TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:73246):
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0004389
hpo_term: Intestinal pseudo-obstruction
chpo_term: 假性肠梗阻
id: HP:0010956
hpo_term: Fetal megacystis
chpo_term: 胎儿巨膀胱症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007678
hpo_term: Lacrimal duct stenosis
chpo_term: 泪道狭窄
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
Disease (ORPHA:327):
Congenital proconvertin deficiency
Congenital factor VII deficiency
Hypoproconvertinemia

Associated phenotypes (HPO):
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0004846
hpo_term: Prolonged bleeding after surgery
chpo_term: 手术后出血时间延长
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
id: HP:0010881
hpo_term: Abnormality of the umbilical cord
chpo_term: 脐带异常
id: HP:0011891
hpo_term: Post-partum hemorrhage
chpo_term: 产后出血
Disease (ORPHA:73245):
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
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:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
Disease (ORPHA:326):
Owren disease
Proaccelerin deficiency
Parahemophilia
Congenital factor V deficiency

Associated phenotypes (HPO):
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001934
hpo_term: Persistent bleeding after trauma
chpo_term: 创伤后持续性出血
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0004846
hpo_term: Prolonged bleeding after surgery
chpo_term: 手术后出血时间延长
id: HP:0006298
hpo_term: Prolonged bleeding after dental extraction
chpo_term: 拔牙后出血时间延长
id: HP:0007420
hpo_term: Spontaneous hematomas
chpo_term: 自发性血肿
id: HP:0011890
hpo_term: Prolonged bleeding following procedure
chpo_term: 术后出血时间延长
id: HP:0011891
hpo_term: Post-partum hemorrhage
chpo_term: 产后出血
id: HP:0030137
hpo_term: Prolonged bleeding following circumcision
chpo_term: 包皮环切术后出血时间延长
id: HP:0030140
hpo_term: Oral cavity bleeding
chpo_term: 口腔出血
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0100608
hpo_term: Metrorrhagia
chpo_term: 子宫出血
Disease (ORPHA:101003):
SPG23
Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
Autosomal recessive spastic paraplegia type 23
Lison syndrome

Associated phenotypes (HPO):
id: HP:0001003
hpo_term: Multiple lentigines
chpo_term: 多发性雀斑样痣
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0012701
hpo_term: Bowel urgency
chpo_term: 排便紧迫感
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002218
hpo_term: Silver-gray hair
chpo_term: 银灰色毛发
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:3191):
Onat syndrome
Subaortic stenosis-short stature syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001080
hpo_term: Biliary tract abnormality
chpo_term: 胆道异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0001682
hpo_term: Subvalvular aortic stenosis
chpo_term: 主动脉瓣下狭窄
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0005174
hpo_term: Membranous subvalvular aortic stenosis
chpo_term: 膜性主动脉瓣下狭窄
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008777
hpo_term: Abnormal vocal cord morphology
chpo_term: 声带形态异常
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
Disease (ORPHA:13):
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0003781
hpo_term: Excessive salivation
chpo_term: 唾液分泌过多
id: HP:0010553
hpo_term: Oculogyric crisis
chpo_term: 动眼神经危象
Disease (ORPHA:101004):
SPG24
Autosomal recessive spastic paraplegia type 24

Associated phenotypes (HPO):
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0012407
hpo_term: Scissor gait
chpo_term: 剪刀步态
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
Disease (ORPHA:320):
Apparent mineralocorticoid excess
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0003351
hpo_term: Decreased circulating renin level
chpo_term: 血肾素水平降低
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0001960
hpo_term: Hypokalemic metabolic alkalosis
chpo_term: 低钾性代谢性碱中毒
id: HP:0004319
hpo_term: Decreased circulating aldosterone level
chpo_term: 醛固酮减少症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011731
hpo_term: Abnormality of circulating cortisol level
chpo_term: 血皮质醇水平异常
id: HP:0012603
hpo_term: Abnormal urine sodium concentration
chpo_term: 尿钠浓度异常
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001095
hpo_term: Hypertensive retinopathy
chpo_term: 高血压性视网膜病变
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0012606
hpo_term: Renal sodium wasting
chpo_term: 肾源性钠流失
Disease (ORPHA:101005):
Autosomal recessive spastic paraplegia type 25
Autosomal recessive spastic paraplegia-disc herniation syndrome
SPG25

Associated phenotypes (HPO):
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0008441
hpo_term: Herniation of intervertebral nuclei
chpo_term: 椎间盘髓核疝出
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0001087
hpo_term: Developmental glaucoma
chpo_term: 发育性青光眼
id: HP:0003134
hpo_term: Abnormality of peripheral nerve conduction
chpo_term: 周围神经传导异常
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0008480
hpo_term: Cervical spondylosis
chpo_term: 颈椎病
id: HP:0012513
hpo_term: Upper limb pain
chpo_term: 上肢疼痛
id: HP:0100712
hpo_term: Abnormal lumbar spine morphology
chpo_term: 腰椎形态异常
Disease (ORPHA:3193):
Supravalvular aortic stenosis
SVAS

