TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:600145):
Sacral defect with anterior meningocele
SACRAL DEFECT WITH ANTERIOR MENINGOCELE

Associated phenotypes (HPO):
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002144
hpo_term: Tethered cord
chpo_term: 脊髓栓系
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0005224
hpo_term: Rectal abscess
chpo_term: 直肠脓肿
id: HP:0025247
hpo_term: Dermoid cyst
chpo_term: 皮样囊肿
id: HP:0030708
hpo_term: Myeloschisis
chpo_term: 脊髓裂
id: HP:0010305
hpo_term: Absence of the sacrum
chpo_term: 骶骨缺如
id: HP:0012033
hpo_term: Sacral lipoma
chpo_term: 骶脂肪瘤
id: HP:0007293
hpo_term: Anterior sacral meningocele
chpo_term: 骶前脊膜膨出
id: HP:0100565
hpo_term: Hydromyelia
chpo_term: 脊髓积水
id: HP:0009790
hpo_term: Hemisacrum
chpo_term: 半骶骨（S2-S5）
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0020223
hpo_term: Dermal sinus tract
chpo_term: 皮窦管
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001776
hpo_term: Bilateral talipes equinovarus
chpo_term: 双侧马蹄内翻足
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
Disease (OMIM:617439):
Craniosynostosis 7
CRANIOSYNOSTOSIS 7

Associated phenotypes (HPO):
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:610356):
RETINAL CONE DYSTROPHY 3B
Retinal cone dystrophy 3B

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP: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:0000575
hpo_term: Scotoma
chpo_term: 盲点
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:613887):
CATARACT 36
Cataract, autosomal recessive congenital 4

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:236600):
HYDROCEPHALUS, CONGENITAL, 1
Hydrocephalus, nonsyndromic, autosomal recessive 1

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:612227):
Diabetes mellitus, ketosis-prone
DIABETES MELLITUS, KETOSIS-PRONE

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006279
hpo_term: Beta-cell dysfunction
chpo_term: β细胞功能障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615548):
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII
Neuropathy, hereditary sensory and autonomic, type VII

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:232300):
Glycogen storage disease II
GLYCOGEN STORAGE DISEASE II

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:6001008
id: HP:0033567
hpo_term: Right axis deviation
chpo_term: 电轴右偏
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0006597
hpo_term: Diaphragmatic paralysis
chpo_term: 膈肌麻痹
id: HP:0003725
hpo_term: Firm muscles
chpo_term: 肌肉坚硬
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:6000088
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0005165
hpo_term: Shortened PR interval
chpo_term: PR间期缩短
id: HP:0033235
hpo_term: Difficulty descending stairs
chpo_term: 下楼梯困难
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0011400
hpo_term: Abnormal CNS myelination
chpo_term: 中枢神经系统髓鞘异常
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0011703
hpo_term: Sinus tachycardia
chpo_term: 窦性心动过速
id: HP:0009051
hpo_term: Increased muscle glycogen content
chpo_term: 肌糖原含量增加
id: HP:0031185
hpo_term: Increased circulating NT-proBNP concentration
chpo_term: NT-proBNP水平增高
id: HP:0001716
hpo_term: Wolff-Parkinson-White syndrome
chpo_term: 预激综合征
id: HP:0032232
hpo_term: Increased circulating creatine kinase MB isoform
chpo_term: 血液肌酸激酶MB亚型增加
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
Disease (OMIM:151623):
LI-FRAUMENI SYNDROME
Li-Fraumeni syndrome

Associated phenotypes (HPO):
id: HP:0002894
hpo_term: Neoplasm of the pancreas
chpo_term: 胰腺肿瘤
id: HP:0002488
hpo_term: Acute leukemia
chpo_term: 急性白血病
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0003003
hpo_term: Colon cancer
chpo_term: 结肠癌
id: HP:0030078
hpo_term: Lung adenocarcinoma
chpo_term: 肺腺癌
id: HP:0012125
hpo_term: Prostate cancer
chpo_term: 前列腺癌
id: HP:0030448
hpo_term: Soft tissue sarcoma
chpo_term: 软组织肉瘤
id: HP:0100787
hpo_term: Prostate neoplasm
chpo_term: 前列腺肿瘤
id: HP:0100768
hpo_term: Choriocarcinoma
chpo_term: 绒癌
id: HP:0002669
hpo_term: Osteosarcoma
chpo_term: 骨肉瘤
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0006744
hpo_term: Adrenocortical carcinoma
chpo_term: 肾上腺皮质癌
Disease (OMIM:609161):
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1
Striatal degeneration, autosomal dominant

Associated phenotypes (HPO):
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0040140
hpo_term: Degeneration of the striatum
chpo_term: 纹状体退行性变
id: HP:0007039
hpo_term: Symmetric lesions of the basal ganglia
chpo_term: 基底节对称性病变
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:615560):
OTOFACIOCERVICAL SYNDROME 2
Otofaciocervical syndrome 2

Associated phenotypes (HPO):
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000265
hpo_term: Mastoiditis
chpo_term: 乳突炎
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0030668
hpo_term: Periorbital dermoid cyst
chpo_term: 眶周皮样囊肿
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0007678
hpo_term: Lacrimal duct stenosis
chpo_term: 泪道狭窄
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000522
hpo_term: Alacrima
chpo_term: 无泪
Disease (OMIM:608257):
MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT
Mandibulofacial dysostosis with ptosis, autosomal dominant

