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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
Bardet-Biedl Syndrome 7 (BBS7)
Alias:
Bbs7
Bardet-Biedl Syndrome, Type 7
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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
巴德-毕德尔综合症7,也被称为bbs7,与埃利斯-范克雷夫综合症和窒息性胸腔病有关。与巴德-毕德尔综合症7相关的基因是BBS7(巴德-毕德尔综合症7),其相关通路/超级通路包括细胞器生物发生和维护以及纤毛景观。附属组织包括心脏和眼睛,相关表型为智力障碍和鼻梁下陷。
Related ID:
MALACARDS:BRD019
OMIM:615984
MESH:C565916
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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15
53
7
BRD019
Medical Symptom
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Description
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Orphanet Frequency
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No data available
Gene & Mutation
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Gene
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Mutations
No data available
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Name
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No data available
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Name
MGI
Related Gene
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Publications
No data available
References Literature
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IF
No Data Found!
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