TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:619183):
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4
Proteasome-associated autoinflammatory syndrome 4

Associated phenotypes (HPO):
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0009064
hpo_term: Generalized lipodystrophy
chpo_term: 全身脂肪营养不良
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0033331
hpo_term: Acute phase response
chpo_term: 急性期反应
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0012490
hpo_term: Panniculitis
chpo_term: 脂膜炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:617810):
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15
Glycosylphosphatidylinositol biosynthesis defect 15

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
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:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:608930):
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
Myasthenic syndrome, congenital, 1B, fast-channel

Associated phenotypes (HPO):
id: HP:0003554
hpo_term: Type 2 muscle fiber atrophy
chpo_term: 2型肌纤维萎缩
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0003402
hpo_term: Decreased miniature endplate potentials
chpo_term: 微终板电位降低
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:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0030208
hpo_term: Anti-acetylcholine receptor antibody positivity
chpo_term: 抗乙酰胆碱受体抗体阳性
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
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:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
Disease (OMIM:131440):
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
Myeloproliferative disorder, chronic, with eosinophilia

Associated phenotypes (HPO):
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0006782
hpo_term: Malignant eosinophil proliferation
chpo_term: 嗜酸性粒细胞恶性增殖
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0005547
hpo_term: Myeloproliferative disorder
chpo_term: 骨髓增生性疾病
Disease (OMIM:210350):
BIEMOND SYNDROME II
Biemond syndrome II

Associated phenotypes (HPO):
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:310350):
Myelolymphatic insufficiency
MYELOLYMPHATIC INSUFFICIENCY

Associated phenotypes (HPO):
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0011447
hpo_term: Hyposegmentation of neutrophil nuclei
chpo_term: 中性粒细胞核低分叶
Disease (OMIM:300143):
MENTAL RETARDATION, X-LINKED 21
Mental retardation, X-linked 21

Associated phenotypes (HPO):
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0009909
hpo_term: Uplifted earlobe
chpo_term: 耳垂方向异常
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:150900):
LENTIGINES

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:127550):
Dyskeratosis congenita, autosomal dominant, 1
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1

Associated phenotypes (HPO):
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001807
hpo_term: Ridged nail
chpo_term: 甲纵嵴
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002639
hpo_term: Budd-Chiari syndrome
chpo_term: Budd-Chiari综合征
id: HP:0001803
hpo_term: Nail pits
chpo_term: 甲凹点
id: HP:0007588
hpo_term: Reticular hyperpigmentation
chpo_term: 网状色素沉着
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0006515
hpo_term: Interstitial pneumonitis
chpo_term: 间质性肺炎
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0001915
hpo_term: Aplastic anemia
chpo_term: 再生障碍性贫血
id: HP:0002605
hpo_term: Hepatic necrosis
chpo_term: 肝坏死
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0002745
hpo_term: Oral leukoplakia
chpo_term: 口腔白斑
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
Disease (OMIM:609384):
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C
Fibrosis of extraocular muscles, congenital, 3B

Associated phenotypes (HPO):
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0001491
hpo_term: Congenital fibrosis of extraocular muscles
chpo_term: 先天性眼外肌纤维化
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
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:0007867
hpo_term: Restrictive partial external ophthalmoplegia
chpo_term: 限制性部分眼外肌麻痹
id: HP:0007911
hpo_term: Congenital bilateral ptosis
chpo_term: 先天性双侧上睑下垂
Disease (OMIM:614458):
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0012402
hpo_term: Increased urine alpha-ketoglutarate concentration
chpo_term: 尿α-酮戊二酸浓度增高
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0020221
hpo_term: Clonic seizure
chpo_term: 阵挛性癫痫发作
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:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002131
hpo_term: Episodic ataxia
chpo_term: 发作性共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:112500):
BRACHYDACTYLY, TYPE A1
Brachydactyly, type A1

