TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:610006):
2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
2-Methylbutyryl-Coa dehydrogenase deficiency

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
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: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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0033220
hpo_term: 2-ethylhydracylic aciduria
chpo_term: 2-乙基水杨酸尿
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005949
hpo_term: Apneic episodes in infancy
chpo_term: 婴儿期呼吸暂停
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
Disease (OMIM:606664):
GLYCINE N-METHYLTRANSFERASE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0003235
hpo_term: Hypermethioninemia
chpo_term: 高甲硫胺酸血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
Disease (OMIM:615156):
Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
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:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
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:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003689
hpo_term: Multiple mitochondrial DNA deletions
chpo_term: 线粒体DNA多处缺失
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0004673
hpo_term: Decreased facial expression
chpo_term: 面部表情减少
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
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:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:209950):
Immunodeficiency 27A, mycobacteriosis, AR
IMMUNODEFICIENCY 27A

Associated phenotypes (HPO):
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0025043
hpo_term: Enlarged mesenteric lymph node
chpo_term: 肠系膜淋巴结肿大
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0012649
hpo_term: Increased inflammatory response
chpo_term: 炎症反应增强
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0100727
hpo_term: Histiocytosis
chpo_term: 组织细胞增多症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0005661
hpo_term: Salmonella osteomyelitis
chpo_term: 沙门氏菌骨髓炎
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0025427
hpo_term: Abnormal bronchus physiology
chpo_term: 支气管异常生理学
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0008802
hpo_term: Hypoplasia of the femoral head
chpo_term: 股骨头发育低下
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
Disease (OMIM:112310):
BOOMERANG DYSPLASIA
Boomerang dysplasia

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0005104
hpo_term: Hypoplastic nasal septum
chpo_term: 鼻中隔发育不全
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0002990
hpo_term: Fibular aplasia
chpo_term: 腓骨发育不良
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003974
hpo_term: Absent radius
chpo_term: 桡骨缺如
id: HP:0008824
hpo_term: Hypoplastic iliac body
chpo_term: 髂骨体发育不良
Disease (OMIM:233400):
Perrault syndrome 1
PERRAULT SYNDROME 1

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
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:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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:0007941
hpo_term: Limited extraocular movements
chpo_term: 眼球运动受限
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:300960):
Mend syndrome
MEND SYNDROME

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001134
hpo_term: Anterior polar cataract
chpo_term: 前极白内障
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0005590
hpo_term: Spotty hypopigmentation
chpo_term: 点滴状色素减退
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0001845
hpo_term: Overlapping toe
chpo_term: 重叠趾
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0004736
hpo_term: Crossed fused renal ectopia
chpo_term: 融合肾移向一侧
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001104
hpo_term: Macular hypoplasia
chpo_term: 黄斑发育不良
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000237
hpo_term: Small anterior fontanelle
chpo_term: 小前囟
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000472
hpo_term: Long neck
chpo_term: 长颈
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:616339):
Epileptic encephalopathy, early infantile, 29
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
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:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
Disease (OMIM:109730):
AORTIC VALVE DISEASE 1
Aortic valve disease 1

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
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:0001718
hpo_term: Mitral stenosis
chpo_term: 二尖瓣狭窄
id: HP:0011560
hpo_term: Mitral atresia
chpo_term: 二尖瓣闭锁
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0004380
hpo_term: Aortic valve calcification
chpo_term: 主动脉瓣钙化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:265120):
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1
Surfactant metabolism dysfunction, pulmonary, 1

Associated phenotypes (HPO):
id: HP:0005942
hpo_term: Desquamative interstitial pneumonitis
chpo_term: 脱屑间质性肺炎
id: HP:0006517
hpo_term: Intraalveolar phospholipid accumulation
chpo_term: 肺泡蛋白沉积症
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0032981
hpo_term: Absent bronchoalveolar dimeric surfactant-protein B
chpo_term: 支气管肺泡二聚体表面活性剂蛋白B缺乏
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0030879
hpo_term: Interlobular septal thickening
chpo_term: 小叶间隔增厚
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0033186
hpo_term: Misalignment of the pulmonary veins
chpo_term: 肺静脉错位
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:618314):
Hypomagnesemia, seizures, and mental retardation 2
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0005567
hpo_term: Renal magnesium wasting
chpo_term: 肾脏镁消耗
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
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:0012169
hpo_term: Self-biting
chpo_term: 自咬
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0000128
hpo_term: Renal potassium wasting
chpo_term: 肾源性钾流失
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:617027):
HYPERALDOSTERONISM, FAMILIAL, TYPE IV
Hyperaldosteronism, familial, type IV

