TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:620988):
Intellectual developmental disorder, autosomal dominant 75

Associated phenotypes (HPO):
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
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:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
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:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0012389
hpo_term: Appendicular hypotonia
chpo_term: 四肢肌张力低下
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
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:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
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:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012817
hpo_term: Noncompaction cardiomyopathy
chpo_term: 心肌致密化不全
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:182800):
SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS
Spastic paraplegia with associated extrapyramidal signs

Associated phenotypes (HPO):
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:610687):
Nemaline myopathy 7
NEMALINE MYOPATHY 7

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0010300
hpo_term: Abnormally low-pitched voice
chpo_term: 异常低声调
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0100297
hpo_term: Increased endomysial connective tissue
chpo_term: 肌内膜结缔组织增加
id: HP:0010546
hpo_term: Muscle fibrillation
chpo_term: 肌纤维颤动
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0003789
hpo_term: Minicore myopathy
chpo_term: 小核肌病
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0020203
hpo_term: Z-band streaming
chpo_term: Z带漂移
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0034671
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
Disease (OMIM:601952):
KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma

Associated phenotypes (HPO):
id: HP:0007490
hpo_term: Linear arrays of macular hyperkeratoses in flexural areas
chpo_term: 弯曲部位线状分布的角化过度斑
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0001795
hpo_term: Hyperconvex nail
chpo_term: 甲异常凸起
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0009775
hpo_term: Amniotic constriction ring
chpo_term: 羊膜带狭窄环
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007465
hpo_term: Honeycomb palmoplantar hyperkeratosis
chpo_term: 蜂窝状掌跖角化
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0007479
hpo_term: Congenital nonbullous ichthyosiform erythroderma
chpo_term: 鱼鳞病样红皮病(大疱型)、大疱性鱼鳞病样角化过度症、显性遗传性先天性鱼鳞病、表皮松解性角化过度鱼鳞病
Disease (OMIM:620744):
Spermatogenic failure 90
SPERMATOGENIC FAILURE 90

Associated phenotypes (HPO):
id: HP:0030346
hpo_term: Abnormal circulating follicle-stimulating hormone concentration
chpo_term: 循环促卵泡激素浓度异常
id: HP:0030345
hpo_term: Abnormal circulating luteinizing hormone concentration
chpo_term: 血液黄体生成素水平异常
id: HP:0034011
hpo_term: Reduced progressive sperm motility
chpo_term: 精子前向运动减少
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:0000798
hpo_term: Oligospermia
chpo_term: 少精症
Disease (OMIM:235800):
HISTIDINEMIA
Histidinemia

Associated phenotypes (HPO):
id: HP:0010906
hpo_term: Hyperhistidinemia
chpo_term: 高组氨酸血症
id: HP:0002927
hpo_term: Histidinuria
chpo_term: 组氨酸尿症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:6000621
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:302060):
Barth syndrome
BARTH SYNDROME

Associated phenotypes (HPO):
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0002286
hpo_term: Fair hair
chpo_term: 金发
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:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:6000517
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001706
hpo_term: Endocardial fibroelastosis
chpo_term: 心内膜弹力纤维增生症
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0004913
hpo_term: Intermittent lactic acidemia
chpo_term: 间歇性乳酸血症
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0033755
hpo_term: Increased left ventricular end-diastolic volume
chpo_term: 左心室舒张末期容量增大
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0040289
hpo_term: Cyclic neutropenia
chpo_term: 周期性中性粒细胞减少症
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0008322
hpo_term: Abnormal mitochondrial morphology
chpo_term: 线粒体形态异常
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0001913
hpo_term: Granulocytopenia
chpo_term: 粒细胞减少症
id: HP:0003756
hpo_term: Skeletal myopathy
chpo_term: 骨骼肌病
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
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:0005437
hpo_term: Recurrent infections in infancy and early childhood
chpo_term: 婴儿和幼儿期反复感染
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
Disease (OMIM:266280):
RAPADILINO SYNDROME
RAPADILINO syndrome

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0005198
hpo_term: Stiff interphalangeal joints
chpo_term: 指关节僵硬
id: HP:0001070
hpo_term: Mottled pigmentation
chpo_term: 斑驳病
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
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:0000417
hpo_term: Slender nose
chpo_term: 鼻细长
id: HP:0006498
hpo_term: Aplasia/Hypoplasia of the patella
chpo_term: 髌骨发育不良/发育不全
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
Disease (OMIM:620022):
STICKLER SYNDROME, TYPE VI
Stickler syndrome, type VI

Associated phenotypes (HPO):
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0031624
hpo_term: Moderate myopia
chpo_term: 中度近视
id: HP:0034372
hpo_term: Internal tibial torsion
chpo_term: 胫骨内旋
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:608631):
ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2
Asperger syndrome, susceptibility to, 2