Associated phenotypes (HPO):
id: HP:0004381
hpo_term: Supravalvular aortic stenosis
chpo_term: 主动脉瓣上狭窄
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
Disease (ORPHA:101006):
Autosomal recessive spastic paraplegia type 26
SPG26
GM2 synthase deficiency

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0006938
hpo_term: Impaired vibration sensation at ankles
chpo_term: 脚踝振动觉障碍
id: HP:0007024
hpo_term: Pseudobulbar paralysis
chpo_term: 假性球麻痹
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
Disease (ORPHA:15):
Achondroplasia

Associated phenotypes (HPO):
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0005619
hpo_term: Thoracolumbar kyphosis
chpo_term: 胸腰部脊柱后凸
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0000242
hpo_term: Parietal bossing
chpo_term: 顶骨隆起
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000309
hpo_term: Abnormal midface morphology
chpo_term: 面中部形态异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003194
hpo_term: Short nasal bridge
chpo_term: 短鼻梁
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0004060
hpo_term: Trident hand
chpo_term: 三叉手
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0008445
hpo_term: Cervical spinal canal stenosis
chpo_term: 颈椎椎管狭窄
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010241
hpo_term: Short proximal phalanx of finger
chpo_term: 近节指骨短小
id: HP:0010536
hpo_term: Central sleep apnea
chpo_term: 中枢性睡眠呼吸暂停
id: HP:0011452
hpo_term: Functional abnormality of the middle ear
chpo_term: 中耳机能异常
id: HP:0045086
hpo_term: Knee joint hypermobility
chpo_term: 膝关节过度伸展
id: HP:0045087
hpo_term: Hip joint hypermobility
chpo_term: 髋关节过度伸展
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0003375
hpo_term: Narrow greater sciatic notch
chpo_term: 坐骨大切迹变窄
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0011867
hpo_term: Abnormal iliac wing morphology
chpo_term: 髂骨翼形态异常
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
Disease (ORPHA:322):
EEC
Bladder exstrophy-epispadias-cloacal extrophy complex
BEEC
Exstrophy-epispadias complex

Associated phenotypes (HPO):
id: HP:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0002836
hpo_term: Bladder exstrophy
chpo_term: 膀胱外翻
id: HP:0004298
hpo_term: Abnormality of the abdominal wall
chpo_term: 腹壁异常
id: HP:0010866
hpo_term: Abdominal wall defect
chpo_term: 腹壁缺损
id: HP:0100645
hpo_term: Cystocele
chpo_term: 膀胱膨出
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000075
hpo_term: Renal duplication
chpo_term: 肾重复
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000136
hpo_term: Bifid uterus
chpo_term: 双角子宫
id: HP:0001367
hpo_term: Abnormal joint morphology
chpo_term: 关节形态异常
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0004321
hpo_term: Bladder fistula
chpo_term: 膀胱瘘管
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0011842
hpo_term: Abnormal skeletal morphology
chpo_term: 骨骼形态异常
id: HP:0025489
hpo_term: Bladder duplication
chpo_term: 重复膀胱
id: HP:0030014
hpo_term: Female sexual dysfunction
chpo_term: 女性性功能障碍
id: HP:0030261
hpo_term: Absent penis
chpo_term: 阴茎缺如
id: HP:0040307
hpo_term: Male sexual dysfunction
chpo_term: 男性性功能障碍
id: HP:0100599
hpo_term: Bifid penis
chpo_term: 二裂阴茎
id: HP:0100600
hpo_term: Penoscrotal transposition
chpo_term: 阴茎阴囊转位
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000290
hpo_term: Abnormality of the forehead
chpo_term: 前额异常
id: HP:0000315
hpo_term: Abnormality of the orbital region
chpo_term: 眼眶异常
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002025
hpo_term: Anal stenosis
chpo_term: 肛门狭窄
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0010475
hpo_term: Cloacal exstrophy
chpo_term: 泄殖腔外翻
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
Disease (ORPHA:3194):
Stern-Lubinsky-Durrie syndrome
Corneodermatoosseous syndrome
CDO syndrome

Associated phenotypes (HPO):
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001817
hpo_term: Absent fingernail
chpo_term: 指甲缺损
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0012047
hpo_term: Hemeralopia
chpo_term: 昼盲
Disease (ORPHA:3196):
Lyngstadaas syndrome
Steroid dehydrogenase deficiency-dental anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0011069
hpo_term: Supernumerary tooth
chpo_term: 多生牙
Disease (ORPHA:101001):
Autosomal recessive spastic paraplegia type 21
SPG21
Mast syndrome

Associated phenotypes (HPO):
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002476
hpo_term: Primitive reflex
chpo_term: 原始反射
id: HP:0003134
hpo_term: Abnormality of peripheral nerve conduction
chpo_term: 周围神经传导异常
id: HP:0006892
hpo_term: Frontotemporal cerebral atrophy
chpo_term: 额颞叶萎缩
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0010526
hpo_term: Dysgraphia
chpo_term: 书写困难
id: HP:0012075
hpo_term: Personality disorder
chpo_term: 人格障碍
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
Disease (ORPHA:11):
Poly-X
Pentasomy X syndrome
49,XXXXX syndrome
Penta-X

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小