TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:449563):
IgG4-related ophthalmic disease

Associated phenotypes (HPO):
id: HP:0000315
hpo_term: Abnormality of the orbital region
chpo_term: 眼眶异常
id: HP:0000620
hpo_term: Dacryocystitis
chpo_term: 泪囊炎
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0007734
hpo_term: Enlarged lacrimal glands
chpo_term: 泪腺增大
id: HP:0010824
hpo_term: Abnormal fifth cranial nerve morphology
chpo_term: 第V颅神经形态异常
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0011482
hpo_term: Abnormal lacrimal gland morphology
chpo_term: 泪腺形态异常
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0031281
hpo_term: Sialadenitis
chpo_term: 涎腺炎
id: HP:0032300
hpo_term: Increased circulating IgG4 level
chpo_term: 血液IgG4增多
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:3000061
hpo_term: Abnormality of infra-orbital nerve
chpo_term: 眶下神经异常
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0005200
hpo_term: Retroperitoneal fibrosis
chpo_term: 腹膜后纤维化
id: HP:0008049
hpo_term: Abnormality of the extraocular muscles
chpo_term: 眼外肌异常
id: HP:0009831
hpo_term: Mononeuropathy
chpo_term: 单神经病
id: HP:0030669
hpo_term: Abnormal ocular adnexa morphology
chpo_term: 眼附属器形态异常
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:3000030
hpo_term: Abnormal morphology of bony orbit of skull
chpo_term: 颅骨眼眶形态异常
id: HP:0000024
hpo_term: Prostatitis
chpo_term: 前列腺炎
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0011747
hpo_term: Abnormality of the anterior pituitary
chpo_term: 垂体前叶异常
id: HP:0012539
hpo_term: Non-Hodgkin lymphoma
chpo_term: 非霍奇金淋巴瘤
id: HP:0030151
hpo_term: Cholangitis
chpo_term: 胆管炎
id: HP:0031912
hpo_term: Trigeminal anesthesia
chpo_term: 三叉神经麻醉
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0100661
hpo_term: Trigeminal neuralgia
chpo_term: 三叉神经痛
id: HP:0100796
hpo_term: Orchitis
chpo_term: 睾丸炎
id: HP:0430022
hpo_term: Abnormality of the sphenoid sinus
chpo_term: 蝶窦异常
Disease (ORPHA:2086):
Optic pathway glioma

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001067
hpo_term: Neurofibromas
chpo_term: 神经纤维瘤
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
Disease (ORPHA:2085):
Glaucoma-sleep apnea syndrome

Associated phenotypes (HPO):
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
Disease (ORPHA:565899):
LGMD type R24
POMGNT2-related LGMD R24
POMGNT2-related muscular dystrophy
POMGNT2-related limb-girdle muscular dystrophy R24
Limb-girdle muscular dystrophy type R24

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
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:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0005912
hpo_term: Biliary atresia
chpo_term: 胆道闭锁
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0011892
hpo_term: Low levels of vitamin K
chpo_term: 维生素K缺乏症
Disease (ORPHA:2084):
GEMSS syndrome
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome

Associated phenotypes (HPO):
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:309246):
GM2 gangliosidosis, AB variant
Hexosaminidase activator deficiency

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002180
hpo_term: Neurodegeneration
chpo_term: 神经变性
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002478
hpo_term: Progressive spastic quadriplegia
chpo_term: 进行性痉挛性四肢瘫
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010780
hpo_term: Hyperacusis
chpo_term: 听觉过敏
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100852
hpo_term: Abnormal fear/anxiety-related behavior
chpo_term: 恐惧/焦虑相关行为异常
id: HP:0000719
hpo_term: Inappropriate behavior
chpo_term: 不适宜行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002476
hpo_term: Primitive reflex
chpo_term: 原始反射
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
id: HP:0012547
hpo_term: Abnormal involuntary eye movements
chpo_term: 不自主眼球运动异常
id: HP:0030904
hpo_term: Glabellar reflex
chpo_term: 眉心反射
id: HP:0002200
hpo_term: Pseudobulbar signs
chpo_term: 假性球麻痹症状
id: HP:0030081
hpo_term: Punctate periventricular T2 hyperintense foci
chpo_term: 脑室周围白质点状T2高信号灶
Disease (ORPHA:2083):
Prominent glabella-microcephaly-hypogenitalism syndrome
MacDermot-Winter syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
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:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
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:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0010720
hpo_term: Abnormal hair pattern
chpo_term: 毛发分布异常
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:2089):
Glycogen storage disease due to hepatic glycogen synthase deficiency
Glycogen storage disease due to liver glycogen synthase deficiency
Glycogen storage disease type 0a
GSD type 0a
GSD due to hepatic glycogen synthase deficiency
Glycogenosis type 0a

