TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:614388):
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1
Encephalopathy due to defective mitochondrial and peroxisomal fission 1

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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: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:0012169
hpo_term: Self-biting
chpo_term: 自咬
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
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:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
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:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
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:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0034298
hpo_term: Elevated circulating hexacosanoic acid concentration
chpo_term: 循环二十六烷酸水平升高
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:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:132100):
PHOTOPAROXYSMAL RESPONSE 1
Photoparoxysmal response 1

Associated phenotypes (HPO):
id: HP:0010852
hpo_term: EEG with photoparoxysmal response
chpo_term: 脑电图，光阵发性反应
id: HP:0003831
hpo_term: Typified by age-related penetrance
chpo_term: 具有年龄相关的外显率特征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:208230):
Arthropathy, progressive pseudorheumatoid, of childhood
PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA

Associated phenotypes (HPO):
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0004576
hpo_term: Sclerotic vertebral endplates
chpo_term: 椎体终板硬化
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0003040
hpo_term: Arthropathy
chpo_term: 关节病
id: HP:0003371
hpo_term: Enlargement of the proximal femoral epiphysis
chpo_term: 股骨近端骨骺膨大
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0010580
hpo_term: Enlarged epiphyses
chpo_term: 骨骺膨大
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0006163
hpo_term: Enlarged metacarpophalangeal joints
chpo_term: 掌指关节膨大
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0004637
hpo_term: Decreased cervical spine mobility
chpo_term: 颈椎活动度下降
id: HP:0006247
hpo_term: Enlarged interphalangeal joints
chpo_term: 指（趾）间关节膨大
Disease (OMIM:301200):
AMELOGENESIS IMPERFECTA, TYPE IE
Amelogenesis imperfecta, type IE

Associated phenotypes (HPO):
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0009102
hpo_term: Anterior open-bite malocclusion
chpo_term: 前牙开咬错位咬合畸形
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0010299
hpo_term: Abnormal dentin morphology
chpo_term: 牙本质形态异常
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
Disease (OMIM:610688):
JOUBERT SYNDROME 6
Joubert syndrome 6

Associated phenotypes (HPO):
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
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:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
id: HP:0011933
hpo_term: Elongated superior cerebellar peduncle
chpo_term: 小脑上脚延长
id: HP:0100951
hpo_term: Enlarged fossa interpeduncularis
chpo_term: 脚间窝扩大
id: HP:0001408
hpo_term: Bile duct proliferation
chpo_term: 胆管增生
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0005957
hpo_term: Breathing dysregulation
chpo_term: 呼吸失调
id: HP:0002404
hpo_term: Thickened superior cerebellar peduncle
chpo_term: 小脑上脚增厚
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:619055):
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12
Mitochondrial complex IV deficiency, nuclear type 12

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
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:0010544
hpo_term: Vertical nystagmus
chpo_term: 垂直眼球震颤
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0011421
hpo_term: Death in adolescence
chpo_term: 青春期死亡
id: HP:0030746
hpo_term: Intraventricular hemorrhage
chpo_term: 脑室内出血
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0025405
hpo_term: Visual fixation instability
chpo_term: 固视不稳定
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:616366):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32
Epileptic encephalopathy, early infantile, 32

Associated phenotypes (HPO):
id: HP:0010848
hpo_term: EEG with spike-wave complexes (2.5-3.5 Hz)
chpo_term: 脑电图，棘慢复合波（2.5-3.5赫兹）
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:610717):
Neutral lipid storage disease with myopathy
NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0006280
hpo_term: Chronic pancreatitis
chpo_term: 慢性胰腺炎
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0009058
hpo_term: Increased muscle lipid content
chpo_term: 肌肉脂肪含量增加
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
Disease (OMIM:143100):
Huntington disease
HUNTINGTON DISEASE

Associated phenotypes (HPO):
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
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:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000726
hpo_term: Dementia
chpo_term: 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: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:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:615109):
Cowden syndrome 6
COWDEN SYNDROME 6

