TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:137920):
Renal cysts and diabetes syndrome
RENAL CYSTS AND DIABETES SYNDROME

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0030997
hpo_term: Atretic vas deferens
chpo_term: 输精管闭锁
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:6000156
id: HP:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0004379
hpo_term: Abnormality of alkaline phosphatase level
chpo_term: 碱性磷酸酶活性异常
id: HP:0030424
hpo_term: Epididymal cyst
chpo_term: 附睾囊肿
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0002594
hpo_term: Pancreatic hypoplasia
chpo_term: 胰腺发育不良
id: HP:0005563
hpo_term: Decreased numbers of nephrons
chpo_term: 肾单位数量减少
id: HP:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0001080
hpo_term: Biliary tract abnormality
chpo_term: 胆道异常
id: HP:0040270
hpo_term: Impaired glucose tolerance
chpo_term: 葡萄糖耐量下降
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0100611
hpo_term: Multiple glomerular cysts
chpo_term: 多发性肾小球囊肿
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0004904
hpo_term: Maturity-onset diabetes of the young
chpo_term: 青少年发病的成人型糖尿病
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
Disease (OMIM:615716):
Hyperphosphatasia with impaired intellectual development syndrome 4
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
id: HP:0006118
hpo_term: Shortening of all distal phalanges of the fingers
chpo_term: 手指的所有远端指骨缩短
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
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:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
Disease (OMIM:612079):
Alopecia, neurologic defects, and endocrinopathy syndrome
ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME

Associated phenotypes (HPO):
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002333
hpo_term: Motor deterioration
chpo_term: 运动功能减退
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003121
hpo_term: Limb joint contracture
chpo_term: 肢体关节挛缩
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0011734
hpo_term: Central adrenal insufficiency
chpo_term: 中枢性肾上腺功能不全
id: HP:6000745
id: HP:0012506
hpo_term: Small pituitary gland
chpo_term: 垂体缩小
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
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:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
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:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
Disease (OMIM:608747):
Insulin-Like growth factor I deficiency
INSULIN-LIKE GROWTH FACTOR I DEFICIENCY

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
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:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0030353
hpo_term: Decreased serum insulin-like growth factor 1
chpo_term: 血清胰岛素样生长因子-1（IGF1）水平降低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
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:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:617667):
Fraser syndrome 3
FRASER SYNDROME 3

Associated phenotypes (HPO):
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0010958
hpo_term: Bilateral renal agenesis
chpo_term: 双肾缺如
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0005343
hpo_term: Hypoplasia of the bladder
chpo_term: 膀胱发育不良
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0012725
hpo_term: Cutaneous syndactyly
chpo_term: 皮肤性并指畸形
id: HP:0034217
hpo_term: Sonographic non-visualized fetal bladder
chpo_term: 超声未见胎儿膀胱
id: HP:0100682
hpo_term: Tracheal atresia
chpo_term: 气管闭锁
id: HP:0012300
hpo_term: Ureteral agenesis
chpo_term: 输尿管未发育
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0001126
hpo_term: Cryptophthalmos
chpo_term: 隐眼
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0020206
hpo_term: Simple ear
chpo_term: 简平耳
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:192350):
VATER/VACTERL ASSOCIATION
Vater associationvacterl association, included

Associated phenotypes (HPO):
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002144
hpo_term: Tethered cord
chpo_term: 脊髓栓系
id: HP:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0001602
hpo_term: Laryngeal stenosis
chpo_term: 喉狭窄
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0010479
hpo_term: Patent urachus
chpo_term: 脐尿管未闭
id: HP:0100258
hpo_term: Preaxial polydactyly
chpo_term: 轴前多指（趾）
id: HP:0001739
hpo_term: Abnormal nasopharynx morphology
chpo_term: 鼻咽部形态异常
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0003974
hpo_term: Absent radius
chpo_term: 桡骨缺如
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
Disease (OMIM:601005):
TIMOTHY SYNDROME
Timothy syndrome

Associated phenotypes (HPO):
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:0001195
hpo_term: Single umbilical artery
chpo_term: 单脐动脉
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012725
hpo_term: Cutaneous syndactyly
chpo_term: 皮肤性并指畸形
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
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:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012387
hpo_term: Bronchitis
chpo_term: 支气管炎
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
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
id: HP:0001699
hpo_term: Sudden death
chpo_term: 猝死
Disease (OMIM:616579):
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
Intellectual developmental disorder, autosomal dominant 40

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
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:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
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:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0100025
hpo_term: Overfriendliness
chpo_term: 过度友善
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:300852):
MENTAL RETARDATION, X-LINKED 88
Intellectual developmental disorder, X-linked 88

Associated phenotypes (HPO):
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:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:268250):
RHIZOMELIC SYNDROME
Rhizomelic syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009611
hpo_term: Bifid distal phalanx of the thumb
chpo_term: 拇指末节指骨部分重复
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0009943
hpo_term: Complete duplication of thumb phalanx
chpo_term: 拇指指骨完全重复
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:604169):
LEFT VENTRICULAR NONCOMPACTION 1
Left ventricular noncompaction 1

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0012817
hpo_term: Noncompaction cardiomyopathy
chpo_term: 心肌致密化不全
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0030682
hpo_term: Left ventricular noncompaction
chpo_term: 左心室心肌致密化不全
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0011664
hpo_term: Left ventricular noncompaction cardiomyopathy
chpo_term: 左室致密化不全心肌病
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0031352
hpo_term: Chest tightness
chpo_term: 胸闷
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
Disease (OMIM:601777):
CONE-ROD DYSTROPHY 6
Cone-Rod dystrophy 6

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:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0012047
hpo_term: Hemeralopia
chpo_term: 昼盲
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:0000613
hpo_term: Photophobia
chpo_term: 畏光
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:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
id: HP:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0007675
hpo_term: Progressive night blindness
chpo_term: 渐进性夜盲症
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003831
hpo_term: Typified by age-related penetrance
chpo_term: 具有年龄相关的外显率特征
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
Disease (OMIM:618226):
Mitochondrial complex I deficiency, nuclear type 5
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0007183
hpo_term: Focal T2 hyperintense basal ganglia lesion
chpo_term: 基底节局灶性T2高信号病变
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
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:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
Disease (OMIM:617115):
Peeling skin syndrome 5
PEELING SKIN SYNDROME 5

Associated phenotypes (HPO):
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:620236):
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES

Associated phenotypes (HPO):
id: HP:0031319
hpo_term: Cardiomyocyte hypertrophy
chpo_term: 心肌细胞肥大
id: HP:0001670
hpo_term: Asymmetric septal hypertrophy
chpo_term: 非对称性心室间隔肥厚
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0034532
id: HP:0031656
hpo_term: Systolic anterior motion of the mitral valve
chpo_term: 二尖瓣收缩期前向运动
id: HP:0034386
hpo_term: Reduced left ventricular endsystolic diameter
chpo_term: 左室收缩末期内径内径减小
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:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0032092
hpo_term: Left ventricular outflow tract obstruction
chpo_term: 左心室流出道梗阻