TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:79098):
Sympathetic uveitis
Sympathetic ophthalmia

Associated phenotypes (HPO):
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0011531
hpo_term: Vitritis
chpo_term: 玻璃体炎
id: HP:0025341
hpo_term: Corneal keratic precipitates
chpo_term: 角膜后沉着物
id: HP:0025560
hpo_term: Anterior chamber cells
chpo_term: 前房细胞
id: HP:0030823
hpo_term: Scleral thickening
chpo_term: 巩膜增厚
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002290
hpo_term: Poliosis
chpo_term: 白发
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0007680
hpo_term: Depigmented fundus
chpo_term: 眼底脱色素
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011484
hpo_term: Posterior synechiae of the anterior chamber
chpo_term: 虹膜后粘连
id: HP:0012123
hpo_term: Posterior uveitis
chpo_term: 后葡萄膜炎
id: HP:0040049
hpo_term: Macular edema
chpo_term: 黄斑水肿
id: HP:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:6000710
Disease (ORPHA:93387):
Brachydactyly type E

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0005863
hpo_term: Type E brachydactyly
chpo_term: E型短指（趾）
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010076
hpo_term: Aplasia/Hypoplasia of the distal phalanx of the hallux
chpo_term: 拇趾末节趾骨发育不良或发育不全
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0100560
hpo_term: Upper limb asymmetry
chpo_term: 上肢不对称
Disease (ORPHA:79099):
IGDA
Interstitial granulomatous dermatitis with arthritis
Ackerman dermatitis syndrome
Ackerman syndrome

Associated phenotypes (HPO):
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
Disease (ORPHA:93384):
Brachydactyly type C

Associated phenotypes (HPO):
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0009373
hpo_term: Type C brachydactyly
chpo_term: C型短指
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0009495
hpo_term: Pseudoepiphysis of the 2nd finger
chpo_term: 第二指假骨骺
id: HP:0009606
hpo_term: Complete duplication of distal phalanx of the thumb
chpo_term: 拇指末节指骨完全重复
id: HP:0009684
hpo_term: Stippling of the epiphysis of the distal phalanx of the thumb
chpo_term: 拇指末节指骨骨骺点状钙化
id: HP:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合
id: HP:0010026
hpo_term: Aplasia/Hypoplasia of the 1st metacarpal
chpo_term: 第一掌骨发育不良或发育不全
id: HP:0010508
hpo_term: Metatarsus valgus
chpo_term: 跖骨外翻
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
Disease (ORPHA:293173):
Toxic pustuloderma
Pustular drug eruption
AGEP
Acute generalized exanthematous pustulosis

Associated phenotypes (HPO):
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0032022
hpo_term: Eosinophilic dermal infiltration
chpo_term: 嗜酸性粒细胞皮肤浸润
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0031236
hpo_term: Predominantly dermal neutrophilic infiltrate
chpo_term: 嗜中性粒细胞为主真皮浸润
id: HP:0100792
hpo_term: Acantholysis
chpo_term: 皮肤棘层松解
id: HP:0100825
hpo_term: Cheilitis
chpo_term: 唇炎
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
Disease (ORPHA:93388):
Brachydactyly type A1
Brachydactyly, Farabee type

Associated phenotypes (HPO):
id: HP:0001204
hpo_term: Distal symphalangism of hands
chpo_term: 远端指间关节融合
id: HP:0001230
hpo_term: Broad metacarpals
chpo_term: 掌骨变宽
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
Disease (ORPHA:353327):
Congenital myasthenic syndromes with glycosylation defect

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0003403
hpo_term: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
chpo_term: EMG：复合肌肉动作电位对重复神经刺激的反应递减
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0030191
hpo_term: Abnormal peripheral nervous system synaptic transmission
chpo_term: 周围神经系统突触传递异常
id: HP:0030202
hpo_term: Favorable response of weakness to acetylcholine esterase inhibitors
chpo_term: 肌无力对乙酰胆碱酯酶抑制剂的反应好
id: HP:0030205
hpo_term: Increased jitter at single fiber EMG
chpo_term: 单纤维肌电图时抖动增加
id: HP:0100301
hpo_term: Muscle fiber tubular inclusions
chpo_term: 肌纤维管状包涵体
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0009028
hpo_term: Generalized weakness of limb muscles
chpo_term: 广泛性四肢肌肉无力
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
Disease (ORPHA:261204):
Trisomy 16p11.2p12.2
16p11.2p12.2 microduplication syndrome
Dup(16)(p11.2p12.2)

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
Disease (ORPHA:730):
Autosomal dominant polycystic kidney disease
ADPKD

