TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:617086):
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2

Associated phenotypes (HPO):
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP: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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
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: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:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
Disease (OMIM:300719):
DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES
Deafness, cataract, retinitis pigmentosa, and sperm abnormalities

Associated phenotypes (HPO):
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
Disease (OMIM:606835):
Digital arthropathy-brachydactyly, familial
DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003795
hpo_term: Short middle phalanx of toe
chpo_term: 中节趾骨短
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0005872
hpo_term: Brachytelomesophalangy
chpo_term: 中远节指（趾）骨缩短
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0003040
hpo_term: Arthropathy
chpo_term: 关节病
id: HP:0009466
hpo_term: Radial deviation of finger
chpo_term: 手指桡侧偏斜
id: HP:0001857
hpo_term: Short distal phalanx of toe
chpo_term: 末节跖骨短小
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:611391):
Cataract 33, multiple types
CATARACT 33, MULTIPLE TYPES

Associated phenotypes (HPO):
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0100019
hpo_term: Cortical cataract
chpo_term: 皮质性白内障
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007971
hpo_term: Lamellar cataract
chpo_term: 板层白内障
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:215300):
Chondrosarcoma
CHONDROSARCOMA

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0006765
hpo_term: Chondrosarcoma
chpo_term: 软骨肉瘤
Disease (OMIM:617938):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62
Developmental and epileptic encephalopathy 62

Associated phenotypes (HPO):
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
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: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:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:258200):
OLIVER SYNDROME
Oliver syndrome

Associated phenotypes (HPO):
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:612840):
LEUKOCYTE ADHESION DEFICIENCY, TYPE III
Leukocyte adhesion deficiency, type III

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001872
hpo_term: Abnormality of thrombocytes
chpo_term: 血小板异常
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:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0011002
hpo_term: Osteopetrosis
chpo_term: 骨硬化
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0001978
hpo_term: Extramedullary hematopoiesis
chpo_term: 髓外造血
id: HP:0002733
hpo_term: Abnormality of the lymph nodes
chpo_term: 淋巴结异常
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
Disease (OMIM:603965):
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
Focal segmental glomerulosclerosis 2

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:210250):
SITOSTEROLEMIA 1
Sitosterolemia 1

Associated phenotypes (HPO):
id: HP:0004446
hpo_term: Stomatocytosis
chpo_term: 口形红细胞增多症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0031290
hpo_term: Tuberous xanthoma
chpo_term: 结节性黄瘤
id: HP:0100546
hpo_term: Carotid artery stenosis
chpo_term: 颈动脉狭窄
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0008158
hpo_term: Hyperapobetalipoproteinemia
chpo_term: 高β-载脂蛋白血症
id: HP:0001902
hpo_term: Giant platelets
chpo_term: 巨血小板
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0020181
hpo_term: Reduced haptoglobin level
chpo_term: 结合珠蛋白水平降低
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003540
hpo_term: Impaired platelet aggregation
chpo_term: 血小板聚集障碍
id: HP:0001084
hpo_term: Corneal arcus
chpo_term: 角膜环
id: HP:0004870
hpo_term: Chronic hemolytic anemia
chpo_term: 慢性溶血性贫血
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0033341
hpo_term: Elevated circulating sitosterol concentration
chpo_term: 循环谷固醇浓度增加
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004802
hpo_term: Episodic hemolytic anemia
chpo_term: 阵发性溶血性贫血
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
Disease (OMIM:612868):
CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS
Corneal dystrophy, posterior amorphous

Associated phenotypes (HPO):
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0009918
hpo_term: Ectopia pupillae
chpo_term: 瞳孔异位
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615861):
Familial idiopathic steroid-resistant nephrotic syndrome
NEPHROTIC SYNDROME, TYPE 10

Associated phenotypes (HPO):
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0031266
hpo_term: Podocyte foot process effacement
chpo_term: 足细胞足突消失
id: HP:0012588
hpo_term: Steroid-resistant nephrotic syndrome
chpo_term: 激素耐受性肾病综合征
id: HP:0012579
hpo_term: Minimal change glomerulonephritis
chpo_term: 微小病变性肾小球肾炎
Disease (OMIM:259650):
Osteoma of middle ear
OSTEOMA OF MIDDLE EAR

Associated phenotypes (HPO):
id: HP:0100246
hpo_term: Osteoma
chpo_term: 骨瘤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
Disease (OMIM:619083):
Delpire-Mcneill syndrome
DELPIRE-MCNEILL SYNDROME

Associated phenotypes (HPO):
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620602):
Lymphatic malformation 14
LYMPHATIC MALFORMATION 14

Associated phenotypes (HPO):
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:150800):
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
Hereditary leiomyomatosis and renal cell cancer

