TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:177700):
Glaucoma 1, open angle, P
GLAUCOMA 1, OPEN ANGLE, P

Associated phenotypes (HPO):
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0012108
hpo_term: Open angle glaucoma
chpo_term: 开角型青光眼
id: HP:0012796
hpo_term: Increased cup-to-disc ratio
chpo_term: 杯盘比增大
id: HP:0007854
hpo_term: Glaucomatous visual field defect
chpo_term: 青光眼性视野缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:187395):
TERATOCARCINOMA-DERIVED GROWTH FACTOR 1
Teratocarcinoma-Derived growth factor 1

Associated phenotypes (HPO):
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
Disease (OMIM:613977):
CYANOSIS, TRANSIENT NEONATAL
Cyanosis, transient neonatal

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0012119
hpo_term: Methemoglobinemia
chpo_term: 高铁血红蛋白血症
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
Disease (OMIM:209500):
Atrichia with papular lesions
ATRICHIA WITH PAPULAR LESIONS

Associated phenotypes (HPO):
id: HP:0007482
hpo_term: Generalized papillary lesions
chpo_term: 泛发性乳头瘤样病变
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
Disease (OMIM:244400):
Ciliary dyskinesia, primary, 1
CILIARY DYSKINESIA, PRIMARY, 1

Associated phenotypes (HPO):
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0000481
hpo_term: Abnormal cornea morphology
chpo_term: 角膜形态异常
id: HP:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0012256
hpo_term: Absent outer dynein arms
chpo_term: 外动力蛋白臂缺失
id: HP:0012263
hpo_term: Immotile cilia
chpo_term: 不动纤毛
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0001334
hpo_term: Communicating hydrocephalus
chpo_term: 交通性脑积水
id: HP:0002688
hpo_term: Absent frontal sinuses
chpo_term: 额窦缺如
Disease (OMIM:618822):
MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES
Myopathy, congenital, with respiratory insufficiency and bone fractures

Associated phenotypes (HPO):
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
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:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
Disease (OMIM:620365):
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
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
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:615453):
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
Mitochondrial complex III deficiency, nuclear type 6

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0005974
hpo_term: Episodic ketoacidosis
chpo_term: 阵发性酸中毒
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
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:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0032653
hpo_term: Elevated lactate:pyruvate ratio
chpo_term: 乳酸/丙酮酸比例升高
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
id: HP:0005979
hpo_term: Metabolic ketoacidosis
chpo_term: 代谢性酮症酸中毒
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
Disease (OMIM:619269):
Ondontochondrodysplasia 2 with hearing loss and diabetes
ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0012594
hpo_term: Moderate albuminuria
chpo_term: 微量白蛋白尿
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0000696
hpo_term: Delayed eruption of permanent teeth
chpo_term: 恒牙萌出延迟
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0030866
hpo_term: Large knee
chpo_term: 膝关节偏大
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000703
hpo_term: Dentinogenesis imperfecta
chpo_term: 牙本质发育不全
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:618177):
NEPHROTIC SYNDROME, TYPE 18
Nephrotic syndrome, type 18

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
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:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0012588
hpo_term: Steroid-resistant nephrotic syndrome
chpo_term: 激素耐受性肾病综合征
Disease (OMIM:617244):
FANCONI ANEMIA, COMPLEMENTATION GROUP R
Fanconi anemia, complementation group R

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002144
hpo_term: Tethered cord
chpo_term: 脊髓栓系
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0003221
hpo_term: Chromosomal breakage induced by crosslinking agents
chpo_term: 交联剂诱发的染色体断裂
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0006433
hpo_term: Radial dysplasia
chpo_term: 桡骨发育不良
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0000125
hpo_term: Pelvic kidney
chpo_term: 盆腔肾
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
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:0006349
hpo_term: Agenesis of permanent teeth
chpo_term: 恒牙发育不全
Disease (OMIM:607731):
Charcot-Marie-Tooth disease, axonal, type 2H
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003450
hpo_term: Axonal regeneration
chpo_term: 轴突再生
id: HP:0003380
hpo_term: Decreased number of peripheral myelinated nerve fibers
chpo_term: 周围有髓神经纤维数量减少
id: HP:0007083
hpo_term: Hyperactive patellar reflex
chpo_term: 膝腱反射亢进
id: HP:0007350
hpo_term: Hyperreflexia in upper limbs
chpo_term: 上肢反射亢进
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
Disease (OMIM:206800):
Anonychia congenita
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4

