TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:601104):
SUPRANUCLEAR PALSY, PROGRESSIVE, 1
Supranuclear palsy, progressive, 1

Associated phenotypes (HPO):
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0100256
hpo_term: Senile plaques
chpo_term: 老年斑
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0031908
hpo_term: Micrographia
chpo_term: 写字过小症
id: HP:0200147
hpo_term: Neuronal loss in basal ganglia
chpo_term: 基底神经节神经元丢失
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000658
hpo_term: Eyelid apraxia
chpo_term: 眼睑失用症
id: HP:0002439
hpo_term: Frontolimbic dementia
chpo_term: 额叶和边缘叶痴呆
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002530
hpo_term: Axial dystonia
chpo_term: 轴向肌张力障碍
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0002528
hpo_term: Granulovacuolar degeneration
chpo_term: 颗粒空泡变性
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000743
hpo_term: Frontal release signs
chpo_term: 额叶释放征象
id: HP:0002544
hpo_term: Retrocollis
chpo_term: 颈后倾
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002446
hpo_term: Astrocytosis
chpo_term: 星形胶质细胞增殖
Disease (OMIM:135950):
Finger locking, recurrent, with intrauterine growth retardation andproportionate short stature
FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:605362):
CARDIOMYOPATHY, DILATED, 1J
Cardiomyopathy, dilated, 1J

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001699
hpo_term: Sudden death
chpo_term: 猝死
Disease (OMIM:613500):
Agammaglobulinemia 2, autosomal recessive
AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0004432
hpo_term: Agammaglobulinemia
chpo_term: 无丙种球蛋白血症
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0030252
hpo_term: Absent circulating B cells
chpo_term: 血液B 细胞缺失
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002843
hpo_term: Abnormal T cell morphology
chpo_term: T细胞形态异常
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
Disease (OMIM:613266):
Waardenburg syndrome, type 4C
WAARDENBURG SYNDROME, TYPE 4C

Associated phenotypes (HPO):
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0002211
hpo_term: White forelock
chpo_term: 额发变白
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002227
hpo_term: White eyelashes
chpo_term: 白睫
id: HP:0007732
hpo_term: Lacrimal gland hypoplasia
chpo_term: 泪腺发育不全
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002226
hpo_term: White eyebrow
chpo_term: 白眉
Disease (OMIM:190320):
Trichodentoosseous syndrome
TRICHODENTOOSSEOUS SYNDROME

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0000264
hpo_term: Abnormality of the mastoid
chpo_term: 乳突异常
id: HP:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000679
hpo_term: Taurodontia
chpo_term: 牙髓腔增大
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:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
Disease (OMIM:603075):
MACULAR DEGENERATION, AGE-RELATED, 1
Macular degeneration, age-related, 1

Associated phenotypes (HPO):
id: HP:0030499
hpo_term: Macular drusen
chpo_term: 黄斑玻璃疣
id: HP:0030499
hpo_term: Macular drusen
chpo_term: 黄斑玻璃疣
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0031609
hpo_term: Geographic atrophy
chpo_term: 地图样萎缩
id: HP:0031609
hpo_term: Geographic atrophy
chpo_term: 地图样萎缩
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0025574
hpo_term: Macular hemorrhage
chpo_term: 黄斑出血
id: HP:0012643
hpo_term: Foveal hypopigmentation
chpo_term: 中心凹脱色素改变
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615617):
Immunodeficiency 19
IMMUNODEFICIENCY 19

Associated phenotypes (HPO):
id: HP:0012176
hpo_term: Abnormal natural killer cell morphology
chpo_term: 自然杀伤细胞形态异常
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0031691
hpo_term: Severe viral infection
chpo_term: 重症病毒感染
id: HP:0004430
hpo_term: Severe combined immunodeficiency
chpo_term: 重症联合免疫缺陷
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0002846
hpo_term: Abnormal B cell morphology
chpo_term: B细胞形态异常
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:221745):
DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE
Deafness, sensorineural, Autosomal-Mitochondrial type

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001427
hpo_term: Mitochondrial inheritance
chpo_term: 线粒体遗传
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:146000):
HYPOCHONDROPLASIA
Hypochondroplasia

Associated phenotypes (HPO):
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0009815
hpo_term: Aplasia/hypoplasia of the extremities
chpo_term: 肢体发育不良/发育不全
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0012679
hpo_term: Widened interpedicular distance
chpo_term: 椎弓根间距增加
id: HP:0004060
hpo_term: Trident hand
chpo_term: 三叉手
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
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:618333):
MENKE-HENNEKAM SYNDROME 2
Menke-Hennekam syndrome 2

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000321
hpo_term: Square face
chpo_term: 方脸
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000387
hpo_term: Absent earlobe
chpo_term: 耳垂缺失
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0010621
hpo_term: Cutaneous syndactyly of toes
chpo_term: 脚趾皮肤性并趾
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002588
hpo_term: Duodenal ulcer
chpo_term: 十二指肠溃疡
id: HP:0006349
hpo_term: Agenesis of permanent teeth
chpo_term: 恒牙发育不全
Disease (OMIM:614521):
THROMBOCYTHEMIA 3
Thrombocythemia 3