Associated phenotypes (HPO):
id: HP:0000131
hpo_term: Uterine leiomyoma
chpo_term: 子宫肌瘤
id: HP:0002891
hpo_term: Uterine leiomyosarcoma
chpo_term: 子宫平滑肌肉瘤
id: HP:0005584
hpo_term: Renal cell carcinoma
chpo_term: 肾细胞癌
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0007620
hpo_term: Cutaneous leiomyoma
chpo_term: 皮肤平滑肌瘤
id: HP:0003536
hpo_term: Decreased fumarate hydratase activity
chpo_term: 延胡索酸水解酶活性降低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0007437
hpo_term: Multiple cutaneous leiomyomas
chpo_term: 多发性皮肤平滑肌瘤
id: HP:0006755
hpo_term: Cutaneous leiomyosarcoma
chpo_term: 皮肤平滑肌肉瘤
Disease (OMIM:609284):
Nemaline myopathy 1
NEMALINE MYOPATHY 1

Associated phenotypes (HPO):
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001349
hpo_term: Facial diplegia
chpo_term: 双侧面瘫
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003724
hpo_term: Shoulder girdle muscle atrophy
chpo_term: 肩胛带肌肉萎缩
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
Disease (OMIM:619097):
MISMATCH REPAIR CANCER SYNDROME 3
Mismatch repair cancer syndrome 3

Associated phenotypes (HPO):
id: HP:0100743
hpo_term: Neoplasm of the rectum
chpo_term: 直肠肿瘤
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0012174
hpo_term: Glioblastoma multiforme
chpo_term: 多形性胶质母细胞瘤
id: HP:0012174
hpo_term: Glioblastoma multiforme
chpo_term: 多形性胶质母细胞瘤
id: HP:0012190
hpo_term: T-cell lymphoma
chpo_term: T细胞淋巴瘤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000997
hpo_term: Axillary freckling
chpo_term: 腋窝雀斑
id: HP:0007565
hpo_term: Multiple cafe-au-lait spots
chpo_term: 多发性咖啡斑
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0009737
hpo_term: Lisch nodules
chpo_term: Lisch结节
Disease (OMIM:618389):
Fetal akinesia deformation sequence 3
FETAL AKINESIA DEFORMATION SEQUENCE 3

Associated phenotypes (HPO):
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0007430
hpo_term: Generalized edema
chpo_term: 广泛水肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:123150):
Jackson-Weiss syndrome
JACKSON-WEISS SYNDROME

Associated phenotypes (HPO):
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001783
hpo_term: Broad metatarsal
chpo_term: 跖骨变宽
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0010068
hpo_term: Broad first metatarsal
chpo_term: 第一跖骨粗大
id: HP:0008080
hpo_term: Hallux varus
chpo_term: 拇趾内翻
id: HP:0010105
hpo_term: Short first metatarsal
chpo_term: 第一跖骨短
id: HP:0010077
hpo_term: Broad distal phalanx of the hallux
chpo_term: 拇趾远节趾骨变宽
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0010086
hpo_term: Broad proximal phalanx of the hallux
chpo_term: 拇趾近节趾骨变宽
id: HP:0008122
hpo_term: Calcaneonavicular fusion
chpo_term: 跟舟骨融合
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
Disease (OMIM:620170):
SPERMATOGENIC FAILURE 78
Spermatogenic failure 78

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:0032561
hpo_term: Microcephalic sperm head
chpo_term: 小头精子
id: HP:0032562
hpo_term: Tapered sperm head
chpo_term: 锥形精子头
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0033712
hpo_term: Repeated implantation failure
chpo_term: 反复种植失败
Disease (OMIM:617904):
Epileptic encephalopathy, early infantile, 59
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002266
hpo_term: Focal clonic seizure
chpo_term: 局灶性阵挛性发作
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:192200):
Varicose veins
VARICOSE VEINS

Associated phenotypes (HPO):
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
Disease (OMIM:618404):
Leukodystrophy, hypomyelinating, 18
LEUKODYSTROPHY, HYPOMYELINATING, 18

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
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:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0040131
hpo_term: Abnormal motor nerve conduction velocity
chpo_term: 运动神经传导速度异常
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
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
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
Disease (OMIM:116100):
Cataract 20, multiple types
CATARACT 20, MULTIPLE TYPES

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0100019
hpo_term: Cortical cataract
chpo_term: 皮质性白内障
id: HP:0007971
hpo_term: Lamellar cataract
chpo_term: 板层白内障
id: HP:0010695
hpo_term: Sutural cataract
chpo_term: 缝性白内障
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615120):
Myasthenic syndrome, congenital, 8
MYASTHENIC SYNDROME, CONGENITAL, 8

Associated phenotypes (HPO):
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
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
Disease (OMIM:613237):
Glomerulosclerosis, focal segmental, 5
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传