TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:619149):
LESSEL-KREIENKAMP SYNDROME
Lessel-Kreienkamp syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010863
hpo_term: Receptive language delay
chpo_term: 接受性语言发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0010537
hpo_term: Wide cranial sutures
chpo_term: 颅缝增宽
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0008589
hpo_term: Hypoplastic helices
chpo_term: 耳轮发育不全
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
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:606069):
Hemochromatosis, type 4
HEMOCHROMATOSIS, TYPE 4

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0040270
hpo_term: Impaired glucose tolerance
chpo_term: 葡萄糖耐量下降
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0012463
hpo_term: Elevated transferrin saturation
chpo_term: 转铁蛋白饱和度升高
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
Disease (OMIM:618257):
DEAFNESS, AUTOSOMAL RECESSIVE 112
Deafness, autosomal recessive 112

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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
Disease (OMIM:617164):
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY

Associated phenotypes (HPO):
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
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:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
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:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
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:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0000808
hpo_term: Penoscrotal hypospadias
chpo_term: 阴茎阴囊型尿道下裂
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615983):
Bardet-Biedl syndrome 5
BARDET-BIEDL SYNDROME 5

Associated phenotypes (HPO):
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:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
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:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0007754
hpo_term: Macular dystrophy
chpo_term: 黄斑营养不良
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:151430):
B-CELL CLL/LYMPHOMA 2

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0012191
hpo_term: B-cell lymphoma
chpo_term: B细胞淋巴瘤
id: HP:0012539
hpo_term: Non-Hodgkin lymphoma
chpo_term: 非霍奇金淋巴瘤
Disease (OMIM:619161):
Carpal tunnel syndrome 2
CARPAL TUNNEL SYNDROME 2

Associated phenotypes (HPO):
id: HP:0033660
hpo_term: Hand paresthesia
chpo_term: 手感觉异常
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
id: HP:0033673
hpo_term: Positive Phalen test
chpo_term: Phalen征阳性
id: HP:0033672
hpo_term: Positive carpal Tinel sign
chpo_term: 腕部Tinel征阳性
id: HP:0003393
hpo_term: Thenar muscle atrophy
chpo_term: 鱼际肌萎缩
id: HP:0046505
hpo_term: Hand pain
chpo_term: 手部疼痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:222300):
WOLFRAM SYNDROME 1
Wolfram syndrome 1

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
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:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001889
hpo_term: Megaloblastic anemia
chpo_term: 巨幼细胞性贫血
id: HP:0001924
hpo_term: Sideroblastic anemia
chpo_term: 铁粒幼细胞性贫血
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006217
hpo_term: Limited mobility of proximal interphalangeal joint
chpo_term: 近端指（趾）间关节活动受限
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
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:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
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:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000029
hpo_term: Testicular atrophy
chpo_term: 睾丸萎缩
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002401
hpo_term: Stroke-like episode
chpo_term: 卒中样发作
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
Disease (OMIM:620938):
Spastic paraplegia 93, autosomal recessive

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0033748
hpo_term: Hypoesthesia
chpo_term: 感觉迟钝
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0012706
hpo_term: Elevated brain choline level by MRS
chpo_term: MRS发现脑胆碱水平升高
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0012708
hpo_term: Reduced brain N-acetyl aspartate level by MRS
chpo_term: 通过MRS发现N-乙酰天门冬氨酸水平降低
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011449
hpo_term: Knee clonus
chpo_term: 膝阵挛
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
Disease (OMIM:610623):
Cataract 11, multiple types
CATARACT 11, MULTIPLE TYPES

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
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
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:600430):
CHROMOSOME 2q37 DELETION SYNDROME
Chromosome 2q37 deletion syndrome

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0000283
hpo_term: Broad face
chpo_term: 宽脸
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0012171
hpo_term: Stereotypical hand wringing
chpo_term: 刻板性手部扭动
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001682
hpo_term: Subvalvular aortic stenosis
chpo_term: 主动脉瓣下狭窄
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0005863
hpo_term: Type E brachydactyly
chpo_term: E型短指（趾）
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
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:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
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:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012166
hpo_term: Skin-picking
chpo_term: 皮肤剔除
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0004689
hpo_term: Short fourth metatarsal
chpo_term: 第四跖骨短
Disease (OMIM:620086):
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES
Intellectual developmental disorder with ocular anomalies and distinctive facial features

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
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:0011523
hpo_term: Iris cyst
chpo_term: 虹膜囊肿
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:600356):
PACHYDERMODACTYLY, FAMILIAL
Pachydermodactyly, familial

Associated phenotypes (HPO):
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:193003):
Nystagmus 4, congenital, autosomal dominant
NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0011477
hpo_term: Upbeat nystagmus
chpo_term: 上跳性眼球震颤
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007670
hpo_term: Abnormal vestibulo-ocular reflex
chpo_term: 前庭眼反射异常
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0007179
hpo_term: Absent smooth pursuit
chpo_term: 平滑追视缺失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616534):
THYROID CANCER, NONMEDULLARY, 4
Thyroid cancer, nonmedullary, 4

Associated phenotypes (HPO):
id: HP:0002895
hpo_term: Papillary thyroid carcinoma
chpo_term: 甲状腺乳头状癌
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0012125
hpo_term: Prostate cancer
chpo_term: 前列腺癌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
Disease (OMIM:619607):
HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY
Heterotaxy, visceral, 10, autosomal, with male infertility

Associated phenotypes (HPO):
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0003363
hpo_term: Abdominal situs inversus
chpo_term: 腹部内脏逆位
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0033036
hpo_term: Decreased nasal nitric oxide
chpo_term: 鼻腔一氧化氮减低
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:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
Disease (OMIM:602541):
MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE
Muscular dystrophy, congenital, megaconial type

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
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:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033686
hpo_term: Mitochondrial hypertrophy
chpo_term: 线粒体肥大
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0100297
hpo_term: Increased endomysial connective tissue
chpo_term: 肌内膜结缔组织增加
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病