TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:607596):
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A
Pontocerebellar hypoplasia type 1A

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
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:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0011461
hpo_term: Fetal onset
chpo_term: 胎儿期发病
id: HP:0200147
hpo_term: Neuronal loss in basal ganglia
chpo_term: 基底神经节神经元丢失
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0006850
hpo_term: Hypoplasia of the ventral pons
chpo_term: 腹侧桥脑发育不良
id: HP:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0004878
hpo_term: Intercostal muscle weakness
chpo_term: 肋间肌无力
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0006999
hpo_term: Basal ganglia gliosis
chpo_term: 基底节胶质细胞增生
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
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:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002398
hpo_term: Degeneration of anterior horn cells
chpo_term: 前角细胞变性
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:606688):
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
Spongiform encephalopathy with neuropsychiatric features

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
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:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0006790
hpo_term: Cerebral cortex with spongiform changes
chpo_term: 大脑皮质海绵状改变
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000710
hpo_term: Hyperorality
chpo_term: 口欲亢进
Disease (OMIM:120400):
COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY
Coloboma of macula with type B brachydactyly

Associated phenotypes (HPO):
id: HP:0005831
hpo_term: Type B brachydactyly
chpo_term: B型短指（趾）
id: HP:0005807
hpo_term: Absent distal phalanges
chpo_term: 远节指骨缺失
id: HP:0009642
hpo_term: Broad distal phalanx of the thumb
chpo_term: 拇指末节指骨增宽
id: HP:0009611
hpo_term: Bifid distal phalanx of the thumb
chpo_term: 拇指末节指骨部分重复
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
Disease (OMIM:620897):
Ovarian dysgenesis 11

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0010463
hpo_term: Aplasia of the ovary
chpo_term: 卵巢发育不全
id: HP:0011969
hpo_term: Elevated circulating luteinizing hormone level
chpo_term: 血液黄体生成素水平升高
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0012569
hpo_term: Delayed menarche
chpo_term: 月经初潮延迟
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0031103
hpo_term: Decreased antimullerian hormone level
chpo_term: 抗苗勒氏管激素水平降低
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:601859):
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
Autoimmune lymphoproliferative syndrome

Associated phenotypes (HPO):
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0003453
hpo_term: Antineutrophil antibody positivity
chpo_term: 抗中性粒细胞抗体阳性
id: HP:0003454
hpo_term: Platelet antibody positive
chpo_term: 血小板抗体阳性
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001904
hpo_term: Neutropenia in presence of anti-neutropil antibodies
chpo_term: 抗中性粒细胞抗体阳性的中性粒细胞减少症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002731
hpo_term: Decreased lymphocyte apoptosis
chpo_term: 淋巴细胞凋亡减少
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0002853
hpo_term: Increased proportion of HLA DR+ T cells
chpo_term: HLA-DR阳性T细胞比例多
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0002730
hpo_term: Chronic noninfectious lymphadenopathy
chpo_term: 慢性非感染性淋巴结肿大
id: HP:0002851
hpo_term: Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
chpo_term: CD4和CD8双阴性的α-β 调节性 T 细胞比例增高
id: HP:0002972
hpo_term: Reduced delayed hypersensitivity
chpo_term: 迟发型超敏反应降低
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0003262
hpo_term: Smooth muscle antibody positivity
chpo_term: 平滑肌抗体阳性
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0002729
hpo_term: Follicular hyperplasia
chpo_term: 淋巴滤泡增生
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0003613
hpo_term: Antiphospholipid antibody positivity
chpo_term: 抗磷脂抗体阳性
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0004844
hpo_term: Coombs-positive hemolytic anemia
chpo_term: Coombs试验阳性溶血性贫血
Disease (OMIM:613285):
Deafness, autosomal recessive 25
DEAFNESS, AUTOSOMAL RECESSIVE 25

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:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:124100):
Danubian endemic familial nephropathy
DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY

