TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:203300):
HERMANSKY-PUDLAK SYNDROME 1
Hermansky-Pudlak syndrome 1

Associated phenotypes (HPO):
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0007603
hpo_term: Freckles in sun-exposed areas
chpo_term: 曝光部位雀斑
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0001022
hpo_term: Albinism
chpo_term: 白化病
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
Disease (OMIM:617182):
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0011704
hpo_term: Sick sinus syndrome
chpo_term: 病窦综合征
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:207600):
TAKAYASU ARTERITIS
Takayasu arteritis

Associated phenotypes (HPO):
id: HP:0012089
hpo_term: Arteritis
chpo_term: 动脉炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:601086):
Laterality defects, autosomal dominant
LATERALITY DEFECTS, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0030853
hpo_term: Heterotaxy
chpo_term: 内脏异位
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619805):
Spermatogenic failure 68
SPERMATOGENIC FAILURE 68

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:0012205
hpo_term: Globozoospermia
chpo_term: 圆头精子症
Disease (OMIM:179400):
RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE
Radius, aplasia of, with cleft lip/palate

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0003974
hpo_term: Absent radius
chpo_term: 桡骨缺如
Disease (OMIM:608908):
Myopia 6
MYOPIA 6

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001098
hpo_term: Abnormal fundus morphology
chpo_term: 眼底形态异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0007800
hpo_term: Increased axial length of the globe
chpo_term: 眼球轴长度增加
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:134500):
FACTOR VIII DEFICIENCY
Factor VIII deficiency

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0003125
hpo_term: Reduced factor VIII activity
chpo_term: 凝血因子VIII活性减低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613496):
Immunodeficiency, common variable, 6
IMMUNODEFICIENCY, COMMON VARIABLE, 6

Associated phenotypes (HPO):
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0410295
hpo_term: Complete or near-complete absence of specific antibody response to tetanus vaccine
chpo_term: 对破伤风疫苗完全或几乎全无特异性抗体应答
id: HP:0011839
hpo_term: Abnormal T cell count
chpo_term: T细胞数量异常
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0032134
hpo_term: Chronic decreased circulating total IgG
chpo_term: 慢性血液总IgG降低
id: HP:0012587
hpo_term: Macroscopic hematuria
chpo_term: 肉眼血尿
id: HP:0010975
hpo_term: Abnormal B cell count
chpo_term: B细胞数量异常
id: HP:0033295
hpo_term: Mesangial Immune complex deposition
chpo_term: 系膜免疫复合物沉积
id: HP:0012476
hpo_term: Decreased specific pneumococcal antibody level
chpo_term: 特异性肺炎球菌抗体水平降低
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0012593
hpo_term: Nephrotic range proteinuria
chpo_term: 肾性蛋白尿排泄增高
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:615959):
Centronuclear myopathy 5
MYOPATHY, CENTRONUCLEAR, 5

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
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: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:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
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:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:130000):
Ehlers-danlos syndrome, type I
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001073
hpo_term: Cigarette-paper scars
chpo_term: 卷烟纸样瘢痕
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0010500
hpo_term: Hyperextensibility of the knee
chpo_term: 膝关节过伸
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000993
hpo_term: Molluscoid pseudotumors
chpo_term: 软假瘤
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0006316
hpo_term: Irregularly spaced teeth
chpo_term: 牙齿间隔不规则
id: HP:0001187
hpo_term: Hyperextensibility of the finger joints
chpo_term: 指间关节过伸
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002010
hpo_term: Narrow maxilla
chpo_term: 颌骨狭窄
id: HP:0005222
hpo_term: Bowel diverticulosis
chpo_term: 肠憩室病
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000394
hpo_term: Lop ear
chpo_term: 垂耳
id: HP:0005100
hpo_term: Premature birth following premature rupture of fetal membranes
chpo_term: 胎膜早破引起的胎儿早产
id: HP:0025014
hpo_term: Subcutaneous spheroids
chpo_term: 皮下球状物
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0010485
hpo_term: Hyperextensibility at elbow
chpo_term: 肘关节过伸
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
Disease (OMIM:135150):
Birt-Hogg-Dube syndrome
BIRT-HOGG-DUBE SYNDROME