Associated phenotypes (HPO):
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0005321
hpo_term: Mandibulofacial dysostosis
chpo_term: 下颌面骨发育不全
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0009892
hpo_term: Anotia
chpo_term: 无耳畸形
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0007911
hpo_term: Congenital bilateral ptosis
chpo_term: 先天性双侧上睑下垂
Disease (OMIM:616069):
Inflammatory skin and bowel disease, neonatal, 2
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0100501
hpo_term: Recurrent bronchiolitis
chpo_term: 复发性毛细支气管炎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0005208
hpo_term: Secretory diarrhea
chpo_term: 分泌性腹泻
Disease (OMIM:611706):
Migraine with or without aura, susceptibility to, 12
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12

Associated phenotypes (HPO):
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0002183
hpo_term: Phonophobia
chpo_term: 声音恐惧
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607602):
ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
Ichthyosis, cyclic, with epidermolytic hyperkeratosis

Associated phenotypes (HPO):
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0007453
hpo_term: Flexural lichenification
chpo_term: 弯曲部位苔藓样变
id: HP:0007475
hpo_term: Congenital bullous ichthyosiform erythroderma
chpo_term: 先天性大疱性鱼鳞病样红皮病
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0040009
hpo_term: Hyperparakeratosis
chpo_term: 过度角化不全
Disease (OMIM:613677):
Hyperaldosteronism, familial, type III
HYPERALDOSTERONISM, FAMILIAL, TYPE III

Associated phenotypes (HPO):
id: HP:0000859
hpo_term: Hyperaldosteronism
chpo_term: 醛固酮增多症
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0003351
hpo_term: Decreased circulating renin level
chpo_term: 血肾素水平降低
id: HP:0008221
hpo_term: Adrenal hyperplasia
chpo_term: 肾上腺增生
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
Disease (OMIM:615206):
Card11 immunodeficiency
IMMUNODEFICIENCY 11

Associated phenotypes (HPO):
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004432
hpo_term: Agammaglobulinemia
chpo_term: 无丙种球蛋白血症
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0020102
hpo_term: Pneumocystis jirovecii pneumonia
chpo_term: 肺孢子菌肺炎
id: HP:0020113
hpo_term: Decreased proportion of CD4+CD25+ regulatory T cells
chpo_term: CD4+CD25+调节性T细胞比例降低
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0012312
hpo_term: Monocytopenia
chpo_term: 单核细胞减少症
id: HP:0031402
hpo_term: Reduced antigen-specific T cell proliferation
chpo_term: 抗原特异性T细胞增殖减弱
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:619428):
FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME
Focal segmental glomerulosclerosis and neurodevelopmental syndrome

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
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:0033720
hpo_term: EEG with occipital epileptiform discharges
chpo_term: 枕叶癫痫样放电的脑电图
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0031491
hpo_term: Continuous spike and waves during slow sleep
chpo_term: 慢波睡眠期持续棘慢波的癫痫
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0033719
hpo_term: EEG with parietal epileptiform discharges
chpo_term: 顶叶癫痫样放电的脑电图
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000096
hpo_term: Glomerular sclerosis
chpo_term: 肾小球硬化
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0008763
hpo_term: No social interaction
chpo_term: 无社会交往
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
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:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
Disease (OMIM:617405):
Short-Rib thoracic dysplasia 17 with or without polydactyly
SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0010454
hpo_term: Acetabular spurs
chpo_term: 髋臼骨刺
id: HP:0034374
hpo_term: Trident acetabulum
chpo_term: 三叉戟髋臼
id: HP:0000888
hpo_term: Horizontal ribs
chpo_term: 横位肋骨
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000895
hpo_term: Lateral clavicle hook
chpo_term: 锁骨外侧钩
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
Disease (OMIM:618736):
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
Structural brain anomalies with impaired intellectual development and craniosynostosis

Associated phenotypes (HPO):
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004443
hpo_term: Lambdoidal craniosynostosis
chpo_term: 人字缝早闭
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0011318
hpo_term: Bicoronal synostosis
chpo_term: 双侧冠状缝闭合
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
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:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
Disease (OMIM:607616):
Niemann-pick disease, type B
NIEMANN-PICK DISEASE, TYPE B

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0034300
hpo_term: Decreased acid sphingomyelinase activity
chpo_term: 酸性鞘磷脂酶活性降低
id: HP:0003609
hpo_term: Foam cells with lamellar inclusion bodies
chpo_term: 层状包涵体泡沫细胞
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0001103
hpo_term: Abnormal macular morphology
chpo_term: 黄斑形态异常
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001982
hpo_term: Sea-blue histiocytosis
chpo_term: 海蓝色组织细胞增多症
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0004333
hpo_term: Bone-marrow foam cells
chpo_term: 骨髓泡沫细胞
id: HP:0003141
hpo_term: Increased LDL cholesterol concentration
chpo_term: 高β-脂蛋白血症
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002207
hpo_term: Diffuse reticular or finely nodular infiltrations
chpo_term: 弥漫性网状或细结节状浸润
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (OMIM:613105):
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
Choroidal dystrophy, central areolar 2

Associated phenotypes (HPO):
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