Associated phenotypes (HPO):
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
Disease (OMIM:217200):
CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET
Convulsive disorder, familial, with prenatal or early onset

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:615838):
Mitochondrial complex III deficiency, nuclear type 8
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
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:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0045045
hpo_term: Elevated circulating acylcarnitine concentration
chpo_term: 血浆酰基肉碱水平升高
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
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:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
id: HP:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
Disease (OMIM:251255):
Jawad syndrome
JAWAD SYNDROME

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004220
hpo_term: Short middle phalanx of the 5th finger
chpo_term: 第五指中节指骨短
id: HP:0004692
hpo_term: 4-5 toe syndactyly
chpo_term: 第四、五脚趾并趾
id: HP:0005780
hpo_term: Absent fourth finger distal interphalangeal crease
chpo_term: 第四指远端指节间褶痕缺失
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006216
hpo_term: Single interphalangeal crease of fifth finger
chpo_term: 第五指单个皮褶
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
Disease (OMIM:613291):
Bile acid malabsorption, primary
BILE ACID MALABSORPTION, PRIMARY

Associated phenotypes (HPO):
id: HP:0002630
hpo_term: Fat malabsorption
chpo_term: 脂肪吸收障碍
id: HP:0034043
hpo_term: Increased fecal bile acid
chpo_term: 粪便胆汁酸升高
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:610798):
IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN
Immunodeficiency due to defect in mapbp-interacting protein

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0006538
hpo_term: Recurrent bronchopulmonary infections
chpo_term: 反复支气管肺感染
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:213700):
Cerebrotendinous xanthomatosis
CEREBROTENDINOUS XANTHOMATOSIS

Associated phenotypes (HPO):
id: HP:0100291
hpo_term: Abnormality of central somatosensory evoked potentials
chpo_term: 异常的中枢体感诱发电位
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:6001007
id: HP:0010845
hpo_term: EEG with generalized slow activity
chpo_term: 脑电图，广泛性慢活动
id: HP:0031290
hpo_term: Tuberous xanthoma
chpo_term: 结节性黄瘤
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0007024
hpo_term: Pseudobulbar paralysis
chpo_term: 假性球麻痹
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0003107
hpo_term: Abnormal circulating cholesterol concentration
chpo_term: 胆固醇代谢异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000991
hpo_term: Xanthomatosis
chpo_term: 黄瘤病
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0003482
hpo_term: EMG: axonal abnormality
chpo_term: 肌电图：轴突异常
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0010874
hpo_term: Tendon xanthomatosis
chpo_term: 腱黄瘤病
id: HP:6000821
id: HP:6000203
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0100321
hpo_term: Abnormal dentate nucleus morphology
chpo_term: 齿状核形态异常
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001658
hpo_term: Myocardial infarction
chpo_term: 心肌梗死
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
Disease (OMIM:619964):
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Developmental delay, impaired speech, and behavioral abnormalities

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
Disease (OMIM:614298):
Neurodegeneration with brain iron accumulation 4
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4

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: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: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:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0012048
hpo_term: Oromandibular dystonia
chpo_term: 口下颌肌张力障碍
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002454
hpo_term: Eye of the tiger anomaly of globus pallidus
chpo_term: 苍白球虎眼征
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0100315
hpo_term: Lewy bodies
chpo_term: 路易体
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
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:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
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
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
Disease (OMIM:604060):
DEAFNESS, AUTOSOMAL RECESSIVE 20
Deafness, autosomal recessive 20

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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
Disease (OMIM:226750):
KOHLSCHUTTER-TONZ SYNDROME
Kohlschutter-Tonz syndrome

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
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:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:618449):
Ciliary dyskinesia, primary, 41
CILIARY DYSKINESIA, PRIMARY, 41

Associated phenotypes (HPO):
id: HP:0031603
hpo_term: Impaired nasal mucociliary clearance
chpo_term: 鼻黏膜纤毛清除功能异常
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0012208
hpo_term: Immotile sperm
chpo_term: 不动精子症
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