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000728
hpo_term: Impaired ability to form peer relationships
chpo_term: 同伴关系建立能力障碍
id: HP:0000723
hpo_term: Restrictive behavior
chpo_term: 限制性行为
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0000758
hpo_term: Abnormal nonverbal communicative behavior
chpo_term: 非言语交际行为异常
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000721
hpo_term: Lack of spontaneous play
chpo_term: 自发性游戏缺乏
id: HP:0000732
hpo_term: Inflexible adherence to routines or rituals
chpo_term: 恪守程序或习惯
Disease (OMIM:618422):
DEAFNESS, AUTOSOMAL RECESSIVE 100
Deafness, autosomal recessive 100

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001098
hpo_term: Abnormal fundus morphology
chpo_term: 眼底形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:617711):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91
Developmental and epileptic encephalopathy 91

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0005274
hpo_term: Prominent nasal tip
chpo_term: 鼻尖突出
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:233450):
GOODPASTURE SYNDROME
Goodpasture syndrome

Associated phenotypes (HPO):
id: HP:0045050
hpo_term: Increased DLCO
chpo_term: 一氧化碳弥散量增加
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0032979
hpo_term: Hemosiderin-laden macrophages in bronchoalveolar fluid
chpo_term: 支气管肺泡液中载血铁蛋白巨噬细胞
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0010982
hpo_term: Polygenic inheritance
chpo_term: 多基因遗传
id: HP:0012587
hpo_term: Macroscopic hematuria
chpo_term: 肉眼血尿
id: HP:0033030
hpo_term: Anti-glomerular basement membrane-antibody positivity
chpo_term: 抗肾小球基底膜抗体阳性
id: HP:0033174
hpo_term: Bloody bronchoalveolar lavage fluid
chpo_term: 血性支气管肺泡灌洗液
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:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0012617
hpo_term: Erythrocyte cylindruria
chpo_term: 红细胞管型尿
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0012615
hpo_term: Cylindruria
chpo_term: 管型尿
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0033316
hpo_term: Glomerular crescent formation
chpo_term: 肾小球新月体形成
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0025392
hpo_term: Nodular pattern on pulmonary HRCT
chpo_term: HRCT可见肺部结节状结构
id: HP:0025390
hpo_term: Reticular pattern on pulmonary HRCT
chpo_term: 肺部HRCT可见网状结构
id: HP:0033559
hpo_term: Anti-myeloperoxidase antibody positivity
chpo_term: 抗髓过氧化物酶抗体阳性
id: HP:0040223
hpo_term: Pulmonary hemorrhage
chpo_term: 肺出血
id: HP:0032230
hpo_term: Cytoplasmic antineutrophil antibody positivity
chpo_term: 细胞质抗中性粒细胞抗体阳性
id: HP:0032177
hpo_term: Parenchymal consolidation
chpo_term: 肺实变
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0003138
hpo_term: Increased blood urea nitrogen
chpo_term: 血液尿素氮升高
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
Disease (OMIM:305690):
Genitourinary tract anomalies
GENITOURINARY TRACT ANOMALIES

Associated phenotypes (HPO):
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
Disease (OMIM:216820):
Coloboma, ocular, autosomal recessive
COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0001132
hpo_term: Lens subluxation
chpo_term: 晶状体半脱位
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0025586
hpo_term: Hypertropia
chpo_term: 上斜视
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
Disease (OMIM:132090):
Epilepsy, benign occipital
EPILEPSY, BENIGN OCCIPITAL

Associated phenotypes (HPO):
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613211):
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3
Amelogenesis imperfecta, hypomaturation type, iia3

Associated phenotypes (HPO):
id: HP:0011085
hpo_term: Hypomature dental enamel
chpo_term: 牙釉质发育不全
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0006285
hpo_term: Enamel hypomineralization
chpo_term: 牙釉质矿化不足
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:620817):
MHC class II deficiency 4
MHC CLASS II DEFICIENCY 4

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0005401
hpo_term: Recurrent candida infections
chpo_term: 反复念珠菌感染
id: HP:0004385
hpo_term: Protracted diarrhea
chpo_term: 迁延性腹泻
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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
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:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0033222
hpo_term: Decreased CD4:CD8 ratio
chpo_term: CD4:CD8 比值减低
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003347
hpo_term: Impaired lymphocyte transformation with phytohemagglutinin
chpo_term: 植物血凝素淋巴细胞转化受损
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:613205):
LMNA-related congenital muscular dystrophy
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED

Associated phenotypes (HPO):
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0003697
hpo_term: Scapuloperoneal amyotrophy
chpo_term: 肩腓肌萎缩
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0008948
hpo_term: Proximal upper limb amyotrophy
chpo_term: 上肢近端肌萎缩
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0100295
hpo_term: Muscle fiber atrophy
chpo_term: 肌纤维萎缩
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
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:0006671
hpo_term: Paroxysmal atrial tachycardia
chpo_term: 阵发性房性心动过速
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
id: HP:0032989
hpo_term: Delayed ability to roll over
chpo_term: 翻身能力延迟
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0003089
hpo_term: Hamstring contractures
chpo_term: 腘绳肌挛缩
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0033454
hpo_term: Tube feeding
chpo_term: 管饲
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0034391
hpo_term: Elbow contracture
chpo_term: 肘部挛缩
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力