Disease (ORPHA:79404):
Epidermolysis bullosa letalis
Severe generalized JEB
Severe generalized junctional epidermolysis bullosa
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz-Pearson type
JEB-H

Associated phenotypes (HPO):
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
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:0020117
hpo_term: Hypoplastic dermoepidermal hemidesmosomes
chpo_term: 真皮表皮交界处半小体发育不良
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0001211
hpo_term: Abnormal fingertip morphology
chpo_term: 指尖形态异常
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0001818
hpo_term: Paronychia
chpo_term: 甲沟炎
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0031446
hpo_term: Erosion of oral mucosa
chpo_term: 口腔黏膜糜烂
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000014
hpo_term: Abnormality of the bladder
chpo_term: 膀胱异常
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000070
hpo_term: Ureterocele
chpo_term: 输尿管囊肿
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000081
hpo_term: Duplicated collecting system
chpo_term: 集合管系统重复
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000481
hpo_term: Abnormal cornea morphology
chpo_term: 角膜形态异常
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001602
hpo_term: Laryngeal stenosis
chpo_term: 喉狭窄
id: HP:0001615
hpo_term: Hoarse cry
chpo_term: 声音嘶哑的哭声
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001955
hpo_term: Unexplained fevers
chpo_term: 不明原因的发热
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0002087
hpo_term: Abnormality of the upper respiratory tract
chpo_term: 上呼吸道异常
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003111
hpo_term: Abnormal blood ion concentration
chpo_term: 离子稳态平衡异常
id: HP:0004057
hpo_term: Mitten deformity
chpo_term: 连指手套状并指
id: HP:0004386
hpo_term: Gastrointestinal inflammation
chpo_term: 胃肠道炎症
id: HP:0006000
hpo_term: Ureteral obstruction
chpo_term: 输尿管梗阻
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0008682
hpo_term: Renal tubular epithelial necrosis
chpo_term: 肾小管上皮细胞坏死
id: HP:0010476
hpo_term: Aplasia/Hypoplasia of the bladder
chpo_term: 膀胱发育不全/发育不良
id: HP:0012227
hpo_term: Urethral stricture
chpo_term: 尿道狭窄
id: HP:0100518
hpo_term: Dysuria
chpo_term: 排尿困难
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0000999
hpo_term: Pyoderma
chpo_term: 脓皮病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