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000859
hpo_term: Hyperaldosteronism
chpo_term: 醛固酮增多症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:6000318
Disease (OMIM:228020):
Fascial dystrophy, congenital
FASCIAL DYSTROPHY, CONGENITAL

Associated phenotypes (HPO):
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0005750
hpo_term: Lower-limb joint contracture
chpo_term: 下肢关节挛缩
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:615630):
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
Short-Rib thoracic dysplasia 10 with or without polydactyly

Associated phenotypes (HPO):
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000895
hpo_term: Lateral clavicle hook
chpo_term: 锁骨外侧钩
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
id: HP:0040270
hpo_term: Impaired glucose tolerance
chpo_term: 葡萄糖耐量下降
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0006644
hpo_term: Thoracic dysplasia
chpo_term: 胸廓发育不良
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
Disease (OMIM:613255):
Cardiomyopathy, familial hypertrophic, 15
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15

Associated phenotypes (HPO):
id: HP:0031318
hpo_term: Myofiber disarray
chpo_term: 肌纤维无序
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0031319
hpo_term: Cardiomyocyte hypertrophy
chpo_term: 心肌细胞肥大
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0034313
hpo_term: Hyperdynamic left ventricular ejection fraction
chpo_term: 高动力左心室射血分数
id: HP:0031992
hpo_term: Apical hypertrophic cardiomyopathy
chpo_term: 心尖肥厚型心肌病
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0006685
hpo_term: Endocardial fibrosis
chpo_term: 心内膜纤维化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0032092
hpo_term: Left ventricular outflow tract obstruction
chpo_term: 左心室流出道梗阻
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
Disease (OMIM:180100):
Retinitis pigmentosa 1
RETINITIS PIGMENTOSA 1

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
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:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
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:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007688
hpo_term: Undetectable light- and dark-adapted electroretinogram
chpo_term: 无法检测的明暗适应视网膜电图
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000575
hpo_term: Scotoma
chpo_term: 盲点
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:104200):
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
Alport syndrome 3, autosomal dominant

Associated phenotypes (HPO):
id: HP:0002157
hpo_term: Azotemia
chpo_term: 氮质血症
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
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:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001134
hpo_term: Anterior polar cataract
chpo_term: 前极白内障
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0030034
hpo_term: Glomerular basement membrane lamellation
chpo_term: 薄肾小球基底膜病
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001142
hpo_term: Lenticonus
chpo_term: 圆锥形晶状体
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0004722
hpo_term: Thickened glomerular basement membrane
chpo_term: 肾小球基底膜增厚
Disease (OMIM:610984):
Complement factor I deficiency
COMPLEMENT FACTOR I DEFICIENCY

Associated phenotypes (HPO):
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0005369
hpo_term: Decreased serum complement factor H
chpo_term: 血清补体因子H减少
id: HP:0006946
hpo_term: Recurrent meningitis
chpo_term: 复发性脑膜炎
id: HP:0005356
hpo_term: Decreased serum complement factor I
chpo_term: 血清补体因子I减少
id: HP:0005366
hpo_term: Recurrent streptococcus pneumoniae infections
chpo_term: 复发性链球菌感染肺炎
id: HP:0005421
hpo_term: Decreased serum complement C3
chpo_term: 血清补体C3减少
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0005376
hpo_term: Recurrent Haemophilus influenzae infections
chpo_term: 反复流感嗜血杆菌感染
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003095
hpo_term: Septic arthritis
chpo_term: 化脓性关节炎
id: HP:0005381
hpo_term: Recurrent meningococcal disease
chpo_term: 反复脑膜炎球菌感染
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0012330
hpo_term: Pyelonephritis
chpo_term: 肾盂肾炎
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:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0005416
hpo_term: Decreased serum complement factor B
chpo_term: 血清补体因子B降低
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
Disease (OMIM:149300):
Koilonychia, hereditary
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 2

Associated phenotypes (HPO):
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:156220):
Meralgia paraesthetica, familial
MERALGIA PARAESTHETICA, FAMILIAL

Associated phenotypes (HPO):
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传