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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Inflammatory Bowel Disease 25, Autosomal Recessive (IBD25)
Alias:
Inflammatory Bowel Disease 25, Early Onset, Autosomal Recessive
Ibd25
Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive
Early-Onset Autosomal Recessive Inflammatory Bowel Disease
Autosomal Recessive Early-Onset Inflammatory Bowel Disease
Bowel Disease, Inflammatory, Type 25, Autosomal Recessive
Inflammatory Bowel Disease 25
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
炎症性肠病25,常染色体隐性,也称为炎症性肠病25,早发,常染色体隐性,与炎症性肠病25和炎症性肠病31,常染色体隐性有关。炎症性肠病25,常染色体隐性的一个重要基因是IL10RB(白细胞介素10受体亚基β),其相关通路/超通路包括神经炎症和谷氨酸能信号通路以及人冠状病毒-干扰素诱导的宿主-病原体相互作用。相关组织包括结肠和皮肤,相关表型包括直肠阴道瘘和复发性支气管炎。
Related ID:
MALACARDS:INF063
OMIM:612567
MESH:D015212
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
--
4
51
13
INF063
Medical Symptom
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