Associated phenotypes (HPO):
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001032
hpo_term: Absent distal interphalangeal creases
chpo_term: 远端指间关节皮肤皱褶缺如
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0005194
hpo_term: Flattened metatarsal heads
chpo_term: 扁平跖骨头
id: HP:0010107
hpo_term: Short proximal phalanx of hallux
chpo_term: 拇趾近节指骨短
id: HP:0010194
hpo_term: Aplasia/Hypoplasia of the middle phalanges of the toes
chpo_term: 中节趾骨发育不全或发育不良
id: HP:0009462
hpo_term: Radial deviation of the 3rd finger
chpo_term: 第三指桡侧偏
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0006165
hpo_term: Proportionate shortening of all digits
chpo_term: 所有指（趾）等比缩短
id: HP:0009467
hpo_term: Radial deviation of the 2nd finger
chpo_term: 第二指桡侧偏斜
id: HP:0009279
hpo_term: Radial deviation of the 4th finger
chpo_term: 第四指桡向偏斜
id: HP:0006146
hpo_term: Broad metacarpal epiphyses
chpo_term: 掌骨骨骺变宽
id: HP:0009843
hpo_term: Aplasia/Hypoplasia of the middle phalanges of the hand
chpo_term: 中节指骨发育不良/发育不全
id: HP:0006213
hpo_term: Thin proximal phalanges with broad epiphyses of the hand
chpo_term: 近端指骨变薄而骨骺增宽
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0006236
hpo_term: Slender metacarpals
chpo_term: 掌骨修长
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0009638
hpo_term: Short proximal phalanx of thumb
chpo_term: 拇指近节指骨缩短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001204
hpo_term: Distal symphalangism of hands
chpo_term: 远端指间关节融合
Disease (OMIM:618504):
Intellectual developmental disorder, autosomal recessive 71
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0004392
hpo_term: Prune belly
chpo_term: 梅干腹
id: HP:0001090
hpo_term: Abnormally large globe
chpo_term: 大眼球
id: HP:0011094
hpo_term: Increased overbite
chpo_term: 过咬合
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0034454
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:617637):
Deafness, autosomal recessive 106
DEAFNESS, AUTOSOMAL RECESSIVE 106

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:610158):
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2
Corneal dystrophy, fuchs endothelial, 2

Associated phenotypes (HPO):
id: HP:0007705
hpo_term: Corneal degeneration
chpo_term: 角膜变性
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0012038
hpo_term: Corneal guttata
chpo_term: 角膜液滴样病变
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:109120):
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000558
hpo_term: Rieger anomaly
chpo_term: Rieger综合征
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0007886
hpo_term: Absent extraocular muscles
chpo_term: 眼外肌缺如
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0006958
hpo_term: Abnormal auditory evoked potentials
chpo_term: 听觉诱发电位异常
id: HP:0002690
hpo_term: Large sella turcica
chpo_term: 大蝶鞍
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0007873
hpo_term: Abnormally prominent line of Schwalbe
chpo_term: Schwalbe线异常突出
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
Disease (OMIM:300816):
Combined oxidative phosphorylation deficiency 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0007178
hpo_term: Motor polyneuropathy
chpo_term: 多发性运动神经病
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:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
Disease (OMIM:612997):
Spermatogenic failure 7
SPERMATOGENIC FAILURE 7

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0012208
hpo_term: Immotile sperm
chpo_term: 不动精子症
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
Disease (OMIM:615034):
Dystonia 24
DYSTONIA 24

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0031960
hpo_term: Arm dystonia
chpo_term: 臂肌张力障碍
id: HP:0012048
hpo_term: Oromandibular dystonia
chpo_term: 口下颌肌张力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0200085
hpo_term: Limb tremor
chpo_term: 肢体震颤
Disease (OMIM:277320):
VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA
Visceral myopathy, familial, with external ophthalmoplegia

Associated phenotypes (HPO):
id: HP:0005203
hpo_term: Spontaneous esophageal perforation
chpo_term: 自发性食管穿孔
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002578
hpo_term: Gastroparesis
chpo_term: 胃轻瘫
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
Disease (OMIM:268200):
Myoglobinuria, acute recurrent, autosomal recessive
MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0008942
hpo_term: Acute rhabdomyolysis
chpo_term: 急性横纹肌溶解症
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