TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:566):
Congenital miosis
Congenital microcoria

Associated phenotypes (HPO):
id: HP:0007695
hpo_term: Abnormal pupillary light reflex
chpo_term: 瞳孔对光反射异常
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0007990
hpo_term: Hypoplastic iris stroma
chpo_term: 虹膜基质发育不全
id: HP:0012805
hpo_term: Iris transillumination defect
chpo_term: 虹膜透光缺陷
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0012047
hpo_term: Hemeralopia
chpo_term: 昼盲
id: HP:0012108
hpo_term: Open angle glaucoma
chpo_term: 开角型青光眼
id: HP:0031730
hpo_term: Axial myopia
chpo_term: 轴性近视
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
Disease (ORPHA:568):
Lenz microphthalmia
Microphthalmia, Lenz type

Associated phenotypes (HPO):
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0009943
hpo_term: Complete duplication of thumb phalanx
chpo_term: 拇指指骨完全重复
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
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:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
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:0003043
hpo_term: Abnormal shoulder morphology
chpo_term: 肩部形态异常
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0009755
hpo_term: Ankyloblepharon
chpo_term: 睑缘粘连
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0100818
hpo_term: Long thorax
chpo_term: 长胸廓
Disease (ORPHA:563):
Postpartum cardiomyopathy
Peripartum cardiomyopathy

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0005135
hpo_term: Abnormal T-wave
chpo_term: T波异常
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0011703
hpo_term: Sinus tachycardia
chpo_term: 窦性心动过速
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0012764
hpo_term: Orthopnea
chpo_term: 端坐式呼吸
id: HP:0025169
hpo_term: Left ventricular systolic dysfunction
chpo_term: 左心室收缩功能障碍
id: HP:0030848
hpo_term: Elevated jugular venous pressure
chpo_term: 颈静脉压升高
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001708
hpo_term: Right ventricular failure
chpo_term: 右心衰竭
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0005120
hpo_term: Abnormal cardiac atrium morphology
chpo_term: 心房形态异常
id: HP:0005133
hpo_term: Right ventricular dilatation
chpo_term: 右心室扩张
id: HP:0006705
hpo_term: Abnormal atrioventricular valve morphology
chpo_term: 房室瓣形态异常
id: HP:0012398
hpo_term: Peripheral edema
chpo_term: 周围性水肿
id: HP:0012763
hpo_term: Paroxysmal dyspnea
chpo_term: 突发性呼吸困难
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0030356
hpo_term: Increased serum interferon-gamma level
chpo_term: 血清干扰素-γ水平增加
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0031295
hpo_term: Left atrial enlargement
chpo_term: 左心房增大
id: HP:0100602
hpo_term: Preeclampsia
chpo_term: 先兆子痫
id: HP:0100603
hpo_term: Toxemia of pregnancy
chpo_term: 妊娠毒血症
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002401
hpo_term: Stroke-like episode
chpo_term: 卒中样发作
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002926
hpo_term: Abnormality of thyroid physiology
chpo_term: 甲状腺生理功能异常
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0011713
hpo_term: Left bundle branch block
chpo_term: 左束支传导阻滞
id: HP:0030149
hpo_term: Cardiogenic shock
chpo_term: 心源性休克
Disease (ORPHA:564):
Meckel-Gruber syndrome
Dysencephalia splanchnocystica
Meckel syndrome

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002612
hpo_term: Congenital hepatic fibrosis
chpo_term: 先天性肝纤维化
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
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:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000532
hpo_term: Abnormal chorioretinal morphology
chpo_term: 脉络膜视网膜形态异常
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0006870
hpo_term: Lobar holoprosencephaly
chpo_term: 脑叶性前脑无裂畸形
id: HP:0008053
hpo_term: Aplasia/Hypoplasia of the iris
chpo_term: 虹膜发育缺陷/不全
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000068
hpo_term: Urethral atresia
chpo_term: 尿道闭锁
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0000221
hpo_term: Furrowed tongue
chpo_term: 沟裂舌
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
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:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0001737
hpo_term: Pancreatic cysts
chpo_term: 胰腺囊肿
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0001747
hpo_term: Accessory spleen
chpo_term: 副脾
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0006706
hpo_term: Cystic liver disease
chpo_term: 囊性肝病
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0010295
hpo_term: Aplasia/Hypoplasia of the tongue
chpo_term: 舌未发育/舌发育不全
id: HP:0010459
hpo_term: True hermaphroditism
chpo_term: 真两性畸形
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100732
hpo_term: Pancreatic fibrosis
chpo_term: 胰腺纤维化
Disease (ORPHA:561):
Marshall-Smith syndrome
Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Associated phenotypes (HPO):
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:560):
Marshall syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0002738
hpo_term: Hypoplastic frontal sinuses
chpo_term: 额窦发育不全
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0004327
hpo_term: Abnormal vitreous humor morphology
chpo_term: 玻璃体异常
id: HP:0007773
hpo_term: Vitreoretinopathy
chpo_term: 玻璃体视网膜病
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
Disease (ORPHA:391673):
Necrotizing enterocolitis

