIM:615631):
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
Anemia, congenital dyserythropoietic, type Ib

Associated phenotypes (HPO):
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0010972
hpo_term: Anemia of inadequate production
chpo_term: 红细胞 生成不足性贫血
id: HP:0011273
hpo_term: Anisocytosis
chpo_term: 红细胞大小不均
id: HP:0012132
hpo_term: Erythroid hyperplasia
chpo_term: 红系增生
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0034278
hpo_term: Multinucleated erythroblast
chpo_term: 多核成红血细胞
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0004447
hpo_term: Poikilocytosis
chpo_term: 异形性红细胞
Disease (OMIM:617026):
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
Pontocerebellar hypoplasia, type 2F

Associated phenotypes (HPO):
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0012510
hpo_term: Extra-axial cerebrospinal fluid accumulation
chpo_term: 轴外脑脊液蓄积
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0034353
hpo_term: Appendicular spasticity
chpo_term: 四肢痉挛
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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
Disease (OMIM:608106):
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
Immunodeficiency with hyper IgM, type 5

Associated phenotypes (HPO):
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0200117
hpo_term: Recurrent upper and lower respiratory tract infections
chpo_term: 上下呼吸道反复感染
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000031
hpo_term: Epididymitis
chpo_term: 附睾炎
id: HP:0002959
hpo_term: Impaired Ig class switch recombination
chpo_term: 免疫球蛋白类别转换重组障碍
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
Disease (OMIM:141749):
Fetal hemoglobin quantitative trait locus 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1

Associated phenotypes (HPO):
id: HP:0011904
hpo_term: Persistence of hemoglobin F
chpo_term: 胎儿血红蛋白F持续存在
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:609218):
Foveal hypoplasia 2
FOVEAL HYPOPLASIA 2

Associated phenotypes (HPO):
id: HP:0025551
hpo_term: Optic nerve misrouting
chpo_term: 视神经错路
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001492
hpo_term: Axenfeld anomaly
chpo_term: Axenfeld 综合征
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000627
hpo_term: Posterior embryotoxon
chpo_term: 后胚胎环
id: HP:0008001
hpo_term: Foveal hyperpigmentation
chpo_term: 黄斑色素沉着
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:0001137
hpo_term: Alternating esotropia
chpo_term: 交替性内斜视
Disease (OMIM:214900):
Cholestasis-Lymphedema syndrome
CHOLESTASIS-LYMPHEDEMA SYNDROME

Associated phenotypes (HPO):
id: HP:0001055
hpo_term: Erysipelas
chpo_term: 丹毒
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006566
hpo_term: Neonatal cholestatic liver disease
chpo_term: 新生儿胆汁淤积性肝病
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:263550):
POLYMYOCLONUS, INFANTILE
Polymyoclonus, infantile

Associated phenotypes (HPO):
id: HP:0007295
hpo_term: Chaotic rapid conjugate ocular movements
chpo_term: 快速共轭眼球运动异常
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:615619):
CHOLANGIOCARCINOMA
CHOLANGIOCARCINOMA, SUSCEPTIBILITY TO

Associated phenotypes (HPO):
id: HP:0030153
hpo_term: Cholangiocarcinoma
chpo_term: 胆管癌