Bardet-Biedl Syndrome (BBS)

Bardet-Biedl Syndrome(来自ICD-11)
别称:
Bbs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bardet-Biedl Syndrome, also known as bbs, is related to bardet-biedl syndrome 1 and bardet-biedl syndrome 11. An important gene associated with Bardet-Biedl Syndrome is BBS1 (Bardet-Biedl Syndrome 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. The drugs Intermedine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye and kidney, and related phenotypes are intellectual disability and abnormal electroretinogram
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相关ID:
MESH:D020788

基础信息

遗传方式
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参考文献
MALACARDS
AR
Antenatal
1-9/1000000
197
1532
268

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