Associated phenotypes (HPO):
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0031386
hpo_term: Increased micromegakaryocyte count
chpo_term: 小巨核细胞计数增多
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617028):
Intellectual developmental disorder, autosomal recessive 54
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54

Associated phenotypes (HPO):
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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
Disease (OMIM:610021):
Hyperinsulinemic hypoglycemia, familial, 7
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7

Associated phenotypes (HPO):
id: HP:0004510
hpo_term: Pancreatic islet-cell hyperplasia
chpo_term: 胰岛细胞增生
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0002173
hpo_term: Hypoglycemic seizures
chpo_term: 低血糖发作
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
Disease (OMIM:617996):
OOCYTE MATURATION DEFECT 5
Oocyte maturation defect 5

Associated phenotypes (HPO):
id: HP:0034719
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
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
Disease (OMIM:615159):
Mitochondrial complex III deficiency, nuclear type 4
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
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:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0011924
hpo_term: Decreased activity of mitochondrial complex III
chpo_term: 线粒体复合物III活性降低
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:115470):
CAT EYE SYNDROME
Cat eye syndrome

Associated phenotypes (HPO):
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0025023
hpo_term: Rectal atresia
chpo_term: 直肠闭锁
id: HP:0002245
hpo_term: Meckel diverticulum
chpo_term: Meckel憩室
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0100590
hpo_term: Rectal fistula
chpo_term: 直肠瘘
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011662
hpo_term: Tricuspid atresia
chpo_term: 三尖瓣闭锁
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0005160
hpo_term: Total anomalous pulmonary venous return
chpo_term: 完全性肺静脉回流异常
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0005912
hpo_term: Biliary atresia
chpo_term: 胆道闭锁
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0003974
hpo_term: Absent radius
chpo_term: 桡骨缺如
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (DECIPHER:31):
Hereditary Liability to Pressure Palsies (HNPP)

Associated phenotypes (HPO):
id: HP:0012078
hpo_term: Motor conduction block
chpo_term: 运动传导阻滞
id: HP:0002450
hpo_term: Abnormal motor neuron morphology
chpo_term: 运动神经元的形态异常
Disease (OMIM:618469):
Contractures, pterygia, and variable skeletal fusions syndrome 1B
CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0030039
hpo_term: Fused thoracic vertebrae
chpo_term: 胸椎融合
id: HP:0006109
hpo_term: Absent phalangeal crease
chpo_term: 指节间皮肤折痕缺如
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0009760
hpo_term: Antecubital pterygium
chpo_term: 肘前翼状胬肉
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
Disease (OMIM:617982):
VERVERI-BRADY SYNDROME
Ververi-Brady syndrome

Associated phenotypes (HPO):
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
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:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:620848):
Spermatogenic failure 92
SPERMATOGENIC FAILURE 92

Associated phenotypes (HPO):
id: HP:0034011
hpo_term: Reduced progressive sperm motility
chpo_term: 精子前向运动减少
id: HP:0032560
hpo_term: Coiled sperm flagella
chpo_term: 精子鞭毛卷曲
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:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0034811
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0032558
hpo_term: Absent sperm flagella
chpo_term: 精子鞭毛缺失
id: HP:0032559
hpo_term: Short sperm flagella
chpo_term: 精子鞭毛短
Disease (OMIM:619011):
OOCYTE MATURATION DEFECT 9
Oocyte maturation defect 9

Associated phenotypes (HPO):
id: HP:0031516
hpo_term: Oocyte arrest at metaphase I
chpo_term: 卵母细胞第一次减数分裂中期停滞
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000140
hpo_term: Abnormality of the menstrual cycle
chpo_term: 月经周期异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0033336
hpo_term: Zygotic cleavage failure
chpo_term: 合子分裂失败
Disease (OMIM:616322):
Myasthenic syndrome, congenital, 3B, fast-channel
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL

Associated phenotypes (HPO):
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
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:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
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:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
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:620690):
Developmental dysplasia of the hip 3
DEVELOPMENTAL DYSPLASIA OF THE HIP 3

Associated phenotypes (HPO):
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0003274
hpo_term: Hypoplastic acetabulae
chpo_term: 髋臼发育低下
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:610753):
ALOPECIA AREATA 2
Alopecia areata 2

Associated phenotypes (HPO):
id: HP:0002289
hpo_term: Alopecia universalis
chpo_term: 全身毛发脱失
id: HP:0007418
hpo_term: Alopecia totalis
chpo_term: 全秃
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:208300):
Ascites, chylous
ASCITES, CHYLOUS

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012281
hpo_term: Chylous ascites
chpo_term: 乳糜腹水
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