Associated phenotypes (HPO):
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0030436
hpo_term: Fibrofolliculoma
chpo_term: 纤维毛囊瘤
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0030255
hpo_term: Large intestinal polyposis
chpo_term: 大肠息肉病
id: HP:0005584
hpo_term: Renal cell carcinoma
chpo_term: 肾细胞癌
id: HP:0032227
hpo_term: Sebaceous hyperplasia
chpo_term: 皮脂腺增生
id: HP:0032228
hpo_term: Trichodiscoma
chpo_term: 毛盘瘤
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0002108
hpo_term: Spontaneous pneumothorax
chpo_term: 自发性气胸
id: HP:0007620
hpo_term: Cutaneous leiomyoma
chpo_term: 皮肤平滑肌瘤
id: HP:0005948
hpo_term: Multiple pulmonary cysts
chpo_term: 多发肺囊肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0009726
hpo_term: Renal neoplasm
chpo_term: 肾肿瘤
id: HP:0006755
hpo_term: Cutaneous leiomyosarcoma
chpo_term: 皮肤平滑肌肉瘤
Disease (OMIM:300147):
PROSTATE CANCER, HEREDITARY, X-LINKED 1
Prostate cancer, hereditary, X-linked 1

Associated phenotypes (HPO):
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0012125
hpo_term: Prostate cancer
chpo_term: 前列腺癌
Disease (OMIM:620712):
Polydactyly-macrocephaly syndrome
POLYDACTYLY-MACROCEPHALY SYNDROME

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004592
hpo_term: Thoracic platyspondyly
chpo_term: 扁平胸椎
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0009789
hpo_term: Perianal abscess
chpo_term: 肛周脓肿
id: HP:0007898
hpo_term: Exudative retinopathy
chpo_term: 渗出性视网膜病变
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:146800):
Ichthyosis, Bullous type
ICHTHYOSIS BULLOSA OF SIEMENS

Associated phenotypes (HPO):
id: HP:0007475
hpo_term: Congenital bullous ichthyosiform erythroderma
chpo_term: 先天性大疱性鱼鳞病样红皮病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:128101):
Dystonia 4, torsion, autosomal dominant
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0009938
hpo_term: Sunken cheeks
chpo_term: 脸颊凹陷
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0032005
hpo_term: Hemidystonia
chpo_term: 单侧肌张力障碍
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001304
hpo_term: Torsion dystonia
chpo_term: 扭转性肌张力障碍
Disease (OMIM:617800):
MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE
Microcephaly 19, primary, autosomal recessive

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0000002
hpo_term: Abnormality of body height
chpo_term: 身高异常
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012510
hpo_term: Extra-axial cerebrospinal fluid accumulation
chpo_term: 轴外脑脊液蓄积
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:300635):
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2
Lymphoproliferative syndrome, X-linked, 2

Associated phenotypes (HPO):
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0012219
hpo_term: Erythema nodosum
chpo_term: 结节性红斑
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0025084
hpo_term: Folliculitis
chpo_term: 毛囊炎
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
id: HP:0001915
hpo_term: Aplastic anemia
chpo_term: 再生障碍性贫血
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:302803):
Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA CUTIS CONGENITA

Associated phenotypes (HPO):
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0007385
hpo_term: Aplasia cutis congenita of scalp
chpo_term: 先天性头皮表皮发育不全
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
Disease (OMIM:221770):
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1

Associated phenotypes (HPO):
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002340
hpo_term: Caudate atrophy
chpo_term: 尾状核萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0010524
hpo_term: Agnosia
chpo_term: 失认
id: HP:0031844
hpo_term: Euphoria
chpo_term: 欣快症
id: HP:0000719
hpo_term: Inappropriate behavior
chpo_term: 不适宜行为
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000734
hpo_term: Disinhibition
chpo_term: 脱抑制
id: HP:0000757
hpo_term: Lack of insight
chpo_term: 自知力缺乏
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0003447
hpo_term: Axonal loss
chpo_term: 轴突缺失
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0002476
hpo_term: Primitive reflex
chpo_term: 原始反射
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0000727
hpo_term: Frontal lobe dementia
chpo_term: 额叶痴呆
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
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:0002127
hpo_term: Abnormal upper motor neuron morphology
chpo_term: 上运动神经元形态异常
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:273750):
3-M syndrome 1
THREE M SYNDROME 1

Associated phenotypes (HPO):
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008839
hpo_term: Hypoplastic pelvis
chpo_term: 骨盆发育不良
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0004570
hpo_term: Increased vertebral height
chpo_term: 椎体高度增加
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
Disease (OMIM:617035):
PATENT DUCTUS ARTERIOSUS 2
Patent ductus arteriosus 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620699):
Maple syrup urine disease, type II
MAPLE SYRUP URINE DISEASE, TYPE II

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:608115):
Ovarian hyperstimulation syndrome
OVARIAN HYPERSTIMULATION SYNDROME

Associated phenotypes (HPO):
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