Associated phenotypes (HPO):
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012537
hpo_term: Food intolerance
chpo_term: 食物不耐受
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0030144
hpo_term: Hypoactive bowel sounds
chpo_term: 肠鸣音减弱
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001543
hpo_term: Gastroschisis
chpo_term: 腹裂
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001941
hpo_term: Acidosis
chpo_term: 酸中毒
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002586
hpo_term: Peritonitis
chpo_term: 腹膜炎
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
id: HP:0005968
hpo_term: Temperature instability
chpo_term: 体温不稳定
id: HP:0011014
hpo_term: Abnormal glucose homeostasis
chpo_term: 葡萄糖内稳态平衡异常
id: HP:0031273
hpo_term: Shock
chpo_term: 休克
id: HP:0032545
hpo_term: Abdominal rigidity
chpo_term: 腹部强直
id: HP:0040187
hpo_term: Neonatal sepsis
chpo_term: 新生儿败血症
Disease (ORPHA:589821):
Congenital-onset Steinert myotonic dystrophy
Congenital-onset Steinert disease
Congenital-onset myotonic dystrophy type 1

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0031843
hpo_term: Bradyphrenia
chpo_term: 智力迟钝
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0011710
hpo_term: Bundle branch block
chpo_term: 束支传导阻滞
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
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:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0040183
hpo_term: Encopresis
chpo_term: 大便失禁
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (ORPHA:254864):
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Benign COX deficiency
Reversible infantile cytochrome C oxidase deficiency
Mitochondrial myopathy with reversible complex IV deficiency
Reversible infantile respiratory chain deficiency
Infantile reversible cytochrome C oxidase deficiency myopathy
Mitochondrial myopathy with reversible COX deficiency

Associated phenotypes (HPO):
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0003688
hpo_term: Cytochrome C oxidase-negative muscle fibers
chpo_term: 细胞色素C氧化酶阴性肌肉纤维
id: HP:0009051
hpo_term: Increased muscle glycogen content
chpo_term: 肌糖原含量增加
id: HP:0009058
hpo_term: Increased muscle lipid content
chpo_term: 肌肉脂肪含量增加
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0004900
hpo_term: Severe lactic acidosis
chpo_term: 重度乳酸酸中毒
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
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:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003234
hpo_term: Decreased plasma carnitine
chpo_term: 血浆肉碱降低
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0005946
hpo_term: Ventilator dependence with inability to wean
chpo_term: 呼吸机依赖无法脱机
id: HP:0011470
hpo_term: Nasogastric tube feeding in infancy
chpo_term: 婴儿期鼻胃管饲
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
Disease (ORPHA:521445):
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000321
hpo_term: Square face
chpo_term: 方脸
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0000558
hpo_term: Rieger anomaly
chpo_term: Rieger综合征
id: HP:0000696
hpo_term: Delayed eruption of permanent teeth
chpo_term: 恒牙萌出延迟
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001848
hpo_term: Calcaneovalgus deformity
chpo_term: 足外翻畸形
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0005990
hpo_term: Thyroid hypoplasia
chpo_term: 甲状腺发育不良
id: HP:0008007
hpo_term: Primary congenital glaucoma
chpo_term: 原发性先天性青光眼
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0010490
hpo_term: Abnormality of the palmar creases
chpo_term: 掌纹异常
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0020038
hpo_term: Vertebrobasilar dolichoectasia
chpo_term: 椎基底动脉扩张延长症
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指