Associated phenotypes (HPO):
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
Disease (OMIM:613744):
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
Spastic paraplegia 51, autosomal recessive

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0100962
hpo_term: Shyness
chpo_term: 害羞
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:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000395
hpo_term: Prominent antihelix
chpo_term: 对耳轮突出
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
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:0000646
hpo_term: Amblyopia
chpo_term: 弱视
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:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:231060):
Genitopalatocardiac syndrome
GENITOPALATOCARDIAC SYNDROME

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0012020
hpo_term: Right aortic arch
chpo_term: 右位主动脉弓
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008668
hpo_term: Gonadal dysgenesis, male
chpo_term: 男性性腺发育不良
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:613988):
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
Dyskeratosis congenita, autosomal recessive, 3

Associated phenotypes (HPO):
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0030413
hpo_term: Squamous cell carcinoma of the tongue
chpo_term: 舌鳞状细胞癌
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
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:0031413
hpo_term: Short telomere length
chpo_term: 端粒缩短
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
Disease (OMIM:613750):
RETINITIS PIGMENTOSA 27
Retinitis pigmentosa 27

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0040049
hpo_term: Macular edema
chpo_term: 黄斑水肿
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007950
hpo_term: Peripapillary chorioretinal atrophy
chpo_term: 乳头旁脉络膜视网膜萎缩
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
Disease (OMIM:603543):
LIMB-MAMMARY SYNDROME
Limb-Mammary syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0000564
hpo_term: Lacrimal duct atresia
chpo_term: 泪道闭锁
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:194470):
Zinc, elevated plasma
ZINC, ELEVATED PLASMA

Associated phenotypes (HPO):
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:611147):
PAROXYSMAL NONKINESIGENIC DYSKINESIA 2
Paroxysmal nonkinesigenic dyskinesia 2

Associated phenotypes (HPO):
id: HP:0002268
hpo_term: Paroxysmal dystonia
chpo_term: 阵发性肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:145981):
Hypocalciuric hypercalcemia, familial, type II
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II

Associated phenotypes (HPO):
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0004398
hpo_term: Peptic ulcer
chpo_term: 消化性溃疡
id: HP:0002918
hpo_term: Hypermagnesemia
chpo_term: 高镁血症
id: HP:0008200
hpo_term: Primary hyperparathyroidism
chpo_term: 原发性甲状旁腺功能亢进症
id: HP:0003529
hpo_term: Parathormone-independent increased renal tubular calcium reabsorption
chpo_term: 非甲状旁腺激素依赖性肾小管钙重吸收增加
id: HP:0000934
hpo_term: Chondrocalcinosis
chpo_term: 软骨钙质沉着症
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0003127
hpo_term: Hypocalciuria
chpo_term: 低钙尿症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616166):
Aortic aneurysm, familial thoracic 9
AORTIC ANEURYSM, FAMILIAL THORACIC 9

Associated phenotypes (HPO):
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0012727
hpo_term: Thoracic aortic aneurysm
chpo_term: 胸主动脉瘤
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0100775
hpo_term: Dural ectasia
chpo_term: 硬膜扩张
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0006687
hpo_term: Aortic tortuosity
chpo_term: 主动脉迂曲
id: HP:0004933
hpo_term: Ascending aortic dissection
chpo_term: 升主动脉夹层
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619255):
BARALLE-MACKEN SYNDROME
Baralle-Macken syndrome

Associated phenotypes (HPO):
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
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:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:608358):
Myopathy, myosin storage, autosomal dominant
MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0003697
hpo_term: Scapuloperoneal amyotrophy
chpo_term: 肩腓肌萎缩
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003707
hpo_term: Calf muscle pseudohypertrophy
chpo_term: 小腿肌肉假性肥大
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0003704
hpo_term: Scapuloperoneal weakness
chpo_term: 肩腓肌无力
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003724
hpo_term: Shoulder girdle muscle atrophy
chpo_term: 肩胛带肌肉萎缩
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002792
hpo_term: Reduced vital capacity
chpo_term: 肺活量减少
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0009055
hpo_term: Generalized limb muscle atrophy
chpo_term: 广泛性四肢肌肉萎缩
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常