TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2591):
Infantile myofibromatosis

Associated phenotypes (HPO):
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000169
hpo_term: Gingival fibromatosis
chpo_term: 牙龈纤维瘤病
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0000934
hpo_term: Chondrocalcinosis
chpo_term: 软骨钙质沉着症
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002894
hpo_term: Neoplasm of the pancreas
chpo_term: 胰腺肿瘤
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0005107
hpo_term: Abnormal sacrum morphology
chpo_term: 骶骨形态异常
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0010614
hpo_term: Fibroma
chpo_term: 纤维瘤
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0100242
hpo_term: Sarcoma
chpo_term: 肉瘤
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0100835
hpo_term: Benign neoplasm of the central nervous system
chpo_term: 中枢神经系统的良性肿瘤
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:1261):
Bonnemann-Meinecke-Reich syndrome
Encephalopathy-intracerebral calcification-retinal degeneration syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:85435):
Rheumatoid factor-positive polyarticular JIA
Juvenile idiopathic rheumatoid factor-positive polyarthritis
Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis with rheumatoid factor

Associated phenotypes (HPO):
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0005764
hpo_term: Polyarticular arthritis
chpo_term: 多发性关节炎
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0002813
hpo_term: Abnormality of limb bone morphology
chpo_term: 四肢骨骼形态异常
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0005187
hpo_term: Progressive joint destruction
chpo_term: 关节渐进性受损
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006252
hpo_term: Interphalangeal joint erosions
chpo_term: 指（趾）间关节侵蚀
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0011117
hpo_term: Abnormality of interleukin secretion
chpo_term: 白介素分泌异常
id: HP:0040311
hpo_term: Symmetric polyarthritis
chpo_term: 对称性多发关节炎
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0010588
hpo_term: Premature epimetaphyseal fusion
chpo_term: 干骺端融合过早
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
Disease (ORPHA:163937):
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
MICPCH
X-linked intellectual disability, Najm type

Associated phenotypes (HPO):
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0034353
hpo_term: Appendicular spasticity
chpo_term: 四肢痉挛
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
Disease (ORPHA:85436):
Psoriasis-related JIA
Psoriasis-related juvenile idiopathic arthritis
Juvenile psoriatic arthritis

Associated phenotypes (HPO):
id: HP:0011118
hpo_term: Abnormality of tumor necrosis factor secretion
chpo_term: 肿瘤坏死因子分泌异常
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001803
hpo_term: Nail pits
chpo_term: 甲凹点
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0005764
hpo_term: Polyarticular arthritis
chpo_term: 多发性关节炎
id: HP:0031090
hpo_term: Finger dactylitis
chpo_term: 手指发炎
id: HP:0031091
hpo_term: Toe dactylitis
chpo_term: 脚趾发炎
id: HP:0040313
hpo_term: Oligoarthritis
chpo_term: 寡关节炎
id: HP:0100686
hpo_term: Enthesitis
chpo_term: 附着点炎
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0003043
hpo_term: Abnormal shoulder morphology
chpo_term: 肩部形态异常
id: HP:0005197
hpo_term: Generalized morning stiffness
chpo_term: 周身性晨僵
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0012122
hpo_term: Anterior uveitis
chpo_term: 前葡萄膜炎
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0025526
hpo_term: Psoriasiform lesion
chpo_term: 银屑病样皮损
id: HP:0001094
hpo_term: Iridocyclitis
chpo_term: 虹膜睫状体炎
id: HP:0001101
hpo_term: Iritis
chpo_term: 虹膜炎
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0010754
hpo_term: Abnormality of the temporomandibular joint
chpo_term: 颞下颌关节异常
id: HP:0012317
hpo_term: Sacroiliac arthritis
chpo_term: 骶髂关节炎
Disease (ORPHA:85438):
Juvenile ERA
Enthesitis-related JIA
Enthesitis-related juvenile idiopathic arthritis

Associated phenotypes (HPO):
id: HP:0040313
hpo_term: Oligoarthritis
chpo_term: 寡关节炎
id: HP:0100536
hpo_term: Abnormality of the fascia
chpo_term: 筋膜异常
id: HP:0100712
hpo_term: Abnormal lumbar spine morphology
chpo_term: 腰椎形态异常
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001832
hpo_term: Abnormal metatarsal morphology
chpo_term: 跖骨形态异常
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0003043
hpo_term: Abnormal shoulder morphology
chpo_term: 肩部形态异常
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0100686
hpo_term: Enthesitis
chpo_term: 附着点炎
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0001384
hpo_term: Abnormal hip joint morphology
chpo_term: 髋关节形态异常
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0004690
hpo_term: Thickened Achilles tendon
chpo_term: 跟腱增厚
id: HP:0005086
hpo_term: Knee osteoarthritis
chpo_term: 膝关节骨性关节炎
id: HP:0008364
hpo_term: Abnormality of the calcaneus
chpo_term: 跟骨异常
id: HP:0008843
hpo_term: Hip osteoarthritis
chpo_term: 髋关节骨关节炎
id: HP:0012317
hpo_term: Sacroiliac arthritis
chpo_term: 骶髂关节炎
id: HP:0003366
hpo_term: Abnormal femoral neck/head morphology
chpo_term: 股骨颈/头形态异常
id: HP:0006217
hpo_term: Limited mobility of proximal interphalangeal joint
chpo_term: 近端指（趾）间关节活动受限
id: HP:0007813
hpo_term: Nongranulomatous uveitis
chpo_term: 非肉芽肿性葡萄膜炎
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0011842
hpo_term: Abnormal skeletal morphology
chpo_term: 骨骼形态异常
id: HP:0011911
hpo_term: Abnormal metacarpophalangeal joint morphology
chpo_term: 掌指关节形态异常
id: HP:0012122
hpo_term: Anterior uveitis
chpo_term: 前葡萄膜炎
id: HP:0031090
hpo_term: Finger dactylitis
chpo_term: 手指发炎
id: HP:0100711
hpo_term: Abnormal thoracic spine morphology
chpo_term: 胸椎形态异常
id: HP:0000794
hpo_term: IgA deposition in the glomerulus
chpo_term: 肾小球IgA沉积
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0006698
hpo_term: Dilatation of the ventricular cavity
chpo_term: 心室腔扩张
Disease (ORPHA:1267):
Botulism