Associated phenotypes (HPO):
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:0000221
hpo_term: Furrowed tongue
chpo_term: 沟裂舌
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
id: HP:0001031
hpo_term: Subcutaneous lipoma
chpo_term: 皮下脂肪瘤
id: HP:0004481
hpo_term: Progressive macrocephaly
chpo_term: 渐进性大头畸形
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0012871
hpo_term: Varicocele
chpo_term: 精索静脉曲张
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0002858
hpo_term: Meningioma
chpo_term: 脑膜瘤
id: HP:0000854
hpo_term: Thyroid adenoma
chpo_term: 甲状腺腺瘤
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001102
hpo_term: Angioid streaks of the fundus
chpo_term: 眼底血管样条纹
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0002253
hpo_term: Colonic diverticula
chpo_term: 结肠憩室
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0010619
hpo_term: Fibroadenoma of the breast
chpo_term: 乳腺纤维腺瘤
id: HP:0004390
hpo_term: Hamartomatous polyposis
chpo_term: 错构瘤性息肉病
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0006740
hpo_term: Transitional cell carcinoma of the bladder
chpo_term: 膀胱移行细胞癌
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:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:602475):
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
Ossification of the posterior longitudinal ligament of spine

Associated phenotypes (HPO):
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0002196
hpo_term: Myelopathy
chpo_term: 脊髓病
id: HP:0011986
hpo_term: Ectopic ossification
chpo_term: 异位性骨化
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:604004):
Megalencephalic leukoencephalopathy with subcortical cysts 1
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001355
hpo_term: Megalencephaly
chpo_term: 巨脑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0007341
hpo_term: Diffuse swelling of cerebral white matter
chpo_term: 脑白质弥漫性肿胀
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0006943
hpo_term: Diffuse spongiform leukoencephalopathy
chpo_term: 弥漫性海绵状白质脑病
Disease (OMIM:147400):
INCISORS, SHOVEL-SHAPED
Incisors, shovel-shaped

Associated phenotypes (HPO):
id: HP:0010982
hpo_term: Polygenic inheritance
chpo_term: 多基因遗传
id: HP:0006358
hpo_term: Shovel-shaped maxillary central incisors
chpo_term: 铲形上门齿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619733):
Inclusion body myopathy and brain white matter abnormalities
INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0033685
hpo_term: Fiber type grouping
chpo_term: 纤维类型分组
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0100297
hpo_term: Increased endomysial connective tissue
chpo_term: 肌内膜结缔组织增加
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0009023
hpo_term: Abdominal wall muscle weakness
chpo_term: 腹壁肌无力
id: HP:0034045
hpo_term: Angulated muscle fibers
chpo_term: 成角的肌纤维
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0030007
hpo_term: EMG: positive sharp waves
chpo_term: 肌电图: 正锐波
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
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:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0003419
hpo_term: Low back pain
chpo_term: 下背部疼痛
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:616400):
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2
Palmoplantar keratoderma, nonepidermolytic, focal 2

Associated phenotypes (HPO):
id: HP:0005588
hpo_term: Patchy palmoplantar hyperkeratosis
chpo_term: 斑片状掌跖角化病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619727):
Craniotubular dysplasia, Ikegawa type
CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0011939
hpo_term: 3-4 finger cutaneous syndactyly
chpo_term: 第三-四指皮肤性并指
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0100252
hpo_term: Diaphyseal dysplasia
chpo_term: 骨干发育不良
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0100865
hpo_term: Broad ischia
chpo_term: 坐骨增宽
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002694
hpo_term: Sclerosis of skull base
chpo_term: 颅底硬化
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
id: HP:0007807
hpo_term: Optic nerve compression
chpo_term: 视神经受压
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0030320
hpo_term: Increased intervertebral space
chpo_term: 椎间隙增宽
id: HP:0410280
hpo_term: Pediatric onset
chpo_term: 童年发病
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000667
hpo_term: Phthisis bulbi
chpo_term: 眼萎缩
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
Disease (OMIM:616414):
Autoimmune interstitial lung, joint, and kidney disease
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE

Associated phenotypes (HPO):
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0032979
hpo_term: Hemosiderin-laden macrophages in bronchoalveolar fluid
chpo_term: 支气管肺泡液中载血铁蛋白巨噬细胞
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0040223
hpo_term: Pulmonary hemorrhage
chpo_term: 肺出血
id: HP:0012574
hpo_term: Mesangial hypercellularity
chpo_term: 肾小球系膜增生
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0008653
hpo_term: Crescentic glomerulonephritis
chpo_term: 新月体肾小球肾炎
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
Disease (OMIM:274700):
Thyroid hormonogenesis, genetic defect in, 3
THYROID DYSHORMONOGENESIS 3

Associated phenotypes (HPO):
id: HP:0002890
hpo_term: Thyroid carcinoma
chpo_term: 甲状腺癌
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008223
hpo_term: Compensated hypothyroidism
chpo_term: 代偿性甲状腺功能减退症
id: HP:0012559
hpo_term: Increased T3/T4 ratio
chpo_term: T3/T4比值升高
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