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0012591
hpo_term: Abnormal urinary electrolyte concentration
chpo_term: 尿电解质浓度异常
id: HP:0012592
hpo_term: Albuminuria
chpo_term: 蛋白尿
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0030157
hpo_term: Flank pain
chpo_term: 侧腹疼痛
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000791
hpo_term: Uric acid nephrolithiasis
chpo_term: 肾尿酸结石
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001737
hpo_term: Pancreatic cysts
chpo_term: 胰腺囊肿
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0006557
hpo_term: Polycystic liver disease
chpo_term: 多囊性肝病
id: HP:0008672
hpo_term: Calcium oxalate nephrolithiasis
chpo_term: 草酸钙肾结石
id: HP:0011004
hpo_term: Abnormal systemic arterial morphology
chpo_term: 全身动脉形态异常
id: HP:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0012330
hpo_term: Pyelonephritis
chpo_term: 肾盂肾炎
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0011760
hpo_term: Pituitary growth hormone cell adenoma
chpo_term: 垂体生长激素腺瘤
Disease (ORPHA:92050):
Intestinal epithelial dysplasia
Non-syndromic congenital tufting enteropathy
Congenital tufting enteropathy
IED

Associated phenotypes (HPO):
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0005208
hpo_term: Secretory diarrhea
chpo_term: 分泌性腹泻
id: HP:0025129
hpo_term: Abnormal small intestinal mucosa morphology
chpo_term: 小肠粘膜形态异常
id: HP:0032486
hpo_term: Elevated fecal osmolality
chpo_term: 粪便渗透压升高
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0025090
hpo_term: Abnormal large intestinal mucosa morphology
chpo_term: 大肠黏膜形态异常
id: HP:0200020
hpo_term: Corneal erosion
chpo_term: 角膜糜烂
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0011859
hpo_term: Punctate keratitis
chpo_term: 点状角膜炎
Disease (ORPHA:93383):
Brachydactyly type B

Associated phenotypes (HPO):
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001817
hpo_term: Absent fingernail
chpo_term: 指甲缺损
id: HP:0005831
hpo_term: Type B brachydactyly
chpo_term: B型短指（趾）
id: HP:0008083
hpo_term: 2nd-5th toe middle phalangeal hypoplasia
chpo_term: 第二-五趾中间趾骨发育不全
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
Disease (ORPHA:1184):
Ataxia-photosensitivity-short stature syndrome
Fenton-Wilkinson-Toselano syndrome

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:1183):
Paraneoplastic opsoclonus-myoclonus
Paraneoplastic opsoclonus-myoclonus-ataxia syndrome
OMS
Dancing eye syndrome
OMA syndrome
Kinsbourne syndrome
Ataxo-opso-myoclonus syndrome
Opsoclonus-myoclonus syndrome
Opsoclonus-myoclonus-ataxia syndrome
POMA syndrome
Dancing eye-dancing feet syndrome

Associated phenotypes (HPO):
id: HP:0000570
hpo_term: Abnormal saccadic eye movements
chpo_term: 眼球扫视运动异常
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0010543
hpo_term: Opsoclonus
chpo_term: 斜视眼阵挛
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0003006
hpo_term: Neuroblastoma
chpo_term: 神经母细胞瘤
id: HP:0045084
hpo_term: Limb myoclonus
chpo_term: 肢体肌阵挛
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:5000002
hpo_term: Anti-Amphiphysin antibody
chpo_term: 抗两性蛋白抗体
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0012226
hpo_term: Ovarian teratoma
chpo_term: 卵巢畸胎瘤
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0030357
hpo_term: Small cell lung carcinoma
chpo_term: 小细胞肺癌
id: HP:0031035
hpo_term: Chronic infection
chpo_term: 慢性感染
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
Disease (ORPHA:1182):
Spastic ataxia with congenital miosis
SPAX7
Autosomal dominant spastic ataxia type 7

Associated phenotypes (HPO):
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0007728
hpo_term: Congenital miosis
chpo_term: 先天性瞳孔缩小
Disease (ORPHA:1180):
Ataxia-hypogonadism-choroidal dystrophy syndrome
Boucher-Neuhäuser syndrome

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0001135
hpo_term: Chorioretinal dystrophy
chpo_term: 脉络膜视网膜营养不良
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
Disease (ORPHA:254913):
Isolated mitochondrial respiratory chain complex V deficiency
Isolated ATP synthase deficiency

Associated phenotypes (HPO):
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
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: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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
Disease (ORPHA:140936):
Ectodermal dysplasia-acanthosis nigricans syndrome
Lelis syndrome

Associated phenotypes (HPO):
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000153
hpo_term: Abnormality of the mouth
chpo_term: 嘴部异常
id: HP:0000221
hpo_term: Furrowed tongue
chpo_term: 沟裂舌
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0010802
hpo_term: Perioral hyperpigmentation
chpo_term: 口周色素沉着过度
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0007646
hpo_term: Absent lower eyelashes
chpo_term: 下睫毛缺失
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0011367
hpo_term: Yellow nails
chpo_term: 黄指甲
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
Disease (ORPHA:140941):
Short stature due to primary acid-labile subunit deficiency

Associated phenotypes (HPO):
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0030353
hpo_term: Decreased serum insulin-like growth factor 1
chpo_term: 血清胰岛素样生长因子-1（IGF1）水平降低