Associated phenotypes (HPO):
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001946
hpo_term: Ketosis
chpo_term: 酮症
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0011998
hpo_term: Postprandial hyperglycemia
chpo_term: 餐后高血糖
id: HP:0012734
hpo_term: Ketotic hypoglycemia
chpo_term: 酮症性低血糖症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
Disease (ORPHA:2088):
Glycogen storage disease due to GLUT2 deficiency
Glycogenosis due to GLUT2 deficiency
GSD due to GLUT2 deficiency
Fanconi-Bickel syndrome

Associated phenotypes (HPO):
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001947
hpo_term: Renal tubular acidosis
chpo_term: 肾小管性酸中毒
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0004919
hpo_term: Galactose intolerance
chpo_term: 半乳糖不耐受
id: HP:0006568
hpo_term: Increased hepatic glycogen content
chpo_term: 肝糖原含量增高
id: HP:0040270
hpo_term: Impaired glucose tolerance
chpo_term: 葡萄糖耐量下降
id: HP:0500030
hpo_term: Abnormal hepatic glycogen storage
chpo_term: 异常肝糖原储积
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0011998
hpo_term: Postprandial hyperglycemia
chpo_term: 餐后高血糖
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002909
hpo_term: Generalized aminoaciduria
chpo_term: 全谱氨基酸尿
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0020110
hpo_term: Bone fracture
chpo_term: 骨折
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0000295
hpo_term: Doll-like facies
chpo_term: 娃娃脸
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
Disease (ORPHA:542306):
GNB5-related intellectual disability-cardiac arrhythmia syndrome

Associated phenotypes (HPO):
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0005155
hpo_term: Ventricular escape rhythm
chpo_term: 室性逸搏心律
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011704
hpo_term: Sick sinus syndrome
chpo_term: 病窦综合征
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0012248
hpo_term: Prolonged PR interval
chpo_term: PR间期延长
Disease (ORPHA:99688):
Dermotrichic syndrome

Associated phenotypes (HPO):
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0030055
hpo_term: Hyperconvex toenail
chpo_term: 趾甲过凸
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
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:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
Disease (ORPHA:391646):
Microcephaly-digital anomalies-normal intelligence syndrome type 2
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
Feingold syndrome type 2
FS2
FGLDS2
MMT type 2
Brunner-Winter syndrome type 2
Brachydactyly-short stature-microcephaly syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005235
hpo_term: Jejunal atresia
chpo_term: 空肠闭锁
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
Disease (ORPHA:448237):
Zika virus disease
Zika virus infection

Associated phenotypes (HPO):
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001225
hpo_term: Wrist swelling
chpo_term: 腕肿胀
id: HP:0001785
hpo_term: Ankle swelling
chpo_term: 踝关节肿胀
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0012779
hpo_term: Transient hearing impairment
chpo_term: 一过性听力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001132
hpo_term: Lens subluxation
chpo_term: 晶状体半脱位
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001933
hpo_term: Subcutaneous hemorrhage
chpo_term: 皮下出血
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0006906
hpo_term: Congenital intracerebral calcification
chpo_term: 先天性脑内钙化
id: HP:0007131
hpo_term: Acute demyelinating polyneuropathy
chpo_term: 急性脱髓鞘性多发性神经病
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0007766
hpo_term: Optic disc hypoplasia
chpo_term: 视盘发育不良
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0012486
hpo_term: Myelitis
chpo_term: 脊髓炎
id: HP:0012795
hpo_term: Abnormal optic disc morphology
chpo_term: 视盘形态异常
id: HP:0030825
hpo_term: Absent foveal reflex
chpo_term: 黄斑中心凹反射缺失
Disease (ORPHA:530):
Urbach-Wiethe disease
Hyalinosis cutis et mucosae
Lipoid proteinosis

Associated phenotypes (HPO):
id: HP:0000168
hpo_term: Abnormality of the gingiva
chpo_term: 牙龈异常
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000199
hpo_term: Tongue nodules
chpo_term: 舌结节
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0011830
hpo_term: Abnormal oral mucosa morphology
chpo_term: 口腔黏膜形态异常
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0200043
hpo_term: Verrucae
chpo_term: 疣
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
Disease (ORPHA:284324):
SCAR7
Autosomal recessive spinocerebellar ataxia type 7
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Associated phenotypes (HPO):
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0000641
hpo_term: Dysmetric saccades
chpo_term: 不规则扫视
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001152
hpo_term: Saccadic smooth pursuit
chpo_term: 扫视平滑追视
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002168
hpo_term: Scanning speech
chpo_term: 断续言语
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
Disease (ORPHA:531):
Monosomy 17p13.3
Telomeric deletion 17p
Lissencephaly due to 17p13.3 deletion
Miller-Dieker syndrome

Associated phenotypes (HPO):
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000177
hpo_term: Abnormality of upper lip
chpo_term: 上唇异常
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
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:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形