Disease (OMIM:147060):
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
Hyper-IgE recurrent infection syndrome

Associated phenotypes (HPO):
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0410151
hpo_term: Eosinophilic infiltration of the esophagus
chpo_term: 食道嗜酸性粒细胞浸润
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0033842
hpo_term: Early satiety
chpo_term: 早饱
id: HP:0031984
hpo_term: Esophageal food impaction
chpo_term: 食道食物嵌顿
id: HP:0032043
hpo_term: Odynophagia
chpo_term: 吞咽疼痛
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0005425
hpo_term: Recurrent sinopulmonary infections
chpo_term: 反复鼻窦及肺感染
id: HP:0410147
hpo_term: Eosinophilic infiltration in the stomach mucosa
chpo_term: 胃粘膜嗜酸性粒细胞浸润
id: HP:0002035
hpo_term: Rectal prolapse
chpo_term: 直肠脱垂
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002592
hpo_term: Gastric ulcer
chpo_term: 胃溃疡
id: HP:0032445
hpo_term: Pulmonary cyst
chpo_term: 肺囊肿
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002588
hpo_term: Duodenal ulcer
chpo_term: 十二指肠溃疡
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0011919
hpo_term: Pleural empyema
chpo_term: 脓胸
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0031368
hpo_term: Intestinal perforation
chpo_term: 肠穿孔
id: HP:0031292
hpo_term: Cutaneous abscess
chpo_term: 皮肤脓肿
id: HP:0033351
hpo_term: Candida esophagitis
chpo_term: 念珠菌性食管炎
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100628
hpo_term: Esophageal diverticulum
chpo_term: 食管憩室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0006335
hpo_term: Persistence of primary teeth
chpo_term: 乳牙存留
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0031858
hpo_term: Esophageal furrows
chpo_term: 食管沟
id: HP:0002253
hpo_term: Colonic diverticula
chpo_term: 结肠憩室
id: HP:0004791
hpo_term: Esophageal ulceration
chpo_term: 食管溃疡
id: HP:0031141
hpo_term: Increased hepatic echogenicity
chpo_term: 肝回声增强
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0002726
hpo_term: Recurrent Staphylococcus aureus infections
chpo_term: 反复金黄色葡萄球菌感染
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0100838
hpo_term: Recurrent cutaneous abscess formation
chpo_term: 复发性皮肤脓肿
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002841
hpo_term: Recurrent fungal infections
chpo_term: 反复真菌感染