Associated phenotypes (HPO):
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0006597
hpo_term: Diaphragmatic paralysis
chpo_term: 膈肌麻痹
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0010547
hpo_term: Muscle flaccidity
chpo_term: 肌无力
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0009113
hpo_term: Diaphragmatic weakness
chpo_term: 膈肌无力
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:137698):
CMV disease in patients with impaired cell mediated immunity deemed at risk
Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk

Associated phenotypes (HPO):
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0006562
hpo_term: Viral hepatitis
chpo_term: 病毒性肝炎
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0033834
hpo_term: Malaise
chpo_term: 全身乏力不适
id: HP:6001005
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0006515
hpo_term: Interstitial pneumonitis
chpo_term: 间质性肺炎
id: HP:0012486
hpo_term: Myelitis
chpo_term: 脊髓炎
id: HP:0033431
hpo_term: Cytomegalovirus colitis
chpo_term: 巨细胞病毒性结肠炎
id: HP:0033993
hpo_term: Viral encephalitis
chpo_term: 病毒性脑炎
id: HP:0032118
hpo_term: Retinitis
chpo_term: 视网膜炎
Disease (ORPHA:1264):
Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome
Bork syndrome
Tricho-retino-dento-digital syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0001118
hpo_term: Juvenile cataract
chpo_term: 青少年型白内障
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0030056
hpo_term: Uncombable hair
chpo_term: 蓬发
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
id: HP:0010047
hpo_term: Short 5th metacarpal
chpo_term: 第五掌骨短小
Disease (ORPHA:1263):
Boomerang dysplasia

Associated phenotypes (HPO):
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0006492
hpo_term: Aplasia/Hypoplasia of the fibula
chpo_term: 腓骨发育不良/发育不全
id: HP:0008890
hpo_term: Severe short-limb dwarfism
chpo_term: 严重的短肢侏儒症
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化
id: HP:0100856
hpo_term: Poorly ossified vertebrae
chpo_term: 椎骨骨化不良
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002818
hpo_term: Abnormal morphology of the radius
chpo_term: 桡骨形态异常
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0031095
hpo_term: Abnormal humerus morphology
chpo_term: 肱骨形态异常
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0010318
hpo_term: Aplasia/Hypoplasia of the abdominal wall musculature
chpo_term: 腹壁肌群发育不良/发育不全
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
Disease (ORPHA:1262):
Böök syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:352582):
FIME
Familial infantile myoclonic epilepsy
Familial infantile myoclonus epilepsy

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0006891
hpo_term: Thick cerebral cortex
chpo_term: 大脑皮层增厚
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0011171
hpo_term: Simple febrile seizure
chpo_term: 单纯型热性惊厥
id: HP:0011197
hpo_term: EEG with focal spike waves
chpo_term: 脑电图，局灶性棘慢波
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
id: HP:0025373
hpo_term: Interictal EEG abnormality
chpo_term: 发作间期脑电图异常
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
id: HP:0025100
hpo_term: Abnormal hippocampus morphology
chpo_term: 海马形态异常
id: HP:0032388
hpo_term: Periventricular nodular heterotopia
chpo_term: 脑室周围结节性异位症
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
Disease (ORPHA:2593):
Tubular aggregate myopathy

Associated phenotypes (HPO):
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0030200
hpo_term: Fatiguable weakness of proximal limb muscles
chpo_term: 近端肢体肌肉疲劳性无力
id: HP:0100301
hpo_term: Muscle fiber tubular inclusions
chpo_term: 肌纤维管状包涵体
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0003554
hpo_term: Type 2 muscle fiber atrophy
chpo_term: 2型肌纤维萎缩
Disease (ORPHA:2596):
Myopathy and diabetes mellitus

Associated phenotypes (HPO):
id: HP:0003756
hpo_term: Skeletal myopathy
chpo_term: 骨骼肌病
id: HP:0007126
hpo_term: Proximal amyotrophy
chpo_term: 近端肌萎缩
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
id: HP:0012391
hpo_term: Hyporeflexia of upper limbs
chpo_term: 上肢反射减弱
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0012036
hpo_term: Sternocleidomastoid amyotrophy
chpo_term: 胸锁乳突肌萎缩
id: HP:0012507
hpo_term: Weakness of orbicularis oculi muscle
chpo_term: 眼轮匝肌无力
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0031258
hpo_term: Delirium
chpo_term: 谵妄
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
Disease (ORPHA:2597):
Mitochondrial myopathy-lactic acidosis-hearing loss syndrome
Mitochondrial myopathy-lactic acidosis-deafness syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0004320
hpo_term: Vaginal fistula
chpo_term: 阴道瘘
Disease (ORPHA:2598):
MLASA
Mitochondrial myopathy and sideroblastic anemia
Myopathy, lactic acidosis and sideroblastic anemia

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0009055
hpo_term: Generalized limb muscle atrophy
chpo_term: 广泛性四肢肌肉萎缩
id: HP:0009743
hpo_term: Distichiasis
chpo_term: 双行睫